PedAM

Pediatric Disease Annotations & Medicines


	lynch syndrome

Disease ID	44
Disease	lynch syndrome
Definition	An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.
Synonym	colon cancer, familial nonpolyposis colorectal cancer hereditary nonpolyposis familial non-polyposis colon cancer (hmsh2, hmlh1, hpms1, hpms2) hereditary colorectal endometrial cancer syndrome hereditary defective mismatch repair syndrome hereditary non-polyposis colon cancer (hmsh2, hmlh1, hpms1, hpms2) hereditary nonpolyposis colon cancer hereditary nonpolyposis colon cancer (disorder) hereditary nonpolyposis colon cancer (hmsh2, hmlh1, hpms1, hpms2) hereditary nonpolyposis colorectal cancer hnpcc - hereditary nonpolyposis colon cancer hnpcc - hereditary nonpolyposis colorectal cancer lynch cancer family syndrome i lynch syndrome (disorder) lynch syndrome i syndrome, lynch
Orphanet	ORPHANET:144 ORPHANET:443909
OMIM	OMIM:120435
DOID	DOID:3883
UMLS	C1333990
SNOMED-CT	SNOMEDCT_US_2016_09_01:315058005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:43) C0009402 \| colorectal cancer \| 44 C0007113 \| rectal cancer \| 44 C0476089 \| endometrial ca \| 30 C0476089 \| endometrial cancer \| 26 C1140680 \| ovarian ca \| 13 C1140680 \| ovarian cancer \| 11 C0007102 \| colon cancer \| 10 C1527249 \| colorectal cancers \| 9 C1302401 \| colorectal adenoma \| 5 C0006142 \| breast cancer \| 4 C0476089 \| endometrial carcinoma \| 4 C0476089 \| endometrial cancers \| 4 C0001430 \| adenoma \| 4 C1140680 \| ovarian cancers \| 4 C0007138 \| urothelial carcinoma \| 3 C0007113 \| rectal carcinoma \| 3 C0009402 \| colorectal carcinoma \| 3 C0376358 \| prostate cancer \| 2 C0007102 \| colonic cancer \| 2 C0024623 \| gastric cancer \| 2 C0007102 \| colon cancers \| 2 C0029925 \| ovarian carcinoma \| 2 C0005684 \| bladder cancer \| 2 C0001418 \| adenocarcinoma \| 2 C0036503 \| sebaceous neoplasm \| 2 C0027859 \| acoustic neuroma \| 1 C0678222 \| breast carcinoma \| 1 C0021831 \| bowel disease \| 1 C0854750 \| recurrent colorectal cancer \| 1 C0279672 \| cervical adenocarcinoma \| 1 C0302592 \| carcinoma of the cervix \| 1 C0153619 \| ureteral cancer \| 1 C0279672 \| adenocarcinoma of the cervix \| 1 C0027859 \| acoustic neuromas \| 1 C0031511 \| pheochromocytoma \| 1 C0740277 \| bile duct cancer \| 1 C0017636 \| glioblastoma \| 1 C0021390 \| inflammatory bowel disease \| 1 C0009402 \| colorectal carcinomas \| 1 C0007114 \| skin cancer \| 1 C0011570 \| depression \| 1 C0034885 \| rectal neoplasms \| 1 C0750952 \| biliary tract cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) PIK3CA \| 5290 \| ORPHANET MSH6 \| 2956 \| CLINVAR;ORPHANET;GHR;UniProtKB-KW MSH2 \| 4436 \| CLINVAR;ORPHANET;GHR;UniProtKB-KW TGFBR2 \| 7048 \| ORPHANET;UniProtKB-KW FAN1 \| 22909 \| ORPHANET KRAS \| 3845 \| ORPHANET RPS20 \| 6224 \| ORPHANET MLH1 \| 4292 \| CLINVAR;ORPHANET;GHR;UniProtKB-KW MLH3 \| 27030 \| ORPHANET;UniProtKB-KW EPCAM \| 4072 \| CLINVAR;ORPHANET;GHR;UniProtKB-KW PMS2 \| 5395 \| CLINVAR;ORPHANET;GHR;UniProtKB-KW BMPR1A \| 657 \| ORPHANET PMS1 \| 5378 \| ORPHANET;UniProtKB-KW LRRFIP2 \| 9209 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 4292 \| MLH1 \| infer 4436 \| MSH2 \| infer 6035 \| RNASE1 \| infer 7157 \| TP53 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:136) 771 \| CA12 \| DISEASES 5427 \| POLE2 \| DISEASES 657 \| BMPR1A \| DISEASES 595 \| CCND1 \| DISEASES 4292 \| MLH1 \| DISEASES 6787 \| NEK4 \| DISEASES 4436 \| MSH2 \| DISEASES 7035 \| TFPI \| DISEASES 2956 \| MSH6 \| DISEASES 9419 \| CRIPT \| DISEASES 27230 \| SERP1 \| DISEASES 92 \| ACVR2A \| DISEASES 23163 \| GGA3 \| DISEASES 2952 \| GSTT1 \| DISEASES 8930 \| MBD4 \| DISEASES 3845 \| KRAS \| DISEASES 60561 \| RINT1 \| DISEASES 4316 \| MMP7 \| DISEASES 54665 \| RSBN1 \| DISEASES 79728 \| PALB2 \| DISEASES 999 \| CDH1 \| DISEASES 6604 \| SMARCD3 \| DISEASES 8312 \| AXIN1 \| DISEASES 27330 \| RPS6KA6 \| DISEASES 4438 \| MSH4 \| DISEASES 9014 \| TAF1B \| DISEASES 10714 \| POLD3 \| DISEASES 4072 \| EPCAM \| DISEASES 5290 \| PIK3CA \| DISEASES 192666 \| KRT24 \| DISEASES 28990 \| ASTE1 \| DISEASES 4437 \| MSH3 \| DISEASES 64374 \| SIL1 \| DISEASES 57510 \| XPO5 \| DISEASES 1390 \| CREM \| DISEASES 320 \| APBA1 \| DISEASES 5395 \| PMS2 \| DISEASES 11070 \| TMEM115 \| DISEASES 6895 \| TARBP2 \| DISEASES 55716 \| LMBR1L \| DISEASES 7157 \| TP53 \| DISEASES 2064 \| ERBB2 \| DISEASES 1956 \| EGFR \| DISEASES 2620 \| GAS2 \| DISEASES 472 \| ATM \| DISEASES 54842 \| MFSD6 \| DISEASES 3973 \| LHCGR \| DISEASES 54861 \| SNRK \| DISEASES 10085 \| EDIL3 \| DISEASES 9147 \| NEMF \| DISEASES 26585 \| GREM1 \| DISEASES 4255 \| MGMT \| DISEASES 55699 \| IARS2 \| DISEASES 5581 \| PRKCE \| DISEASES 4968 \| OGG1 \| DISEASES 3265 \| HRAS \| DISEASES 57804 \| POLD4 \| DISEASES 2944 \| GSTM1 \| DISEASES 9156 \| EXO1 \| DISEASES 84314 \| TMEM107 \| DISEASES 254394 \| MCM9 \| DISEASES 63917 \| GALNT11 \| DISEASES 57217 \| TTC7A \| DISEASES 90411 \| MCFD2 \| DISEASES 8289 \| ARID1A \| DISEASES 5426 \| POLE \| DISEASES 6794 \| STK11 \| DISEASES 3231 \| HOXD1 \| DISEASES 339883 \| C3orf35 \| DISEASES 5889 \| RAD51C \| DISEASES 9209 \| LRRFIP2 \| DISEASES 4521 \| NUDT1 \| DISEASES 4089 \| SMAD4 \| DISEASES 2272 \| FHIT \| DISEASES 1499 \| CTNNB1 \| DISEASES 147495 \| APCDD1 \| DISEASES 27030 \| MLH3 \| DISEASES 11226 \| GALNT6 \| DISEASES 3981 \| LIG4 \| DISEASES 3482 \| IGF2R \| DISEASES 4763 \| NF1 \| DISEASES 10004 \| NAALADL1 \| DISEASES 7048 \| TGFBR2 \| DISEASES 11199 \| ANXA10 \| DISEASES 7516 \| XRCC2 \| DISEASES 731 \| C8A \| DISEASES 9706 \| ULK2 \| DISEASES 9182 \| RASSF9 \| DISEASES 1291 \| COL6A1 \| DISEASES 2271 \| FH \| DISEASES 5743 \| PTGS2 \| DISEASES 9462 \| RASAL2 \| DISEASES 9447 \| AIM2 \| DISEASES 4082 \| MARCKS \| DISEASES 11231 \| SEC63 \| DISEASES 5728 \| PTEN \| DISEASES 4595 \| MUTYH \| DISEASES 4520 \| MTF1 \| DISEASES 54107 \| POLE3 \| DISEASES 2159 \| F10 \| DISEASES 4439 \| MSH5 \| DISEASES 5794 \| PTPRH \| DISEASES 1874 \| E2F4 \| DISEASES 7905 \| REEP5 \| DISEASES 5983 \| RFC3 \| DISEASES 675 \| BRCA2 \| DISEASES 60312 \| AFAP1 \| DISEASES 11200 \| CHEK2 \| DISEASES 26046 \| LTN1 \| DISEASES 838 \| CASP5 \| DISEASES 27297 \| CRCP \| DISEASES 2919 \| CXCL1 \| DISEASES 9665 \| KIAA0430 \| DISEASES 84189 \| SLITRK6 \| DISEASES 80204 \| FBXO11 \| DISEASES 54894 \| RNF43 \| DISEASES 5425 \| POLD2 \| DISEASES 1111 \| CHEK1 \| DISEASES 87178 \| PNPT1 \| DISEASES 1029 \| CDKN2A \| DISEASES 26054 \| SENP6 \| DISEASES 9852 \| EPM2AIP1 \| DISEASES 5424 \| POLD1 \| DISEASES 5378 \| PMS1 \| DISEASES 4583 \| MUC2 \| DISEASES 672 \| BRCA1 \| DISEASES 51227 \| PIGP \| DISEASES 56655 \| POLE4 \| DISEASES 8635 \| RNASET2 \| DISEASES 3066 \| HDAC2 \| DISEASES 92105 \| INTS4 \| DISEASES 9 \| NAT1 \| DISEASES 160728 \| SLC5A8 \| DISEASES 5756 \| TWF1 \| DISEASES 5892 \| RAD51D \| DISEASES 51352 \| WT1-AS \| DISEASES
Locus	Symbol \| Locus(Total Locus:11) PMS1 \| 2q32.2 KRAS \| 12p12.1 PIK3CA \| 3q26.32 EPCAM \| 2p21 MSH2 \| 2p21-p16.3 FAN1 \| 15q13.3 MSH6 \| 2p16.3 PMS2 \| 7p22.1 MLH1 \| 3p22.2 TGFBR2 \| 3p24.1 MLH3 \| 14q24.3

Disease ID	44
Disease	lynch syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:52) HP:0002239 \| Gastrointestinal hemorrhage HP:0010526 \| Dysgraphia HP:0000739 \| Anxiety HP:0000738 \| Hallucinations HP:0001824 \| Weight loss HP:0001371 \| Flexion contracture HP:0003006 \| Neuroblastoma HP:0002019 \| Constipation HP:0000708 \| Behavioral abnormality HP:0100743 \| Neoplasm of the rectum HP:0010524 \| Agnosia HP:0003003 \| Colon cancer HP:0006725 \| Pancreatic adenocarcinoma HP:0100031 \| Neoplasm of the thyroid gland HP:0002354 \| Memory impairment HP:0100843 \| Glioblastoma HP:0100615 \| Ovarian neoplasm HP:0001402 \| Hepatocellular carcinoma HP:0100660 \| Dyskinesia HP:0004374 \| Hemiplegia/hemiparesis HP:0100576 \| Amaurosis fugax HP:0001250 \| Seizures HP:0001276 \| Hypertonia HP:0100613 \| Death in early adulthood HP:0100835 \| Benign neoplasm of the central nervous system HP:0001252 \| Muscular hypotonia HP:0001260 \| Dysarthria HP:0002376 \| Developmental regression HP:0007256 \| Abnormal pyramidal signs HP:0000737 \| Irritability HP:0000505 \| Visual impairment HP:0001123 \| Visual field defect HP:0000716 \| Depression HP:0012113 \| Abnormality of creatine metabolism HP:0012378 \| Fatigue HP:0010786 \| Urinary tract neoplasm HP:0002167 \| Neurological speech impairment HP:0002893 \| Pituitary adenoma HP:0002024 \| Malabsorption HP:0002894 \| Neoplasm of the pancreas HP:0002017 \| Nausea and vomiting HP:0002671 \| Basal cell carcinoma HP:0007018 \| Attention deficit hyperactivity disorder HP:0002516 \| Increased intracranial pressure HP:0200008 \| Intestinal polyposis HP:0001522 \| Death in infancy HP:0010622 \| Neoplasm of the skeletal system HP:0003401 \| Paresthesia HP:0100571 \| Cardiac diverticulum HP:0002027 \| Abdominal pain HP:0002076 \| Migraine HP:0001288 \| Gait disturbance
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0003003 \| Colon cancer \| 10 HP:0030731 \| Carcinoma \| 9 HP:0002664 \| Neoplasia \| 8 HP:0003002 \| Breast carcinoma \| 4 HP:0012114 \| Endometrial carcinoma \| 4 HP:0009725 \| Bladder neoplasm \| 2 HP:0012125 \| Prostate cancer \| 2 HP:0100743 \| Rectal tumor \| 2 HP:0012126 \| Gastric cancer \| 2 HP:0100843 \| Glioblastoma \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0002666 \| Pheochromocytoma \| 1 HP:0000716 \| Depression \| 1 HP:0030153 \| Cholangiocarcinoma \| 1 HP:0009588 \| Vestibular Schwannoma \| 1

Disease ID	44
Disease	lynch syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C2697424 \| gastric cancer C2697384 \| colon cancer C1527249 \| colorectal cancer C1140680 \| ovarian cancer C0476089 \| endometrial carcinoma C0346627 \| bowel cancer C0007102 \| colonic cancers C0007102 \| colonic cancer C0001430 \| adenoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:8) C0009402 \| colorectal cancer \| 44 C1140680 \| ovarian cancer \| 11 C0007102 \| colon cancer \| 10 C0476089 \| endometrial carcinoma \| 4 C0001430 \| adenoma \| 4 C0024623 \| gastric cancer \| 2 C0007102 \| colonic cancer \| 1 C0007102 \| colonic cancers \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1180)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042522	17224235	6041	RNASEL	umls:C1333990	BeFree	The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.	0.000271442	2007	TP53	17	7676154	G	T,C
rs1042522	17224235	7157	TP53	umls:C1333990	BeFree	We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients.	0.005352893	2007	TP53	17	7676154	G	T,C
rs1042522	16353134	7248	TSC1	umls:C1333990	BeFree	Recently a polymorphism at codon 72 (R72P) in the tumour suppressor gene TP53 has been implicated in the age of disease onset in HNPCC.	0.001085767	2006	TP53	17	7676154	G	T,C
rs1042522	16353134	7157	TP53	umls:C1333990	BeFree	Age of diagnosis of CRC in HNPCC patients is therefore more complex than that predicted by the R72P TP53 polymorphism alone, suggesting an inter-relationship with other genetic and/or environmental factors.	0.005352893	2006	TP53	17	7676154	G	T,C
rs1042821	24622885	2956	MSH6	umls:C1333990	BeFree	Although the MSH6 G39E polymorphism is considered to be a biomarker of hereditary nonpolyposis colorectal cancer (HNPCC), many studies have also found that it may be associated with increased risks of lung, breast, and pancreatic cancers, with inconsistent estimated risks.	0.277111592	2014	MSH6	2	47783349	G	C,A
rs1048943	18768509	1543	CYP1A1	umls:C1333990	BeFree	Our results suggest that the I462V and Msp1 polymorphisms in CYP1A1 may be an additional susceptibility factor for disease expression in Lynch syndrome because they modify the age of colorectal cancer onset by up to 4 years.	0.000814326	2008	CYP1A1	15	74720644	T	G,C,A
rs111052004	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993549	T	A,C,G
rs113488022	24196786	3845	KRAS	umls:C1333990	BeFree	HER2 overexpression (3+) was observed in 2 out of 62 patients, overexpression of p53 in 26 out of 62, abnormal expression of β-catenin in 12 out of 61, KRAS mutation in 21 out of 49, BRAF V600E mutation in 1 out of 40 patients, MMR deficiency (dMMR) in 14 out of 61 and was consistent with Lynch syndrome in 9 out of 14 patients.	0.122442977	2013	BRAF	7	140753336	A	T,G,C
rs113488022	15342696	4436	MSH2	umls:C1333990	BeFree	The BRAF-V600E hotspot mutation was found in 40% (82/206) of the sporadic MSI-H tumours analysed but in none of the 111 tested HNPCC tumours or in the 45 cases showing abnormal MSH2 immunostaining.	0.33183516	2004	BRAF	7	140753336	A	T,G,C
rs113488022	24196786	2064	ERBB2	umls:C1333990	BeFree	HER2 overexpression (3+) was observed in 2 out of 62 patients, overexpression of p53 in 26 out of 62, abnormal expression of β-catenin in 12 out of 61, KRAS mutation in 21 out of 49, BRAF V600E mutation in 1 out of 40 patients, MMR deficiency (dMMR) in 14 out of 61 and was consistent with Lynch syndrome in 9 out of 14 patients.	0.000271442	2013	BRAF	7	140753336	A	T,G,C
rs113488022	17942460	673	BRAF	umls:C1333990	BeFree	The BRAF V600E mutation is associated with sporadic MSI-H colorectal cancers (CRCs) harboring hMLH1 methylation but not Lynch syndrome-related CRCs.	0.010043349	2008	BRAF	7	140753336	A	T,G,C
rs113488022	17566669	673	BRAF	umls:C1333990	BeFree	Frequency and application of the hot spot BRAF gene mutation (p.V600E) in the diagnostic strategy for Hereditary Nonpolyposis Colorectal Cancer.	0.010043349	2007	BRAF	7	140753336	A	T,G,C
rs113488022	24034859	673	BRAF	umls:C1333990	BeFree	MSI-H colorectal carcinomas were divided into sporadic (112/1292, 8.7%) and LS/probable LS-associated (38/1292, 2.9%) groups based on BRAF V600E mutation, MLH1 promoter hypermethylation, cancer history, and germline mismatch repair gene mutation.	0.010043349	2013	BRAF	7	140753336	A	T,G,C
rs113488022	17065421	5894	RAF1	umls:C1333990	BeFree	Mutation V600E of BRAF, a kinase-encoding gene from the RAS/RAF/MAPK pathway, in colorectal carcinoma (CRC) suggests a sporadic origin of the disease, providing an exclusion criterion for hereditary nonpolyposis colorectal cancer.	0.000271442	2006	BRAF	7	140753336	A	T,G,C
