+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 59

+ Genes associated with diseases 10

Genes at Omim

ASB10, COMT, EYS, HERC2, HYDIN, KIR3DL1, KMT2C, MUC5B, PRSS1, ZP3,
ASB10 Glaucoma 1, open angle, F, 603383 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
EYS Retinitis pigmentosa 25, 602772 (3)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
ZP3 Oocyte maturation defect 3, 617712 (3)

Genes at Clinical Genomics Database

COMT, EYS, HERC2, PRSS1, ZNF592,
COMT Medication response, association with
EYS Retitinis pigmentosa 25
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
PRSS1 Pancreatitis, hereditary
ZNF592 Spinocerebellar ataxia, autosomal recessive 5

Genes at HGMD

Summary

Number of Variants: 317
Number of Genes: 59

Export to: CSV

ASB10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 7 rs759438517
dbSNP Clinvar 		150884266 136.73 CAG C QDFilter 0/1 78 FRAME_SHIFT HIGH None None None None None None None ASB10|0.051312988|62.24%

BCLAF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 6 rs7381749
dbSNP Clinvar 		136594292 179.77 T C QDFilter 0/1 176 NON_SYNONYMOUS_CODING MODERATE None 0.35 0.49 None None None None None None BCLAF1|0.862204176|4.44%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 6 rs62431285
dbSNP Clinvar 		136590613 42.77 T C QDFilter 0/1 113 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 6 rs62431286
dbSNP Clinvar 		136590640 96.77 A C QDFilter 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.50 None None None None None None BCLAF1|0.862204176|4.44%

CAMKK2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 12 rs761569371
dbSNP Clinvar 		121678327 40.73 CT C QDFilter 0/1 53 None None None None None None None None None CAMKK2|0.180647161|38.95%

CAPN12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 . 39227938 35.73 CAG C QDFilter 0/1 25 FRAME_SHIFT HIGH None None None None None None None CAPN12|0.032054241|68.58%

COMT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 22 rs61143203,rs796882455
dbSNP Clinvar 		19954916 44.73 AT A QDFilter 0/1 61 None None None 0.23263 0.23260 None None None None None None COMT|0.166055932|40.8%

CTB-78H18.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 5 rs779152750
dbSNP Clinvar 		171201610 41.77 A C QDFilter 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 5 . 171201605 50.77 G T QDFilter 0/1 26 SYNONYMOUS_CODING LOW None None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 5 rs780676687
dbSNP Clinvar 		171201620 31.77 A C QDFilter 0/1 31 SYNONYMOUS_CODING LOW None None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 5 rs758832220
dbSNP Clinvar 		171201615 37.77 A C QDFilter 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.71 None None None None None None None

EDEM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 20 . 33703482 45.77 C G QDFilter 0/1 211 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.01 None None None None None None EDEM2|0.351037677|24.03%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 20 . 33703527 83.77 A G QDFilter 0/1 177 SYNONYMOUS_CODING LOW None None None None None None None EDEM2|0.351037677|24.03%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 20 . 33703526 80.77 C T QDFilter 0/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.26 None None None None None None EDEM2|0.351037677|24.03%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 20 rs774344197
dbSNP Clinvar 		33703524 71.77 G A QDFilter 0/1 183 SYNONYMOUS_CODING LOW None None None None None None None EDEM2|0.351037677|24.03%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 20 rs780240416
dbSNP Clinvar 		33703519 69.77 A T QDFilter 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None EDEM2|0.351037677|24.03%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 20 . 33703507 119.77 T C QDFilter 0/1 195 NON_SYNONYMOUS_CODING MODERATE None 0.61 0.00 None None None None None None EDEM2|0.351037677|24.03%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 20 . 33703504 92.77 C T QDFilter 0/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.88 0.00 None None None None None None EDEM2|0.351037677|24.03%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 20 . 33703480 45.77 A C QDFilter 0/1 219 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.00 None None None None None None EDEM2|0.351037677|24.03%

EYS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 6 . 65300290 99.77 T G QDFilter 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None EYS|0.327790298|25.63%

FABP7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 6 . 123101003 130.77 A C QDFilter 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.33 None None None None None None FABP7|0.219483528|34.44%

FAM153B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 5 rs201971561
dbSNP Clinvar 		175526030 99.77 A G QDFilter 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.03491 0.62 0.00 None None None None None None FAM153B|0.000349648|99.23%

GOLGA6L2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 15 rs68177477
dbSNP Clinvar 		23686113 163.73 C G QDFilter 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00 None None None None None None GOLGA6L2|0.000844228|96.42%

