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 at Omim

KIT, TRAF3,
KIT Piebaldism, 172800 (3)
Mast cell disease, 154800 (3)
Leukemia, acute myeloid, 601626 (3)
Germ cell tumors, 273300 (3)
Gastrointestinal stromal tumor, familial, 606764 (3)
TRAF3 {?Herpes simplex encephalitis, susceptibility to, 3}, 614849 (3)

Genes at Clinical Genomics Database

KIT, TRAF3,
KIT Gastrointestinal stromal tumor
TRAF3 Herpes simplex encephalitis, susceptibility to, 3

Genes at HGMD

Summary

Number of Variants: 418
Number of Genes: 10

Export to: CSV

DROSHA

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 23 recalibrated filtered postcgp gqfiltered 5 . 31508826 17491.11 GT GT... PASS 1/2 13 FRAME_SHIFT HIGH None None None None None None None

KIT

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 23 recalibrated filtered postcgp gqfiltered 4 . 55595542 408.8 GT... G,GTA PASS 1/2 8 FRAME_SHIFT HIGH None None None None None None None

LRRC9

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 23 recalibrated filtered postcgp gqfiltered 14 . 60465851 27637.92 AA... A,... PASS 1/2 25 FRAME_SHIFT HIGH None None None None None None None

LTBR

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 23 recalibrated filtered postcgp gqfiltered 12 . 6494307 125.25 TT... T,... PASS 1/2 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

LURAP1L

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 23 recalibrated filtered postcgp gqfiltered 9 . 12775862 13634.31 T TG... PASS 1/2 62 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

MVP

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 23 recalibrated filtered postcgp gqfiltered 16 . 29848109 5114.02 CTT C,CT PASS 1/2 4 FRAME_SHIFT HIGH None None None None None None None

PGD

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 23 recalibrated filtered postcgp gqfiltered 1 . 10460530 367.38 CTTT C,CT PASS 1/2 10 FRAME_SHIFT HIGH None None None None None None None

SIGLEC7

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 23 recalibrated filtered postcgp gqfiltered 19 . 51645728 32443.74 C A,... PASS 1/2 12 FRAME_SHIFT HIGH None None None None None None None

SYCP2L

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 23 recalibrated filtered postcgp gqfiltered 6 . 10942761 11026.95 CTTT C,... PASS 1/2 6 None None None None None None None None None None