rs113488022	17065421	22882	ZHX2	umls:C1333990	BeFree	Mutation V600E of BRAF, a kinase-encoding gene from the RAS/RAF/MAPK pathway, in colorectal carcinoma (CRC) suggests a sporadic origin of the disease, providing an exclusion criterion for hereditary nonpolyposis colorectal cancer.	0.000271442	2006	BRAF	7	140753336	A	T,G,C
rs113488022	23897252	673	BRAF	umls:C1333990	BeFree	BRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome.	0.010043349	2013	BRAF	7	140753336	A	T,G,C
rs113488022	23553055	673	BRAF	umls:C1333990	BeFree	BRAF V600E-specific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer.	0.010043349	2013	BRAF	7	140753336	A	T,G,C
rs113488022	19213871	673	BRAF	umls:C1333990	BeFree	BRAF V600E is the predominantly occurring mutation of the cytoplasmic kinase BRAF, and, in colorectal cancer, its determination provides a diagnostic exclusion criterion for hereditary nonpolyposis colorectal cancer.	0.010043349	2009	BRAF	7	140753336	A	T,G,C
rs113488022	25602793	5395	PMS2	umls:C1333990	BeFree	We defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome.	0.262258234	2015	BRAF	7	140753336	A	T,G,C
rs113488022	25602793	4292	MLH1	umls:C1333990	BeFree	We defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome.	0.329468128	2015	BRAF	7	140753336	A	T,G,C
rs113488022	25602793	673	BRAF	umls:C1333990	BeFree	We defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome.	0.010043349	2015	BRAF	7	140753336	A	T,G,C
rs113488022	15342696	673	BRAF	umls:C1333990	BeFree	The BRAF-V600E hotspot mutation was found in 40% (82/206) of the sporadic MSI-H tumours analysed but in none of the 111 tested HNPCC tumours or in the 45 cases showing abnormal MSH2 immunostaining.	0.010043349	2004	BRAF	7	140753336	A	T,G,C
rs113488022	18556776	673	BRAF	umls:C1333990	BeFree	In addition, the combination of microsatellite instability testing, MLH1 promoter methylation analysis, and BRAF (V600E) mutation analysis can distinguish a sporadic colorectal cancer from one associated with HNPCC, helping to avoid costly molecular genetic testing for germline mutations in mismatch repair genes.	0.010043349	2008	BRAF	7	140753336	A	T,G,C
rs113488022	24034859	4292	MLH1	umls:C1333990	BeFree	MSI-H colorectal carcinomas were divided into sporadic (112/1292, 8.7%) and LS/probable LS-associated (38/1292, 2.9%) groups based on BRAF V600E mutation, MLH1 promoter hypermethylation, cancer history, and germline mismatch repair gene mutation.	0.329468128	2013	BRAF	7	140753336	A	T,G,C
rs113488022	17942460	4292	MLH1	umls:C1333990	BeFree	The BRAF V600E mutation is associated with sporadic MSI-H colorectal cancers (CRCs) harboring hMLH1 methylation but not Lynch syndrome-related CRCs.	0.329468128	2008	BRAF	7	140753336	A	T,G,C
rs113488022	17119056	673	BRAF	umls:C1333990	BeFree	To evaluate the role of oncogenic BRAF mutations in non-hereditary nonpolyposis colorectal cancer/non-familial adenomatous polyposis familial colorectal cancer, we did a mutation screening of the most common BRAF mutation, the V600E mutation, in 194 colorectal tumors from patients with a positive family history of the disease.	0.010043349	2006	BRAF	7	140753336	A	T,G,C
rs113488022	24196786	7157	TP53	umls:C1333990	BeFree	HER2 overexpression (3+) was observed in 2 out of 62 patients, overexpression of p53 in 26 out of 62, abnormal expression of β-catenin in 12 out of 61, KRAS mutation in 21 out of 49, BRAF V600E mutation in 1 out of 40 patients, MMR deficiency (dMMR) in 14 out of 61 and was consistent with Lynch syndrome in 9 out of 14 patients.	0.005352893	2013	BRAF	7	140753336	A	T,G,C
rs113488022	17545526	673	BRAF	umls:C1333990	BeFree	The detection of a BRAF V600E mutation further supports the exclusion of HNPCC.	0.010043349	2007	BRAF	7	140753336	A	T,G,C
rs113488022	24196786	673	BRAF	umls:C1333990	BeFree	HER2 overexpression (3+) was observed in 2 out of 62 patients, overexpression of p53 in 26 out of 62, abnormal expression of β-catenin in 12 out of 61, KRAS mutation in 21 out of 49, BRAF V600E mutation in 1 out of 40 patients, MMR deficiency (dMMR) in 14 out of 61 and was consistent with Lynch syndrome in 9 out of 14 patients.	0.010043349	2013	BRAF	7	140753336	A	T,G,C
rs113488022	17312306	673	BRAF	umls:C1333990	BeFree	Tumors were also screened for BRAF V600E mutations; patients with the mutation were considered as non-HNPCC.	0.010043349	2007	BRAF	7	140753336	A	T,G,C
rs113488022	17065421	673	BRAF	umls:C1333990	BeFree	Mutation V600E of BRAF, a kinase-encoding gene from the RAS/RAF/MAPK pathway, in colorectal carcinoma (CRC) suggests a sporadic origin of the disease, providing an exclusion criterion for hereditary nonpolyposis colorectal cancer.	0.010043349	2006	BRAF	7	140753336	A	T,G,C
rs11540654	16353134	7248	TSC1	umls:C1333990	BeFree	Recently a polymorphism at codon 72 (R72P) in the tumour suppressor gene TP53 has been implicated in the age of disease onset in HNPCC.	0.001085767	2006	TP53	17	7676040	C	T,G,A
rs11540654	16353134	7157	TP53	umls:C1333990	BeFree	Age of diagnosis of CRC in HNPCC patients is therefore more complex than that predicted by the R72P TP53 polymorphism alone, suggesting an inter-relationship with other genetic and/or environmental factors.	0.005352893	2006	TP53	17	7676040	C	T,G,A
rs11540654	17224235	7157	TP53	umls:C1333990	BeFree	We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients.	0.005352893	2007	TP53	17	7676040	C	T,G,A
rs11540654	17224235	6041	RNASEL	umls:C1333990	BeFree	The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.	0.000271442	2007	TP53	17	7676040	C	T,G,A
rs11541859	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37001012	G	C,T
rs121434629	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	6005918	C	T,A
rs121912965	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	NA	NA	NA	NA	NA
rs12476364	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416295	G	A,C
rs137937003	19133695	4292	MLH1	umls:C1333990	BeFree	We describe a somatic mosaicism in a Lynch syndrome patient with a MLH1 gene mutation (c.1050delA).	0.329468128	2009	MLH1	3	37025648	A	G
rs143277125	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5992012	G	A,T
rs146816935	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798875	C	T
rs148317871	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050595	G	A
rs1799977	23060557	4292	MLH1	umls:C1333990	BeFree	Evaluation of MLH1 I219V polymorphism in unrelated South American individuals suspected of having Lynch syndrome.	0.329468128	2012	MLH1	3	37012077	A	C,G
rs1799977	16982745	4292	MLH1	umls:C1333990	BeFree	The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R).	0.329468128	2006	MLH1	3	37012077	A	C,G
rs1799977	23060557	4436	MSH2	umls:C1333990	BeFree	To evaluate the mutL homolog 1 (MLH1) I219V polymorphism in 124 unrelated South American individuals suspected of having Lynch syndrome, based on frequency, association with pathogenic MLH1 and mutS homolog 2 (MSH2) mutation and clinical features.	0.33183516	2012	MLH1	3	37012077	A	C,G
rs1800937	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798625	C	A,G,T
rs1801155	15929773	324	APC	umls:C1333990	BeFree	In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined.	0.007600372	2005	APC	5	112839514	T	A
rs1801155	15929773	4436	MSH2	umls:C1333990	BeFree	In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined.	0.33183516	2005	APC	5	112839514	T	A
rs193922343	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806256	AGAA	-
rs193922370	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008813	G	A,C,T
rs193922372	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429673	CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT	-
rs193922375	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414336	-	G
rs193922376	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414421	A	T
rs200640585	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5992018	G	A
rs201451115	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5986826	T	A
rs2020912	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800616	T	C,G
rs2075786	22948024	4360	MRC1	umls:C1333990	BeFree	In conclusion, MMR gene mutation carriers with hTERT rs2075786 are at high risk to develop a LS-related tumor at an early age.	0.08	2013	TERT	5	1266195	A	G
rs267607689	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410373	G	A,T
rs267607690	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478298	-	A,AAT
rs267607691	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475046	-	CT
rs267607693	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429762	-	A
rs267607694	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47470970	-	A
rs267607696	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445611	-	GG
rs267607699	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040291	-	AAGT
rs267607702	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993566	GTTATTCGGCGGCTGGA	-
rs267607706	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993661	C	G
rs267607709	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993664	G	A
rs267607710	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993668	G	A,C
rs267607712	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996617	A	G,T
rs267607713	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996623	G	C
rs267607713	25060679	4292	MLH1	umls:C1333990	BeFree	Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.	0.329468128	2014	MLH1	3	36996623	G	C
rs267607715	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996697	C	-
rs267607716	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000953	A	C,G
rs267607717	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000954	G	A
rs267607718	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996710	G	A,T
rs267607719	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996710	GT	-
rs267607720	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000952	C	G
rs267607722	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996711	T	C
rs267607723	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000957	AGAA	-
rs267607728	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37001008	C	-
rs267607729	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000991	-	A
rs267607732	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004399	A	C
rs267607734	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37001054	G	A
rs267607735	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37001058	G	A
rs267607736	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004400	G	C
rs267607738	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37001055	-	T
rs267607739	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004440	-	A
rs267607742	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004476	T	A,C
rs267607743	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37006989	A	G
rs267607745	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004475	G	A
rs267607746	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37006992	GCAAGTTACTCAGATGGAAAA	T
rs267607750	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37007064	G	T
rs267607751	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37007065	T	C
rs267607753	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008812	A	G
rs267607754	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008848	G	-
rs267607755	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008857	T	A
rs267607756	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008862	AA	-
rs267607758	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008828	TT	-
rs267607759	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37011818	A	C,G
rs267607760	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008908	A	G
rs267607765	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008906	G	A
rs267607767	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012009	A	G
rs267607768	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37011867	G	A,C
rs267607772	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37011863	G	T
rs267607773	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37011863	G	-
rs267607774	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012095	AGTC	-
rs267607777	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017603	A	G
rs267607778	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012100	G	A,T
rs267607779	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012100	G	-
rs267607780	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012102	A	G,C
rs267607783	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014429	TA	-
rs267607784	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014431	G	T,C
rs267607787	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014481	AATG	-
rs267607788	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017501	T	G
rs267607789	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014545	G	T,C,A
rs267607790	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014546	T	A,C
rs267607791	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014546	-	T
rs267607794	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017504	A	G
rs267607795	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017505	G	A,C,T
rs267607798	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014545	G	-
rs267607799	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017506	ATCG	-
rs267607801	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017523	ACTT	-
rs267607805	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020308	A	G
rs267607806	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017601	T	C
rs267607809	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020313	A	-
rs267607815	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025635	A	T,G
rs267607816	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020464	G	C
rs267607819	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025636	G	C,A
rs267607821	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025960	-	G
rs267607822	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025644	-	T
rs267607825	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37026008	G	C,A
rs267607831	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028934	T	G
rs267607832	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028933	G	T
rs267607836	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040184	A	C,G,T