GXYLT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 12 . 42499694 72.77 A T QDFilter 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None GXYLT1|0.137586291|44.77%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 12 rs74583427
dbSNP Clinvar 		42499701 117.77 C A QDFilter 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None GXYLT1|0.137586291|44.77%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 12 rs77044712
dbSNP Clinvar 		42499692 72.77 A T QDFilter 0/1 67 STOP_GAINED HIGH None None None None None None None GXYLT1|0.137586291|44.77%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 12 rs78536827
dbSNP Clinvar 		42499714 111.77 T C QDFilter 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.33 0.32 None None None None None None GXYLT1|0.137586291|44.77%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 12 rs79044728
dbSNP Clinvar 		42499690 78.77 T C QDFilter 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None GXYLT1|0.137586291|44.77%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 12 rs76555438
dbSNP Clinvar 		42499711 108.77 C A QDFilter 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None GXYLT1|0.137586291|44.77%

HERC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 15 rs773700445
dbSNP Clinvar 		28518130 52.77 G C QDFilter 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None HERC2|0.10570597|50.1%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 15 rs766763181
dbSNP Clinvar 		28518135 55.77 C T QDFilter 0/1 32 SYNONYMOUS_CODING LOW None None None None None None None HERC2|0.10570597|50.1%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 15 rs201979656
dbSNP Clinvar 		28518136 55.77 G A QDFilter 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.13 None None None None None None HERC2|0.10570597|50.1%

HLA-DQA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 6 rs752032457
dbSNP Clinvar 		32713821 58.77 C A QDFilter 0/1 127 SYNONYMOUS_CODING LOW None None None None None None None HLA-DQA2|0.014479011|77.5%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 6 rs116659129
dbSNP Clinvar 		32713828 41.77 G A QDFilter 0/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.03258 0.37 0.02 None None None None None None HLA-DQA2|0.014479011|77.5%

HLA-DQB2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 6 rs201563919
dbSNP Clinvar 		32726769 64.77 A G QDFilter 0/1 100 SYNONYMOUS_CODING LOW None None None None None None None HLA-DQB2|0.00469019|86.22%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 6 rs200716952
dbSNP Clinvar 		32726774 70.77 C T QDFilter 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.10 None None None None None None HLA-DQB2|0.00469019|86.22%

HRC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 rs201468812
dbSNP Clinvar 		49657620 48.77 T C QDFilter 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.03415 0.03415 0.38 0.00 None None None None None None HRC|0.0162712|76.28%

HYDIN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 16 rs12102425
dbSNP Clinvar 		70934974 36.77 T C QDFilter 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.05900 0.86 None None None None None None HYDIN|0.080749251|55.02%

IGHV1-3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 14 rs114502996
dbSNP Clinvar 		106471437 237.77 G T QDFilter 0/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.28 0.01 None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 14 rs199743220
dbSNP Clinvar 		106471426 238.77 G T QDFilter 0/1 130 SYNONYMOUS_CODING LOW None None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 14 rs201932522
dbSNP Clinvar 		106471417 223.77 G A QDFilter 0/1 135 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 14 rs200773107
dbSNP Clinvar 		106471410 57.77 T C QDFilter 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 1.00 0.00 None None None None None None None

IGHV4-39
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 14 rs113208890
dbSNP Clinvar 		106878038 50.77 G A QDFilter 0/1 39 SYNONYMOUS_CODING LOW None None None None None None None None

IGHV7-81
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 14 rs149038822
dbSNP Clinvar 		107282926 49.77 A T QDFilter 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.73 0.00 None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 14 rs201762529
dbSNP Clinvar 		107282935 67.77 A T QDFilter 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None

IGLV5-37
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 22 rs201204859
dbSNP Clinvar 		22782234 138.77 G C QDFilter 0/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.01 None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 22 rs202098056
dbSNP Clinvar 		22782235 138.77 G A QDFilter 0/1 193 NON_SYNONYMOUS_CODING MODERATE None 0.22 0.00 None None None None None None None

IGLV5-45
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 22 rs780772891
dbSNP Clinvar 		22730583 292.77 G A QDFilter 0/1 247 SYNONYMOUS_CODING LOW None None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 22 rs61731380
dbSNP Clinvar 		22730566 410.77 G C QDFilter 0/1 256 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 22 rs753958931
dbSNP Clinvar 		22730595 223.77 T A QDFilter 0/1 223 SYNONYMOUS_CODING LOW None None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 22 rs565651332
dbSNP Clinvar 		22730586 311.77 T C QDFilter 0/1 238 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None None

IGLV5-48
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 22 rs539733792
dbSNP Clinvar 		22707564 227.77 G C QDFilter 0/1 199 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.33 0.00 None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 22 rs200716375
dbSNP Clinvar 		22707316 184.77 T C QDFilter 0/1 190 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None

