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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
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Genes at Omim

FOXE1, HYDIN, MAP3K1, PIEZO1, WDR60, WDR81,
FOXE1 {Thyroid cancer, nonmedullary, 4}, 616534 (3)
Bamforth-Lazarus syndrome, 241850 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
PIEZO1 Lymphedema, hereditary, III, 616843 (3)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)

Genes at Clinical Genomics Database

FOXE1, MAP3K1, PIEZO1, WDR60, WDR81,
FOXE1 Congenital hypothyroidism
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Thyroid cancer, nonmedullary 4
MAP3K1 46,XY sex reversal 6
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

Genes at HGMD

Summary

Number of Variants: 35
Number of Genes: 35

Export to: CSV

C14orf180

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 mm170241ct 14 rs111285011,rs750841137,rs11278058,rs569942489
dbSNP
105055118 1761.73 TG... T . 1/1 24 CODON_DELETION MODERATE 0.60144 0.60140 0.37790 None None None None None None None

CARD10

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 mm170241ct 22 rs113275238,rs60611523
dbSNP
37906308 864.73 GC... G . 0/1 29 CODON_DELETION MODERATE 0.01777 0.30970 None None None None None None None

CCDC33

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 mm170241ct 15 rs10552820,rs35899977,rs397774110
dbSNP
74536400 2194.73 TAAG T . 1/1 42 CODON_DELETION MODERATE 0.37700 0.37700 0.46150 None None None None None None None

CHD1

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 mm170241ct 5 rs138635992
dbSNP
98192164 3264.73 AAGG A . 0/1 164 CODON_DELETION MODERATE 0.21266 0.21270 0.29454 None None None None None None None

EVA1A

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 mm170241ct 2 rs148155576
dbSNP
75720568 925.73 CG... C . 0/1 25 CODON_DELETION MODERATE 0.04413 0.04413 0.05919 None None None None None None None

FBXL21

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 mm170241ct 5 rs1160982,rs568134250
dbSNP
135276201 4873.73 AGTT A . 0/1 196 CODON_DELETION MODERATE 0.73423 0.73420 0.30509 None None None None None None None

FCGBP

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 mm170241ct 19 rs368150634
dbSNP
40392538 254.73 ACTT A . 0/1 18 CODON_DELETION MODERATE 0.00339 0.00340 0.00393 None None None None None None None

FOXE1

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 mm170241ct 9 rs766681475,rs71369530
dbSNP
100616700 751.73 AG... A . 1/1 31 CODON_DELETION MODERATE None None None None None None None

GPR112

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 mm170241ct X rs34255702,rs563570937
dbSNP
135474444 7929.73 AGAT A . 1/1 140 CODON_DELETION MODERATE 0.73722 0.73720 0.36492 None None None None None None None

HDGFRP2

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 mm170241ct 19 rs72100503,rs34068770
dbSNP
4499632 1496.73 AA... A . 1/1 36 CODON_DELETION MODERATE 0.51777 0.51780 0.03253 None None None None None None None

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 mm170241ct 16 rs67115747,rs375727122
dbSNP
70954703 1956.73 GG... G . 0/1 48 CODON_DELETION MODERATE None None None None None None None

KIAA0040

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 mm170241ct 1 rs150137790
dbSNP
175129924 475.73 CC... C . 0/1 12 CODON_DELETION MODERATE None None None None None None None

KRTAP17-1

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 mm170241ct 17 rs796334391,rs796251471
dbSNP
39471752 1236.73 TG... T . 0/1 17 CODON_DELETION MODERATE 0.23243 0.23240 0.21027 None None None None None None None

LRRC17

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 mm170241ct 7 rs3832497,rs531650613
dbSNP
102574999 5004.73 TGAA T . 0/1 216 CODON_DELETION MODERATE 0.63179 0.63180 0.25633 None None None None None None None

MAML3

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 mm170241ct 4 rs5862430,rs758674725,rs397881377,rs3051167
dbSNP
140651584 1120.73 TCTG T . 1/1 38 CODON_DELETION MODERATE 0.99101 0.99100 None None None None None None None

MAP3K1

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 mm170241ct 5 rs5868032,rs869174877,rs869264361,rs10552703,rs398064829
dbSNP
56177848 32729.73 TCAA T . 0/1 411 CODON_DELETION MODERATE None None None None None None None