rs267607837	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040185	G	A,C,T
rs267607842	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040241	G	A
rs267607845	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042267	G	A,T
rs267607849	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042290	CTCA	-
rs267607850	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042336	G	A
rs267607851	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042334	A	T
rs267607852	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047517	A	G,T
rs267607853	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042332	G	T,C,A
rs267607854	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047518	G	A
rs267607856	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042333	T	G
rs267607864	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047610	C	A,T
rs267607867	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047684	G	A,T
rs267607868	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047684	G	-
rs267607869	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047685	T	C
rs267607871	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048515	A	G
rs267607873	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048606	TGAGG	C
rs267607877	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048608	A	-
rs267607879	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048610	G	A,C,T
rs267607881	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048888	AATTTCTTTGGACCA	-
rs267607883	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048902	A	G
rs267607884	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048903	G	T,A
rs267607888	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37049018	G	T,C,A
rs267607889	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050484	A	G,T
rs267607892	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050651	-	T,TGTT
rs267607894	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050628	T	A,C
rs267607895	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050647	G	C
rs267607896	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050606	C	-
rs267607897	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050605	GCAGCTTGCTA	-
rs267607898	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050561	CACA	-
rs267607903	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050580	-	AACA
rs267607906	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050576	A	T
rs267607907	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050634	AA	-
rs267607911	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403192	A	C,G,T
rs267607914	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408400	G	A
rs267607915	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403211	A	-
rs267607917	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408399	A	G
rs267607920	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408452	TT	-
rs267607921	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408444	TG	-
rs267607924	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408556	G	T
rs267607925	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410093	G	A,T
rs267607928	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410278	T	-
rs267607929	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412411	TAGATAATTCAA	-
rs267607930	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412411	T	C,G
rs267607931	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412527	GAAT	-
rs267607933	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414267	A	C
rs267607934	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412561	G	A
rs267607939	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416398	C	G
rs267607940	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416430	G	A,T
rs267607943	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429740	A	C,G,T
rs267607944	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429741	G	C,T
rs267607948	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445547	G	A,C
rs267607949	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445546	A	C,G
rs267607950	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429942	G	A,C,T
rs267607953	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429943	T	A,C
rs267607954	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445625	G	A,T
rs267607955	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445616	AAGT	-
rs267607956	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463030	G	T
rs267607957	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445658	G	A,C,T
rs267607961	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463089	GAGAA	-
rs267607962	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466656	A	G
rs267607969	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466809	G	A,T
rs267607970	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47470964	G	A
rs267607971	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47470963	A	G
rs267607974	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471020	G	-
rs267607976	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471064	T	A,C
rs267607977	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475036	-	A
rs267607979	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478271	G	T
rs267607983	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475220	C	A
rs267607984	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475118	C	-
rs267607985	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475073	A	G
rs267607986	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475271	G	A,C,T
rs267607987	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475272	T	C
rs267607988	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476366	G	C
rs267607990	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476362	T	A
rs267607991	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476365	A	G
rs267607994	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476448	C	T
rs267607995	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476408	G	A,T
rs267607996	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476382	G	A,C
rs267608000	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476382	GT	-
rs267608001	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478270	A	C,G,T
rs267608002	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476572	G	A,C
rs267608009	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478322	C	-
rs267608010	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478520	G	A
rs267608017	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480876	G	C,T
rs267608019	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480872	G	A,T
rs267608020	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47482778	G	T
rs267608024	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47482884	G	T
rs267608035	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47795893	G	A
rs267608036	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47791125	T	A
rs267608037	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47795958	AG	-
rs267608042	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47801102	TT	-
rs267608046	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799460	G	T
rs267608048	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798738	C	G
rs267608049	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	NA	NA	NA	NA	NA
rs267608050	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799767	T	-
rs267608055	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799282	T	A
rs267608056	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799068	C	-
rs267608057	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800028	CT	-
rs267608058	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800133	TCAG	-
rs267608059	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47801050	G	T
rs267608062	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798828	-	GGG,T
rs267608063	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800751	-	A
rs267608064	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799615	AAAA	-
rs267608065	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800331	GT	-
rs267608066	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798713	C	T
rs267608068	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800044	T	A
rs267608072	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798745	TG	-
rs267608076	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799620	AG	-
rs267608077	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799118	AGAGA	-
rs267608078	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803508	C	-
rs267608082	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799884	TG	-
rs267608084	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803602	G	T
rs267608085	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803442	CTAT	-
rs267608086	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803614	G	T
rs267608087	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803508	-	C,CC
rs267608088	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803571	-	T
rs267608090	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803468	T	-
rs267608091	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803510	-	T
rs267608092	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803558	TT	-
rs267608093	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803559	T	-
rs267608094	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806641	C	T
rs267608095	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803520	-	T
rs267608096	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803686	G	A
rs267608098	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47804908	A	G
rs267608099	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47804987	AGTG	-
rs267608101	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47804993	-	GTTT
rs267608106	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47805707	GGTA	-
rs267608111	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806202	A	C
rs267608112	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806198	TAACAG	-
rs267608114	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806356	AT	-
rs267608118	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806454	-	A
rs267608120	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806609	CAAG	-
rs267608121	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806637	-	GTCA
rs267608122	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806651	G	A
rs267608124	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806634	-	ATCA
rs267608126	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806591	-	TTCA
rs267608127	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806585	-	AAGT
rs267608128	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806500	-	ATTA
rs267608130	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806537	AAAGCTA	-
rs267608131	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806653	T	C
rs267608140	24040339	2956	MSH6	umls:C1333990	BeFree	We recreated three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095H and MSH6-L1354Q, and found all three to behave like wild type MSH6.	0.277111592	2013	MSH6;FBXO11	2	47806838	T	A,C
rs267608147	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5999107	C	A
rs267608148	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5999219	-	A
rs267608149	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5997326	-	A
rs267608150	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5997388	AGGGGG	NNNNNNNNNNN,CTTCACACACA
rs267608153	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5995534	C	T,A
rs267608154	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5995573	CTGT	-
rs267608156	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5989867	-	A
rs267608158	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5989798	A	T
rs267608160	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5977669	GAAG	-
rs267608161	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5982885	C	T
rs267608169	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5987027	T	A
rs267608170	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5982992	C	T
rs267608172	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5982823	C	T,A
rs267608173	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5978625	TTCT	-
rs281864936	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028787	GAGA	-
rs281864937	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028789	GA	-
rs281864938	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048566	C	-
rs281864940	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050537	-	ATGTGTTCCACA,CA
rs281864941	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471009	-	GA,T
rs281864942	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403378	-	G,GG
rs281864943	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403212	-	G,GCGGTGCAGCCGAAGGAG
rs281864944	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412472	AA	-
rs281864945	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412473	A	-
rs28929483	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475130	C	T
rs28929484	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475180	C	T
rs28930073	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37007004	G	C
rs3211299	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47791097	G	T
rs34986638	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478483	G	T
rs35001569	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047639	A	G,T
rs35502531	22426235	4292	MLH1	umls:C1333990	BeFree	The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors.	0.329468128	2012	NA	NA	NA	NA	NA
rs367543283	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047545	-	C
rs369521379	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37007063	G	A
rs386448489	15193445	27030	MLH3	umls:C1333990	BeFree	Recently we identified a new variant, S845G, in the MLH3 gene in 7 out of 327 patients suspected of hereditary nonpolyposis colorectal cancer but not fulfilling the Amsterdam criteria and in 1 out of 188 control subjects.	0.122171535	2004	NA	NA	NA	NA	NA
rs386596027	17224235	6041	RNASEL	umls:C1333990	BeFree	The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.	0.000271442	2007	NA	NA	NA	NA	NA