IL32
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 16 rs71818662
dbSNP Clinvar 		3119297 249.73 C CG QDFilter 0/1 138 FRAME_SHIFT HIGH None None None None None None None IL32|0.000095479|99.95%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 16 rs2981599
dbSNP Clinvar 		3119304 243.77 A G QDFilter 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.67 0.00 None None None None None None IL32|0.000095479|99.95%

KCNJ12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 17 rs76518282
dbSNP Clinvar 		21319079 1060.77 C A QDFilter 0/1 573 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.95 None None None None None None KCNJ12|0.437556296|18.82%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 17 rs66981137
dbSNP Clinvar 		21319908 870.77 C T QDFilter 0/1 457 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None KCNJ12|0.437556296|18.82%

KIR3DL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 rs643347
dbSNP Clinvar 		55329901 92.77 A G QDFilter 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.59026 0.59030 0.31304 1.00 0.00 None None None None None None KIR3DL1|0.000640018|97.61%

KMT2C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 7 rs2537263
dbSNP Clinvar 		151945140 69.77 C T QDFilter 0/1 109 SYNONYMOUS_CODING LOW None None None None None None None KMT2C|0.088346598|53.58%

LILRA6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 rs678876
dbSNP Clinvar 		54746081 209.77 T C QDFilter 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.75 0.00 None None None None None None RPS9|0.191676848|37.63%,LILRB3|0.000716345|97.17%,LILRA6|0.000800257|96.65%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 rs620207
dbSNP Clinvar 		54746051 135.77 A C QDFilter 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None RPS9|0.191676848|37.63%,LILRB3|0.000716345|97.17%,LILRA6|0.000800257|96.65%

MAP3K9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 14 rs397840789
dbSNP Clinvar 		71275773 35.73 GCCT G QDFilter 0/1 39 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None MAP3K9|0.189122244|37.92%

MTCH2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs72909882
dbSNP Clinvar 		47644289 46.77 C A QDFilter 0/1 59 SYNONYMOUS_CODING LOW None None None None None None None MTCH2|0.544905089|13.99%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs796379070
dbSNP Clinvar 		47644274 47.77 A G QDFilter 0/1 60 SYNONYMOUS_CODING LOW None None None None None None None MTCH2|0.544905089|13.99%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs796963858
dbSNP Clinvar 		47644277 47.77 G A QDFilter 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None MTCH2|0.544905089|13.99%

MUC12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 7 rs78022349
dbSNP Clinvar 		100616199 30.77 T C QDFilter 0/1 110 SYNONYMOUS_CODING LOW None None None None None None None MUC12|0.000890812|96.07%

MUC16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 rs77650227
dbSNP Clinvar 		8999518 36.77 A G QDFilter 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.82 None None None None None None MUC16|0.001379523|93.47%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 rs199713185
dbSNP Clinvar 		9009705 57.77 A G QDFilter 0/1 60 SYNONYMOUS_CODING LOW None None None None None None None MUC16|0.001379523|93.47%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 rs200995334
dbSNP Clinvar 		9009706 54.77 A C QDFilter 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.06 None None None None None None MUC16|0.001379523|93.47%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 rs201630664
dbSNP Clinvar 		9009711 54.77 T A QDFilter 0/1 60 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None MUC16|0.001379523|93.47%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 rs76629162
dbSNP Clinvar 		8997454 75.77 G A QDFilter 0/1 81 SYNONYMOUS_CODING LOW None None None None None None None MUC16|0.001379523|93.47%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 rs73001893
dbSNP Clinvar 		8997463 69.77 C T QDFilter 0/1 84 SYNONYMOUS_CODING LOW None None None None None None None MUC16|0.001379523|93.47%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 rs113387108
dbSNP Clinvar 		8997472 45.77 C T QDFilter 0/1 91 SYNONYMOUS_CODING LOW None None None None None None None MUC16|0.001379523|93.47%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 rs560877359
dbSNP Clinvar 		9009690 30.77 C T QDFilter 0/1 63 SYNONYMOUS_CODING LOW None None None None None None None MUC16|0.001379523|93.47%

MUC20
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 3 rs202171251
dbSNP Clinvar 		195453042 131.77 T C QDFilter 0/1 233 NON_SYNONYMOUS_CODING MODERATE None 0.00359 0.00151 0.29 0.00 None None None None None None MUC20|0.001041752|95.22%