TRAF3

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 23 recalibrated filtered postcgp gqfiltered 14 . 103336581 2399.46 CAA C,... PASS 1/2 8 FRAME_SHIFT HIGH None None None None None None None
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 23 recalibrated filtered postcgp gqfiltered 22 . 23998456 934.38 GT G,GTT PASS 1/2 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 23138946 1022.0 GAA G,GA PASS 1/2 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 22904902 58421.32 T C,G PASS 1/2 181 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 22559572 759.66 CGG C,CG PASS 1/2 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 46124537 25159.86 GCC G,GC PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 43904065 420.55 AG... AG... PASS 1/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 13399006 1174.99 TC T,... PASS 1/2 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64255723 1015.88 A AG... PASS 1/2 19 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63999955 41.44 CT C,... PASS 1/2 2 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 44306616 3756.97 T TG... PASS 1/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 21 . 10497570 715.17 CAAA C,... PASS 1/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 58470349 1710.46 T A,G PASS 1/2 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 57497007 231.15 ATTTT AT... PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62284374 1861.07 ATT A,AT PASS 1/2 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715264 2128.12 C T,* PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715262 2013.04 A T,* PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42677848 85945.81 G GA... PASS 1/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45536251 1339.41 GAA G,... PASS 1/2 54 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23421267 3252.28 ACCCC AC... PASS 1/2 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 21161813 18622.49 A C,AC PASS 1/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37179387 5536.31 G GC... PASS 1/2 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 18569204 289.35 CTT C,... PASS 1/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10641432 58154.04 CA C,CAA PASS 1/2 80 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 159274 2613.11 T TA... PASS 1/2 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 46758579 212.0 TAAA T,TAA PASS 1/2 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 46649888 542.32 CAA C,CA PASS 1/2 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 46343508 1178.9 TT... TT... PASS 1/2 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 46161318 138.93 CT C,TT PASS 1/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 40556996 9851.45 ACC A,... PASS 1/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 33207752 2165.07 C G,... PASS 1/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 32830811 33467.37 A G,AGG PASS 1/2 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 20790754 1328.71 GAAA G,... PASS 1/2 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 23755600 28689.5 T C,* PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 18194768 11334.75 G C,T PASS 1/2 64 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 15049669 565.71 CCTCT C,... PASS 1/2 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 14764236 8159.36 ATTTT AT... PASS 1/2 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 14611000 401.84 CTTT C,CTT PASS 1/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 10565811 1564.55 G GC... PASS 1/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 8072966 12824.02 CG... CG... PASS 1/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 7699477 4926.0 GT... G,... PASS 1/2 32 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 4839667 152.19 CT C,CTT PASS 1/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 80177972 419.76 TAC TA... PASS 1/2 8 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 76816666 220.14 GT G,... PASS 1/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 57620507 104802.11 A C,T PASS 1/2 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 54155316 752.8 TAA T,TA PASS 1/2 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 47869474 7053.08 TAA T,... PASS 1/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs554583265
dbSNP
3188666 8553.63 TA... T,... PASS 1/2 18 None None None 0.08966 0.08966 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs553199051
dbSNP
2951449 22585.31 TAAA TA... PASS 1/2 3 None None None 0.00479 0.00479 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 81422014 962.14 AT A,ATT PASS 1/2 35 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 751880 8498.91 CA C,CAA PASS 1/2 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 75630842 7503.11 G GT... PASS 1/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 75612663 561.19 CAA C,CA PASS 1/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 73350214 12106.56 A C,... PASS 1/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 50199698 25366.46 AG... A,... PASS 1/2 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 49846278 413.13 ATT A,AT PASS 1/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 59953190 3633.1 CTTTT CT... PASS 1/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 47599826 870.89 CTT C,CT PASS 1/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 42969200 843.54 G A,GGA PASS 1/2 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 42207487 37029.93 GC... GC... PASS 1/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 40782665 1645.58 ATT A,AT PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 34982963 6966.63 CTTT CT... PASS 1/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 32142451 574.67 CC... C,... PASS 1/2 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 31336607 31798.39 T A,... PASS 1/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 38486232 1090.81 CTT C,CT PASS 1/2 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 38318822 40343.85 CT... C,CT PASS 1/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 37626228 7206.98 CAA C,... PASS 1/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 10730004 3722.76 C CG,G PASS 1/2 71 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 8394438 203.31 GTTT G,GT PASS 1/2 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 8381931 4845.82 CAAA CA... PASS 1/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 8173484 84592.53 T A,C PASS 1/2 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 81028546 92951.6 CTT C,CT PASS 1/2 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 70148586 6476.14 AC... A,... PASS 1/2 101 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 70043009 4487.19 GA... G,... PASS 1/2 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 69117576 224.51 CTTT C,CTT PASS 1/2 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 70523627 8436.88 GTT GT... PASS 1/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 58543411 2967.91 GAA G,... PASS 1/2 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 57985166 6068.07 G C,T PASS 1/2 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 22000825 309.63 AA... A,... PASS 1/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 10531748 1802.19 GA... G,... PASS 1/2 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 8916969 14243.01 TA T,... PASS 1/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 3027709 10089.46 CTTT CT... PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 4882457 143.58 AG A,AGG PASS 1/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 4823742 20145.03 CAAAA C,... PASS 1/2 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101389427 59313.28 ATT A,AT PASS 1/2 65 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 101010656 95016.94 CTT C,CT PASS 1/2 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 90499960 57380.81 AT... A,... PASS 1/2 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 88147505 9613.35 CC... CC... PASS 1/2 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 98649525 12989.81 CT... CT... PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 64387395 140.25 AAATT A,... PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 45546940 93.2 CAA C,CA PASS 1/2 3 None None None None None None None None None None