rs386596027	17224235	7157	TP53	umls:C1333990	BeFree	We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients.	0.005352893	2007	NA	NA	NA	NA	NA
rs397507444	17855693	4524	MTHFR	umls:C1333990	BeFree	Influence of methylenetetrahydrofolate reductase gene polymorphisms C677T and A1298C on age-associated risk for colorectal cancer in a caucasian lynch syndrome population.	0.000271442	2007	MTHFR	1	11794407	T	G
rs398123232	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47804987	AG	-
rs41295282	11793442	5395	PMS2	umls:C1333990	BeFree	In contrast, the third amino-terminal mutation S93G did not affect the heterodimerization, and the MLH1(S93G)/PMS2 variant was functional in the in vitro MMR assay, given thus the nature of the HNPCC family in question.	0.262258234	2002	MLH1	3	37001024	A	G
rs486907	17224235	6041	RNASEL	umls:C1333990	BeFree	The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.	0.000271442	2007	RNASEL	1	182585422	C	T
rs486907	17224235	7157	TP53	umls:C1333990	BeFree	We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg462Gln in RNASEL are associated with the age of disease onset of colorectal cancer in Lynch syndrome patients.	0.005352893	2007	RNASEL	1	182585422	C	T
rs551060742	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47482929	C	T
rs573125799	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5997364	G	A,T
rs587776529	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408479	-	AAGATCTTCTTCTGGTTCGTCA
rs587776530	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463101	ATGA	-
rs587776705	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803633	GTG	-
rs587776715	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5987544	C	-
rs587778617	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5987504	G	A
rs587778881	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020451	-	G
rs587778882	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993651	-	AA
rs587778883	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025648	A	-
rs587778884	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025669	GGAGATGG	-
rs587778885	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025670	G	-
rs587778887	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025730	GTC	A
rs587778888	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993660	A	G
rs587778889	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025743	-	A
rs587778893	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025761	-	NNNN
rs587778894	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025769	C	T
rs587778896	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996621	T	-
rs587778898	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025808	-	C
rs587778899	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025821	-	GTCAGCC
rs587778900	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025816	T	-
rs587778903	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025923	CCAAAAATCAGAGCTTGGAGGG	NNNNN
rs587778905	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025945	GGATACAACAAAGGGGACTTC	TAAA
rs587778906	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025946	-	G
rs587778907	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025960	G	-
rs587778908	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025975	A	-
rs587778909	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025978	GA	-
rs587778911	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37026009	T	G
rs587778912	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028789	GACATCGGGAAGA	-
rs587778913	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996644	C	T
rs587778914	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996645	A	C
rs587778915	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028823	A	-
rs587778918	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028836	A	T
rs587778919	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028838	GGAAA	-
rs587778921	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028894	T	-
rs587778922	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996655	-	T
rs587778923	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996657	AAGA	-
rs587778924	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028926	-	T
rs587778925	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028926	C	-
rs587778926	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028931	-	T
rs587778927	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996658	A	-
rs587778928	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040199	GT	-
rs587778929	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040201	T	A
rs587778930	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040215	TTC	-
rs587778931	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040219	TG	-
rs587778932	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996663	GAGG	-
rs587778933	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040240	G	A
rs587778934	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040270	-	TTATA
rs587778937	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040291	T	C
rs587778938	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040296	TAAATCA	ATTT
rs587778939	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042268	T	-
rs587778942	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047532	T	-
rs587778943	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047535	TT	-
rs587778944	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996677	-	A
rs587778946	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047587	AGATGGTCCCAAAGAAGGA	-
rs587778947	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047608	-	T
rs587778948	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047619	-	ACAT
rs587778949	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047640	A	TTCTT
rs587778950	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047653	T	-
rs587778953	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047667	CTTT	-
rs587778954	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047680	T	-
rs587778955	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996691	C	A,T
rs587778956	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048522	G	-
rs587778957	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048524	-	A
rs587778958	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048546	-	GATTACCCCTTCTG
rs587778959	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048562	-	ATTACCCCTTCTGATTGACAACTATGTGC
rs587778960	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048536	-	T
rs587778961	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048540	-	T
rs587778962	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048550	G	-
rs587778964	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048604	A	C
rs587778966	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996700	-	C
rs587778968	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996703	G	-
rs587778971	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048949	G	T
rs587778973	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000954	GA	-
rs587778975	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37049007	C	G
rs587778978	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050485	G	T
rs587778979	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050487	GTGAAGTGCC	-
rs587778980	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050493	TGCCTGG	-
rs587778981	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050529	TG	-
rs587778982	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050577	-	GAACACATTGTCTATAAAGCCTTGCGCTCACACATTCTGCCTCCTAA
rs587778984	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050539	-	T
rs587778987	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050563	CA	-
rs587778989	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050600	-	A
rs587778990	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050603	CTGC	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
rs587778992	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050606	C	T
rs587778996	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993569	-	A
rs587778997	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000979	G	-
rs587778998	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000991	A	G
rs587779001	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993521	C	A,T
rs587779006	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004466	TG	-
rs587779008	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993584	G	A,T
rs587779009	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37006998	T	-
rs587779012	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37006999	A	-
rs587779013	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993587	-	GA
rs587779014	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37007014	TGAA	-
rs587779015	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37007030	A	-
rs587779018	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008857	T	-
rs587779019	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008884	-	GA
rs587779021	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008905	G	A,C
rs587779022	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37011819	G	A
rs587779023	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37011848	TTCTCAGTTAAAAAAGT	-
rs587779024	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37011864	T	A
rs587779027	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012010	G	T
rs587779029	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993552	C	A,T
rs587779031	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012094	T	-
rs587779032	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	NA	NA	NA	NA	NA
rs587779033	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012099	-	T
rs587779035	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014430	A	G
rs587779036	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014423	TTCTAATAGAGAACTGATAGAAATT	-
rs587779037	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014485	GTTA	-
rs587779040	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993625	G	-
rs587779041	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017502	TTAGATCGT	-
rs587779042	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017499	T	A
rs587779043	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017526	TCCTT	-
rs587779045	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993631	A	-
rs587779046	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017575	A	-
rs587779047	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017581	AC	-
rs587779048	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017582	-	AC
rs587779050	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017599	GGTA	-
rs587779052	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020326	C	-
rs587779055	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020353	A	-
rs587779058	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020407	C	T
rs587779063	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416353	A	T
rs587779064	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416360	C	-
rs587779065	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416366	G	A
rs587779066	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416371	-	A
rs587779067	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416399	C	G,T
rs587779068	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416412	G	-
rs587779070	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416428	A	T
rs587779073	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429764	G	-
rs587779075	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429830	C	T
rs587779076	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429886	CT	-
rs587779079	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429914	GTTAT	-
rs587779083	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445589	CT	-
rs587779084	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445590	T	C
rs587779087	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463022	T	A
rs587779088	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463034	G	-
rs587779089	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463043	G	T
rs587779091	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463078	-	TC
rs587779092	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463088	A	T
rs587779093	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463131	T	A
rs587779094	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463144	-	C
rs587779097	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466675	C	T
rs587779100	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47470970	T	-
rs587779102	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403357	G	A,T
rs587779103	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47470990	-	T
rs587779104	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47470996	A	T
rs587779105	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471005	-	A
rs587779106	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471008	-	T
rs587779108	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471063	G	A
rs587779110	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475024	G	A
rs587779111	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475052	-	A
rs587779112	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475092	T	-
rs587779114	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475162	-	A
rs587779117	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475189	GT	-
rs587779118	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475235	-	ACTT
rs587779119	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475245	TA	-
rs587779120	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475247	AACA	-
rs587779121	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475249	CA	-
rs587779122	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475251	GA	-
rs587779123	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475272	TAAAAAACCTG	-
rs587779124	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475272	T	-
rs587779129	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476396	AT	-
rs587779131	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476407	TG	-
rs587779133	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476421	T	C