MUC3A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 7 rs77636516
dbSNP Clinvar 		100550384 90.77 C T QDFilter 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None MUC3A|0.001683398|91.94%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 7 rs764198010
dbSNP Clinvar 		100550376 69.77 C T QDFilter 0/1 145 SYNONYMOUS_CODING LOW None None None None None None None MUC3A|0.001683398|91.94%

MUC5B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs79220674
dbSNP Clinvar 		1260163 60.77 C T QDFilter 0/1 90 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None MUC5B|0.001251586|94.15%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs80092233
dbSNP Clinvar 		1258175 404.77 C T QDFilter 0/1 243 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None MUC5B|0.001251586|94.15%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs78678736
dbSNP Clinvar 		1260157 82.77 G C QDFilter 0/1 89 SYNONYMOUS_CODING LOW None 0.00300 None None None None None None MUC5B|0.001251586|94.15%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs78177850
dbSNP Clinvar 		1260160 79.77 T G QDFilter 0/1 89 SYNONYMOUS_CODING LOW None None None None None None None MUC5B|0.001251586|94.15%

MUC6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs72311383
dbSNP Clinvar 		1016988 218.73 ATGT A QDFilter 0/1 209 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None MUC6|0.00166044|92.04%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs78992004
dbSNP Clinvar 		1017068 195.77 C T QDFilter 0/1 174 SYNONYMOUS_CODING LOW None None None None None None None MUC6|0.00166044|92.04%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs79277162
dbSNP Clinvar 		1017074 263.77 A G QDFilter 0/1 167 SYNONYMOUS_CODING LOW None None None None None None None MUC6|0.00166044|92.04%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs74990443
dbSNP Clinvar 		1017088 302.77 A C QDFilter 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.04 -2.14 0.00 0.09287 T None None None None MUC6|0.00166044|92.04%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs34912894
dbSNP Clinvar 		1017381 33.77 G C QDFilter 0/1 232 NON_SYNONYMOUS_CODING MODERATE None 0.00 -1.77 None None None None None None MUC6|0.00166044|92.04%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs77216712
dbSNP Clinvar 		1017461 251.77 G T QDFilter 0/1 210 SYNONYMOUS_CODING LOW None None None None None None None MUC6|0.00166044|92.04%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs372717767
dbSNP Clinvar 		1017307 118.77 G A QDFilter 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.02240 0.97 1.46 None None None None None None MUC6|0.00166044|92.04%

OR4C5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs200811929
dbSNP Clinvar 		48387238 181.77 G A QDFilter 0/1 202 SYNONYMOUS_CODING LOW None None None None None None None OR4C5|0.011466291|79.62%

OR8U1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs201664860
dbSNP Clinvar 		56143906 215.77 C T QDFilter 0/1 157 SYNONYMOUS_CODING LOW None None None None None None None OR8U1|0.013503046|78.21%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs199998773
dbSNP Clinvar 		56143963 47.77 A G QDFilter 0/1 87 SYNONYMOUS_CODING LOW None None None None None None None OR8U1|0.013503046|78.21%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs374830614
dbSNP Clinvar 		56143907 215.77 A G QDFilter 0/1 153 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.07 None None None None None None OR8U1|0.013503046|78.21%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs113434967
dbSNP Clinvar 		56143903 242.77 G T QDFilter 0/1 156 SYNONYMOUS_CODING LOW None None None None None None None OR8U1|0.013503046|78.21%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs202086525
dbSNP Clinvar 		56143900 281.77 C T QDFilter 0/1 160 SYNONYMOUS_CODING LOW None None None None None None None OR8U1|0.013503046|78.21%

ORC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 6 rs767076705
dbSNP Clinvar 		88318940 72.77 A C QDFilter 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.11 None None None None None None ORC3|0.479989853|16.77%

PDE4DIP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 1 rs7547485
dbSNP Clinvar 		145021126 53.77 G A QDFilter 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.00738 0.90 None None None None None None PDE4DIP|0.07469644|56.36%

POU4F1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs762014663
dbSNP Clinvar 		79176483 59.73 CTGG C QDFilter 0/1 58 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None POU4F1|0.327802019|25.63%

PRIM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 6 rs71214816
dbSNP Clinvar 		57398207 220.77 G T QDFilter 0/1 203 STOP_GAINED HIGH None None None None None None None PRIM2|0.188824743|37.96%

PRSS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 7 rs562372415
dbSNP Clinvar 		142460778 79.77 T C QDFilter 0/1 84 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None PRSS1|0.013065246|78.46%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 7 rs377124851
dbSNP Clinvar 		142460394 46.77 T C QDFilter 0/1 34 SYNONYMOUS_CODING LOW None 0.00319 0.00320 None None None None None None PRSS1|0.013065246|78.46%