NINL

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 mm170241ct 20 rs68078266,rs34410422
dbSNP
25457049 999.73 GC... G . 0/1 26 CODON_DELETION MODERATE 0.55731 0.55730 0.42148 None None None None None None None

NUCB2

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 mm170241ct 11 rs3842269,rs535406012
dbSNP
17352477 3879.73 TACA T . 1/1 80 CODON_DELETION MODERATE 0.25359 0.25360 0.22995 None None None None None None None

NUTM2F

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 mm170241ct 9 rs150455117
dbSNP
97080944 329.73 GAGA G . 0/1 20 CODON_DELETION MODERATE 0.75419 0.75420 0.29501 None None None None None None None

OR4X1

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 mm170241ct 11 rs76884411,rs57294041
dbSNP
48285981 1459.73 CCTT C . 0/1 85 CODON_DELETION MODERATE 0.60403 0.60400 0.30860 None None None None None None None

OTUD7A

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 mm170241ct 15 rs199744400
dbSNP
31776210 1641.73 TGGC T . 1/1 33 CODON_DELETION MODERATE 0.77137 0.77140 0.32143 None None None None None None None

PIEZO1

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 mm170241ct 16 rs150376294,rs750038587,rs3217718
dbSNP
88787607 1055.73 CCTT C . 0/1 41 CODON_DELETION MODERATE 0.21586 0.21590 0.28015 None None None None None None None

PIK3C2G

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 mm170241ct 12 rs35277916,rs796435817
dbSNP
18435398 5178.73 GCCC G . 0/1 209 CODON_DELETION MODERATE 0.30831 0.30830 0.34238 None None None None None None None

RDH13

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 mm170241ct 19 rs369079469
dbSNP
55560123 1952.73 GCTC G . 0/1 99 CODON_DELETION MODERATE 0.00319 0.00320 0.00341 None None None None None None None

REXO1

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 mm170241ct 19 rs149465929
dbSNP
1825927 567.73 TCTC T . 0/1 26 CODON_DELETION MODERATE 0.30012 0.30010 0.24181 None None None None None None None

RTKN2

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 mm170241ct 10 rs149331212,rs59044276
dbSNP
63976912 17678.73 TA... T . 0/1 534 CODON_DELETION MODERATE 0.14058 0.14060 0.18531 None None None None None None None

SH2D5

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 mm170241ct 1 rs550382801
dbSNP
21049332 809.73 GGCC G . 0/1 24 CODON_DELETION MODERATE 0.00080 0.00080 None None None None None None None

SP8

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 mm170241ct 7 rs372591893
dbSNP
20824940 287.73 AGCC A . 0/1 19 CODON_DELETION MODERATE 0.09205 0.09205 0.23883 None None None None None None None

TNRC6B

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 mm170241ct 22 rs10617561,rs66700157,rs139908
dbSNP
40697176 1200.73 TGCA T . 1/1 35 CODON_DELETION MODERATE 0.25739 0.25740 None None None None None None None

TP53TG5

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 mm170241ct 20 rs10546815,rs562359566
dbSNP
44004155 419.73 CATT C . 0/1 28 CODON_DELETION MODERATE 0.38658 0.38660 0.48961 None None None None None None None

TSNAXIP1

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 mm170241ct 16 rs572645443,rs56304438
dbSNP
67859707 1918.73 CAGG C . 0/1 82 CODON_DELETION MODERATE 0.00100 0.00100 0.00566 None None None None None None None

USP20

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 mm170241ct 9 rs10602985,rs760862530,rs398096692
dbSNP
132630664 1327.73 TGAC T . 0/1 45 CODON_DELETION MODERATE 0.84864 0.84860 0.19048 None None None None None None None

WDR60

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 mm170241ct 7 rs145233696,rs3833679
dbSNP
158664074 2108.73 TGAA T . 0/1 90 CODON_DELETION MODERATE 0.11641 0.11640 0.15404 None None None None None None None

WDR81

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 mm170241ct 17 rs35048651,rs577690948
dbSNP
1631340 811.73 TGAG T . 0/1 33 CODON_DELETION MODERATE 0.21186 0.21190 0.18584 None None None None None None None

ZNF284

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 mm170241ct 19 rs139900131,rs369411341
dbSNP
44589999 8518.73 TCTC T . 1/1 149 CODON_DELETION MODERATE 0.45088 0.45090 0.44731 None None None None None None None