rs587779135	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476435	GGGTGTTT	-
rs587779136	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476457	C	G
rs587779138	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47407923	T	G
rs587779139	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476513	C	T
rs587779140	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476528	-	T
rs587779143	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478352	G	A
rs587779144	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478479	-	C
rs587779145	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408433	A	T
rs587779146	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480735	-	CATGTTGCAGAGCT
rs587779147	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480758	A	-
rs587779148	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480762	AG	-
rs587779149	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480782	C	-
rs587779151	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480830	ATCAT	-
rs587779152	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480859	T	A
rs587779157	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408490	GAAGTT	-
rs587779159	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408541	-	T
rs587779163	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410220	T	G
rs587779164	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410255	TG	-
rs587779165	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410298	CTC	-
rs587779169	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412412	A	G
rs587779170	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412420	C	T
rs587779172	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412443	AGAAA	TAAT
rs587779173	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412453	A	T
rs587779174	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412459	G	-
rs587779175	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403262	-	A
rs587779176	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412493	-	A
rs587779177	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403264	-	C
rs587779179	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412529	A	-
rs587779181	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412536	-	CT
rs587779182	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403114	TG	-
rs587779183	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412560	G	C
rs587779185	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414287	TCTG	-
rs587779188	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403273	G	-
rs587779189	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414339	A	-
rs587779190	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414344	G	T
rs587779191	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414349	GACT	-
rs587779192	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414364	C	-
rs587779193	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414419	G	T
rs587779194	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414420	T	-
rs587779195	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414420	T	C,G
rs587779197	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414418	G	A
rs587779198	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416294	A	G
rs587779199	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416323	-	NNNN
rs587779203	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799084	T	-
rs587779206	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799122	ATGAG	-
rs587779208	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799176	T	A
rs587779209	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799259	T	-
rs587779212	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799466	C	T
rs587779215	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799555	C	G
rs587779216	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799573	T	-
rs587779217	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799579	-	T
rs587779218	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799597	TC	G
rs587779219	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799611	AA	-
rs587779221	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799802	-	A
rs587779226	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800034	-	CT
rs587779227	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800040	G	A
rs587779231	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800100	T	C
rs587779232	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800110	T	A
rs587779234	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800313	G	A
rs587779237	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800362	TG	-
rs587779241	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800518	-	T
rs587779243	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800552	GATT	-
rs587779244	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800655	TCT	C
rs587779245	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800697	T	A
rs587779246	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800747	C	T
rs587779247	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800748	G	-
rs587779250	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800928	C	-
rs587779251	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800959	A	-
rs587779252	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47801003	G	A
rs587779255	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47801156	G	T
rs587779256	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803419	GA	-
rs587779258	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803506	-	T
rs587779259	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803515	GAGCTTA	-
rs587779260	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803588	-	C
rs587779263	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47804909	G	T
rs587779267	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47804958	G	T
rs587779274	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47805670	TGCA	-
rs587779279	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806203	G	A
rs587779287	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806282	GTACATTATTTTC	-
rs587779288	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806289	-	ATTA
rs587779289	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806314	-	A
rs587779291	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806355	TATGGTATGTGCAAATTGTTTTTTTCCACA	-
rs587779295	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806568	-	T
rs587779296	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806577	-	ATCTCCCA
rs587779297	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806603	-	A,NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
rs587779299	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806619	TGAGAAGATGA	-
rs587779301	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806650	-	ATTTC
rs587779315	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798635	A	T
rs587779318	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798677	C	T
rs587779319	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798693	G	-
rs587779320	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798721	-	T
rs587779324	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	6004060	T	C
rs587779326	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5989831	AT	TAAA
rs587779327	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5987595	-	NNNNNNNNNNNNNNNNNNNN
rs587779329	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	6005890	A	G
rs587779330	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5987034	-	T
rs587779333	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2;AIMP2	7	6009019	T	C,A
rs587779335	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5978684	GA	-
rs587779336	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	6004001	-	CA
rs587779337	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5978622	C	T
rs587779340	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	6003794	T	C,A
rs587779343	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5999116	G	C,A
rs587779344	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5997349	G	-
rs587779347	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5989957	T	C
rs587780538	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799350	G	A
rs587780670	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799773	-	A
rs587780683	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050572	T	-
rs587780724	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5987389	G	T
rs587781554	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020396	-	A
rs587782712	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47801020	AAGAA	-
rs63749795	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028833	C	T
rs63749802	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476552	G	T
rs63749804	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993599	C	-
rs63749811	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476474	G	-
rs63749813	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993649	GA	-
rs63749814	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429773	G	-
rs63749816	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993578	C	-
rs63749818	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37007002	C	A
rs63749820	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37007046	C	T
rs63749821	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803446	-	TA
rs63749827	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993623	C	T
rs63749828	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993623	C	-
rs63749829	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000958	G	C,T
rs63749830	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480812	G	A,T
rs63749831	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475051	AAT	-
rs63749832	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412514	A	-
rs63749837	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020448	G	-
rs63749838	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993620	A	T
rs63749839	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993620	A	-
rs63749843	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803449	C	G,T
rs63749845	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025932	A	-
rs63749848	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408418	AG	-
rs63749849	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429812	C	T
rs63749850	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429862	-	CA
rs63749852	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416311	-	A
rs63749854	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478336	G	T
rs63749859	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000976	T	C
rs63749863	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047545	C	-
rs63749867	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048954	C	A,T
rs63749868	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047559	ATAG	-
rs63749872	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408467	TT	-
rs63749873	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47795903	C	G
rs63749874	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799617	AAGA	-
rs63749876	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028837	A	-
rs63749878	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476432	-	A
rs63749897	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412455	A	-
rs63749900	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048596	G	A,C,T
rs63749902	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414271	T	-
rs63749906	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993651	T	G
rs63749909	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028891	T	C
rs63749913	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478351	T	-
rs63749914	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414381	T	A
rs63749915	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414377	A	T
rs63749916	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028894	-	T
rs63749917	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478507	C	T
rs63749920	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445616	A	T
rs63749923	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028902	C	T
rs63749926	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020379	C	-
rs63749929	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475251	G	-
rs63749930	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466699	CA	-
rs63749932	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476399	C	G,T
rs63749938	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800967	A	-
rs63749939	19142183	4292	MLH1	umls:C1333990	BeFree	The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.	0.329468128	2009	MLH1	3	36996702	G	A
rs63749939	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996702	G	A
rs63749942	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806281	CGT	-
rs63749944	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008873	A	-
rs63749945	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416326	-	T
rs63749947	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463091	G	T
rs63749950	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017557	C	T
rs63749956	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996652	-	T
rs63749959	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008863	-	A
rs63749963	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463141	A	-
rs63749965	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025748	G	-
rs63749975	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480766	TG	-
rs63749979	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047556	T	-
rs63749980	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798725	C	A,G,T
rs63749981	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025941	A	-
rs63749983	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478449	T	-
rs63749984	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410340	G	C,T
rs63749986	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047642	G	-
rs63749990	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000985	T	G
rs63749991	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414318	C	A,G
rs63749993	22739024	4360	MRC1	umls:C1333990	BeFree	The hMSH2(M688R) mismatch repair (MMR) gene mutation has been found in five large families from Tenerife, Spain, suggesting it is a Lynch syndrome or hereditary non-polyposis colorectal cancer (LS/HNPCC) founder mutation.	0.08	2012	MSH2	2	47476424	T	G
rs63749993	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476424	T	G
rs63749993	21225464	4436	MSH2	umls:C1333990	BeFree	Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS.	0.33183516	2011	MSH2	2	47476424	T	G
rs63749993	22739024	4436	MSH2	umls:C1333990	BeFree	The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.	0.33183516	2012	MSH2	2	47476424	T	G
rs63749995	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048998	C	A,G
rs63749999	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47801086	C	T
rs63750005	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000992	C	T
rs63750006	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429920	C	A,T
rs63750008	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480744	T	-
rs63750016	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047553	C	A
rs63750019	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798701	C	A,T
rs63750020	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025975	-	A
rs63750028	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996658	-	A
rs63750034	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017574	AA	-
rs63750035	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047570	AG	-
rs63750036	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040247	GG	-
rs63750037	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410274	C	T
rs63750039	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429804	T	-
rs63750042	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408415	C	G,T
rs63750046	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414398	-	AGCAGTCA
rs63750047	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475066	C	T
rs63750049	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5989923	T	-
rs63750052	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000978	TG	-
rs63750057	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993585	-	CCCA
rs63750059	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042276	T	G
rs63750060	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478469	CA	-
rs63750061	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048920	AAAAG	-
rs63750068	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463088	A	-
rs63750069	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410245	T	-
rs63750071	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025952	A	-
rs63750075	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800045	GT	-
rs63750081	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993584	G	-
rs63750084	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47482791	A	-
rs63750086	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429891	AG	-
rs63750087	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403357	G	-
rs63750091	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414315	-	T
rs63750094	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466723	A	-
rs63750097	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414338	C	T
rs63750098	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996648	T	A
rs63750103	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475025	G	-
rs63750104	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466741	-	G
rs63750106	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5987458	-	T
rs63750107	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412503	-	G
rs63750111	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800914	C	G
rs63750113	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475044	GACA	-
rs63750114	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37049015	C	A,T
rs63750115	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048591	T	-
rs63750131	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048595	CG	-
rs63750138	18176851	4292	MLH1	umls:C1333990	BeFree	Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.	0.329468128	2008	MSH6	2	47800297	C	A,T
rs63750138	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800297	C	A,T
rs63750138	18176851	2956	MSH6	umls:C1333990	BeFree	Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.	0.277111592	2008	MSH6	2	47800297	C	A,T
rs63750138	18176851	4436	MSH2	umls:C1333990	BeFree	Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.	0.33183516	2008	MSH6	2	47800297	C	A,T
rs63750139	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806488	C	T
rs63750140	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800798	C	T
rs63750144	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017599	G	A,C
rs63750145	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47482791	-	A
rs63750149	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478396	-	A
rs63750150	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047618	AT	-
rs63750152	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047664	T	-
rs63750160	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403378	G	-
rs63750161	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463091	GA	-
rs63750192	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040251	C	T
rs63750193	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040276	T	C
rs63750194	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47804984	-	A,TA
rs63750196	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803429	T	-
rs63750199	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403395	G	-
rs63750200	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475042	C	T
rs63750203	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475150	C	T
rs63750206	16982745	4292	MLH1	umls:C1333990	BeFree	The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously identified polymorphisms (I219V and I219L) and two with confirmed hereditary nonpolyposis colorectal cancer (HNPCC) syndrome mutations (G224D and G67R).	0.329468128	2006	MLH1	3	36996701	G	A,T
rs63750206	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996701	G	A,T
rs63750210	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410095	C	-
rs63750211	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008904	A	G
rs63750211	22773173	4292	MLH1	umls:C1333990	BeFree	Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.	0.329468128	2012	MLH1	3	37008904	A	G
rs63750212	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017571	-	T
rs63750214	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410215	T	A,G
rs63750216	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993633	C	G
rs63750217	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048955	G	A
rs63750224	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466713	C	G
rs63750232	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476435	G	C
rs63750233	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478408	C	-
rs63750234	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476381	G	A,C
rs63750245	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416383	C	A,T
rs63750246	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5995574	TG	-
rs63750250	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5986933	-	T
rs63750253	24040339	2956	MSH6	umls:C1333990	BeFree	We recreated three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095H and MSH6-L1354Q, and found all three to behave like wild type MSH6.	0.277111592	2013	MSH6	2	47803531	G	A
rs63750258	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800966	G	T
rs63750261	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5999110	G	A
rs63750262	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806474	-	AATG
rs63750267	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429794	C	G,T
rs63750276	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414335	G	T
rs63750280	16426447	4436	MSH2	umls:C1333990	BeFree	We identified in the HNPCC family a novel germline missense (c.1864C>A) mutation in exon 12 of hMSH2 gene, leading to a proline 622 to threonine (p.Pro622Thr) amino acid substitution.	0.33183516	2006	MSH2	2	47475129	C	A,G
rs63750281	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996705	T	A
rs63750282	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048914	-	A
rs63750291	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480818	C	T
rs63750293	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025859	A	-
rs63750296	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47804990	-	A
rs63750300	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040267	T	A
rs63750302	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429848	C	T
rs63750303	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014485	G	A,T
rs63750305	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025727	-	TA
rs63750309	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047536	T	-
rs63750312	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475122	T	G
rs63750316	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025874	C	T
rs63750317	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028916	-	T
rs63750318	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408490	G	T
rs63750319	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020360	-	A
rs63750329	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412531	AGTG	TT
rs63750334	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403336	GA	-
rs63750337	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403354	C	-
rs63750339	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020442	C	-
rs63750342	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47791092	G	A
rs63750346	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478355	C	-
rs63750347	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412522	C	G,T
rs63750352	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403345	-	G
rs63750356	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803683	C	T
rs63750357	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800597	-	ATTA
rs63750362	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463138	-	T
rs63750364	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412455	-	A
rs63750375	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047565	CA	-
rs63750377	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803567	A	-
rs63750380	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012071	C	-
rs63750382	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410256	G	A,T
rs63750384	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463052	G	-
rs63750385	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012087	-	A
rs63750386	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047597	A	T
rs63750393	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471008	GA	-
rs63750396	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416388	G	A
rs63750398	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476451	G	A,T
rs63750401	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410143	A	-
rs63750403	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478292	T	G
rs63750406	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47470986	A	-
rs63750408	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410135	T	-
rs63750420	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048981	GTACATA	-
rs63750426	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412464	TT	-
rs63750434	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020432	G	-
rs63750436	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463088	-	A
rs63750437	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000977	G	A
rs63750439	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799173	AT	-
rs63750451	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5986883	G	A
rs63750458	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408552	T	G
rs63750463	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478423	-	A
rs63750464	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042289	-	A
rs63750466	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403195	G	A
rs63750469	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996692	AA	-
rs63750472	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025659	G	-
rs63750474	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471003	AAACA	-
rs63750477	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5986997	T	-
rs63750482	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028794	C	-
rs63750483	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025790	C	G,T
rs63750484	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050545	T	A
rs63750486	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047622	TTG	-
rs63750488	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412483	C	T
rs63750489	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020326	C	T
rs63750490	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5986925	T	A
rs63750493	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475100	C	G
rs63750495	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475053	TG	-
rs63750496	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429809	-	C
rs63750499	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050518	G	A,T
rs63750500	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37011860	A	T
rs63750501	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408536	ATTG	-
rs63750502	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416323	C	T
rs63750507	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004414	T	G
rs63750508	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475126	C	G,T
rs63750515	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37011828	T	A,G
rs63750516	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429784	G	-
rs63750521	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445644	T	G
rs63750523	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806263	-	AATAGCAAATGCAGTTGTTAAAGAACTTG
rs63750533	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020419	A	-
rs63750539	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004426	C	T
rs63750540	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025979	A	T
rs63750542	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004461	A	T
rs63750545	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476502	-	C
rs63750547	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020312	T	C,G
rs63750549	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048532	G	A,T
rs63750551	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410257	AA	-
rs63750552	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798797	G	T
rs63750554	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806329	C	G,T
rs63750558	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429785	C	T
rs63750561	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050517	G	A,T
rs63750563	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800996	C	T
rs63750564	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799818	C	A
rs63750572	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476565	T	-
rs63750574	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410337	G	A,T
rs63750580	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993659	A	C,G
rs63750581	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993608	G	-
rs63750582	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410217	G	A,T
rs63750583	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	NA	NA	NA	NA	NA
rs63750586	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429868	-	A
rs63750589	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403220	-	A
rs63750597	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466808	G	A,C
rs63750603	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37049017	G	A,C
rs63750604	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047577	G	A
rs63750610	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048563	C	T
rs63750611	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429854	C	G,T
rs63750614	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403225	-	G
rs63750615	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403333	G	T
rs63750617	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47803473	C	G,T
rs63750618	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478395	C	A
rs63750623	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480707	C	G,T
rs63750624	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410211	G	A
rs63750630	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416342	T	C
rs63750633	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47470979	T	-
rs63750636	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476492	C	T
rs63750639	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048912	G	A
rs63750640	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414405	T	C,G
rs63750641	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000997	A	G
rs63750644	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403336	G	-
rs63750645	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004435	C	-
rs63750656	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993632	G	T
rs63750658	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004449	-	AA
rs63750662	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466786	-	GA
rs63750663	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048925	G	T
rs63750675	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466774	G	-
rs63750677	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020436	-	C
rs63750682	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410314	C	-
rs63750690	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412485	GGACC	TTA
rs63750691	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017521	C	G
rs63750693	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047652	T	A,C
rs63750695	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5978675	AGTTA	-
rs63750697	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445629	T	A
rs63750701	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414330	A	-
rs63750703	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416370	AA	-
rs63750704	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410115	CA	-
rs63750706	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993609	C	A,T
rs63750710	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020411	A	C
rs63750712	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408412	CT	-
rs63750713	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025996	C	-
rs63750715	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025699	C	-
rs63750722	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476521	AGGA	-
rs63750726	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048581	C	T
rs63750726	23712482	4292	MLH1	umls:C1333990	BeFree	Evidence from clinical, histological, immunohistochemical, and molecular genetic data suggests that MLH1 c.1664T>C (p.Leu555Pro) is likely to be the pathogenic cause of Lynch syndrome in this family.	0.329468128	2014	MLH1	3	37048581	C	T
rs63750728	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403285	ACCACAGTGC	-
rs63750731	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47805696	-	T
rs63750735	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799789	AAAG	-
rs63750736	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020314	G	A,T
rs63750737	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47470999	AA	-
rs63750738	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466725	C	-
rs63750740	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048923	A	-
rs63750741	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799329	T	C
rs63750745	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993556	C	-
rs63750748	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025908	C	-
rs63750749	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025788	T	-
rs63750753	24040339	2956	MSH6	umls:C1333990	BeFree	We recreated three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095H and MSH6-L1354Q, and found all three to behave like wild type MSH6.	0.277111592	2013	MSH6	2	47803507	C	A,G,T
rs63750760	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025751	C	T
rs63750764	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014447	T	-
rs63750767	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806607	-	TCAAAAGGGACATAGAAAA
rs63750769	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048990	TG	-
rs63750778	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416362	C	T
rs63750780	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466699	C	T
rs63750781	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004444	C	G,T
rs63750786	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410319	-	G
rs63750792	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993630	C	T
rs63750793	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	6004040	T	-
rs63750796	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020380	G	A,T
rs63750803	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478422	-	T,TT
rs63750806	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475124	-	GT
rs63750807	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445592	-	A
rs63750808	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47482797	C	T
rs63750809	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048952	T	C,G
rs63750814	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017575	-	A
rs63750819	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014499	-	G
rs63750822	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993614	G	-
rs63750823	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993614	G	A,T
rs63750824	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040249	C	-
rs63750828	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416351	G	A
rs63750833	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47801138	AG	-
rs63750843	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410235	C	G,T
rs63750844	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475029	T	C,G
rs63750845	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466734	A	-
rs63750849	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480816	C	A,T
rs63750850	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996689	G	A
rs63750853	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020436	C	-
rs63750854	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799405	-	TG
rs63750855	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028863	C	-
rs63750857	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480773	C	T
rs63750859	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37049006	TC	-
rs63750865	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37006992	G	-
rs63750866	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37006992	G	C
rs63750871	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	6002590	G	A
rs63750872	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476452	T	A
rs63750875	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475171	G	C
rs63750875	15929773	324	APC	umls:C1333990	BeFree	In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined.	0.007600372	2005	MSH2	2	47475171	G	C
rs63750875	21419771	4436	MSH2	umls:C1333990	BeFree	The MSH2 A636P mutation is a founder mutation in Ashkenazi Jews that causes Lynch syndrome, with a prevalence of 0.4%-0.7%.	0.33183516	2011	MSH2	2	47475171	G	C
rs63750875	15929773	4436	MSH2	umls:C1333990	BeFree	In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined.	0.33183516	2005	MSH2	2	47475171	G	C
rs63750875	18674656	4436	MSH2	umls:C1333990	BeFree	A founder mutation A636P in the MSH2 gene was found to be related to hereditary nonpolyposis colorectal cancer in Ashkenazi Jews.	0.33183516	2008	MSH2	2	47475171	G	C
rs63750875	17414604	4436	MSH2	umls:C1333990	BeFree	We previously described a founder mutation, MSH2*1906G >C (A636P) that causes HNPCC in 8/1345 (0.59%) of Ashkenazim with colorectal cancer.	0.33183516	2007	MSH2	2	47475171	G	C
rs63750881	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412504	A	C,T
rs63750885	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414375	-	AT
rs63750889	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017566	T	A
rs63750891	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37008824	T	G
rs63750893	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475176	C	-
rs63750894	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403320	T	A,G
rs63750896	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478366	T	-
rs63750899	15139004	4292	MLH1	umls:C1333990	BeFree	HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.	0.329468128	2004	MLH1	3	37048562	C	T
rs63750899	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048562	C	T
rs63750903	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	NA	NA	NA	NA	NA
rs63750904	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800702	GT	-
rs63750906	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004440	A	-
rs63750908	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012054	-	T
rs63750909	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799427	C	A,T
rs63750910	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410152	C	G
rs63750924	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410114	TC	-
rs63750933	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410240	G	-
rs63750934	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414368	C	T
rs63750936	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463121	C	T
rs63750938	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017555	T	A
rs63750940	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800834	CTCCTGGA	-
rs63750948	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014493	T	C,G
rs63750951	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403372	C	T
rs63750952	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996693	A	G
rs63750955	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798634	-	T
rs63750957	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445623	AG	-
rs63750960	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475154	GAAG	-
rs63750961	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476450	T	C
rs63750962	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020347	-	GC
rs63750970	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408478	C	T
rs63750971	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050536	CA	-
rs63750984	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403310	G	-
rs63750986	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463101	A	-
rs63750993	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020336	A	G,T
rs63750995	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410343	-	A
rs63750996	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47798689	C	T
rs63751007	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47482806	C	-
rs63751012	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993656	G	A,T
rs63751013	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410233	TACA	-
rs63751015	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025808	CT	-
rs63751017	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800714	C	T
rs63751018	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478493	T	G
rs63751022	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050523	G	A
rs63751027	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416387	G	A
rs63751029	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5999270	A	-
rs63751031	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028863	-	C
rs63751036	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478301	TA	-
rs63751044	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416323	CA	-
rs63751045	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37007038	-	C
rs63751056	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403301	T	-
rs63751058	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47806325	T	G
rs63751059	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429914	G	-
rs63751077	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47796035	C	A
rs63751079	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478488	-	G
rs63751081	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042272	G	T
rs63751087	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040271	C	G
rs63751090	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799563	T	-
rs63751094	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996624	A	G
rs63751099	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403219	C	A,T
rs63751105	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478353	G	A,C
rs63751108	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429881	C	T
rs63751109	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996633	C	T
rs63751110	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410322	T	C
rs63751115	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414357	TT	-
rs63751117	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480722	C	-
rs63751118	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025850	GA	-
rs63751119	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478312	G	A
rs63751120	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47470968	A	-
rs63751123	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476371	C	-
rs63751124	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37007007	G	T
rs63751127	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800177	C	A,T
rs63751129	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475074	T	-
rs63751131	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993591	-	T
rs63751133	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414286	GT	-
rs63751140	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471062	G	C
rs63751142	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429887	-	T
rs63751143	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478356	T	-
rs63751147	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416375	T	C
rs63751149	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471002	A	G,T
rs63751153	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37025823	C	T
rs63751155	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478289	C	A,G
rs63751156	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478289	CATT	-
rs63751158	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408444	-	T
rs63751159	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47414312	T	-
rs63751160	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412527	G	-
rs63751161	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476376	T	-
rs63751167	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799943	-	GTGA
rs63751169	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429857	-	G
rs63751192	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429884	-	CGAC
rs63751194	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017508	C	A,T
rs63751195	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408533	A	-
rs63751200	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048596	GA	-
rs63751206	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429908	CCTA	-
rs63751207	7937795	4436	MSH2	umls:C1333990	BeFree	We have identified the source of the genetic instability in one ovarian tumor as a point mutation (R524P) in the human mismatch-repair gene MSH2 (Salmonella MutS homologue), which has recently been shown to be involved in hereditary nonpolyposis colorectal cancer.	0.33183516	1994	MSH2	2	47466718	G	A,C,T
rs63751207	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466718	G	A,C,T
rs63751219	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429793	-	TA
rs63751221	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37001045	C	T
rs63751226	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410199	C	T
rs63751227	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410107	AT	-
rs63751236	22086974	4436	MSH2	umls:C1333990	BeFree	Pathogenicity of A600V variant in exon 12 of the MSH2 gene detected in a Japanese kindred with Lynch syndrome.	0.33183516	2012	MSH2	2	47475064	C	T
rs63751240	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047599	-	A
rs63751244	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042269	G	T
rs63751246	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403273	G	A,T
rs63751247	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047639	AAG	-
rs63751255	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996693	-	A
rs63751259	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020364	-	A
rs63751266	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996663	G	-
rs63751271	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429880	C	A
rs63751274	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410370	C	T
rs63751275	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048973	C	T
rs63751277	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040236	C	T
rs63751283	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014533	T	G
rs63751286	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012087	A	-
rs63751288	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412479	TTAT	-
rs63751290	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410126	C	-
rs63751298	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471023	C	T
rs63751299	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471023	C	-
rs63751301	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048573	GGGA	-
rs63751302	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37007055	C	T
rs63751310	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048595	C	T
rs63751315	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445563	T	A
rs63751317	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475233	C	G
rs63751319	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806490	GGAGACT	-
rs63751321	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800486	C	G,T
rs63751326	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410304	C	T
rs63751327	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47804985	-	A
rs63751328	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47805638	G	A
rs63751393	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042283	C	G
rs63751396	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993617	G	-
rs63751403	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463062	C	G,T
rs63751405	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799287	T	C
rs63751407	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47801035	CT	-
rs63751410	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47804982	GA	-
rs63751411	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47471041	G	T
rs63751412	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429869	C	A,T
rs63751413	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429869	C	-
rs63751415	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047662	T	G
rs63751419	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800088	C	G,T
rs63751421	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37001003	C	T
rs63751422	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5986838	G	A
rs63751426	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410205	C	T
rs63751428	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996686	C	A,T
rs63751429	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408466	C	T
rs63751431	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996633	-	AATC
rs63751435	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028865	G	-
rs63751439	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017539	-	AAGC
rs63751442	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800174	C	T
rs63751444	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410287	T	C,G
rs63751447	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480739	TAATTTC	-
rs63751449	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410181	A	-
rs63751453	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476496	-	T
rs63751460	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042284	C	T
rs63751465	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996696	G	A,T
rs63751466	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5977629	G	A
rs63751468	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028788	-	A
rs63751469	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47482779	C	A,T
rs63751472	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028908	G	T
rs63751477	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478306	G	A,T
rs63751480	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37011852	C	G
rs63751482	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47403327	CACGGCGAGGACGCGCTGCTGGCCGCCCG	-
rs63751483	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47416391	-	TT
rs63751486	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047551	T	-
rs63751592	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028785	AAGA	-
rs63751594	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047664	TCTCTTT	-
rs63751595	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004474	G	A,T
rs63751596	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040294	G	C,T
rs63751598	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017598	A	C,G
rs63751600	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463154	G	C,T
rs63751602	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412418	TTCAA	-
rs63751606	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004472	C	G,T
rs63751607	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37004472	C	-
rs63751608	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042321	T	C
rs63751613	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37040200	TT	-
rs63751614	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412556	AT	-
rs63751615	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012098	C	T
rs63751616	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047532	T	C
rs63751617	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429742	A	T
rs63751618	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480870	AG	-
rs63751620	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020312	-	T,TCCTGACAGTTT
rs63751621	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480703	TG	-
rs63751622	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410365	TG	-
rs63751624	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47480871	G	A,C
rs63751626	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445558	-	G
rs63751632	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047683	G	A
rs63751637	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012019	GA	-
rs63751639	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37047671	GGAAA	-
rs63751640	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47476367	G	A,C,T
rs63751642	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37000960	AGA	-
rs63751646	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445559	A	T
rs63751651	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37050486	AG	-
rs63751652	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37049013	AGCA	-
rs63751653	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37011862	A	-
rs63751656	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47466807	A	C,G,T
rs63751657	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042331	G	A,C
rs63751659	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37014437	-	T
rs63751662	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048609	G	A,T
rs63751665	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37001053	G	A,C,T
rs63751667	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429934	-	A
rs63751668	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475270	G	A,C
rs63751677	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028786	-	A
rs63751682	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37048608	A	C,G
rs63751685	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042325	G	-
rs63751689	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028928	-	T
rs63751691	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37001040	GCTTTCGAGGTG	-
rs63751693	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47445556	C	T
rs63751695	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47410369	ACAG	-
rs63751700	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47475261	AT	-
rs63751701	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993663	G	A,T
rs63751704	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	36996707	A	-
rs63751705	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37028923	G	C,T
rs63751707	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37017597	C	G,T
rs63751709	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37042317	GT	-
rs63751710	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37006995	AG	GTT
rs63751711	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37012099	G	A,T
rs63751712	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47429929	G	T
rs63751715	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020463	G	A,C,T
rs63751891	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993562	AGGGGTTATTCGGC	-
rs63751892	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1;EPM2AIP1	3	36993565	GGTTATTCGGCGGCTGG	-
rs71539659	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799852	C	-
rs758048239	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5987525	-	T,TTT
rs786201042	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47783243	C	T
rs786201050	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800213	-	G
rs786203036	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47463086	T	A,G
rs786204048	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47800127	AC	-
rs786204050	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47478342	G	-
rs786204104	NA	5395	PMS2	umls:C1333990	CLINVAR	NA	0.262258234	NA	PMS2	7	5987580	G	-
rs786204144	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47412550	-	A
rs786204180	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6;FBXO11	2	47806628	-	AATC
rs786204252	NA	2956	MSH6	umls:C1333990	CLINVAR	NA	0.277111592	NA	MSH6	2	47799090	TT	-
rs786204257	NA	4436	MSH2	umls:C1333990	CLINVAR	NA	0.33183516	NA	MSH2	2	47408450	-	T
rs786204317	NA	4292	MLH1	umls:C1333990	CLINVAR	NA	0.329468128	NA	MLH1	3	37020401	G	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000010	Recurrent urinary tract infections	MP:0003617	urinary bladder hypoplasia;HP:0002894	Neoplasm of the pancreas

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000010	Recurrent urinary tract infections	MP:0003257	abnormal abdominal wall morphology;HP:0002894	Neoplasm of the pancreas

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)