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EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

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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

INF2, TRAK1,
INF2 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
Glomerulosclerosis, focal segmental, 5, 613237 (3)
TRAK1 Epileptic encephalopathy, early infantile, 68, 618201 (3)

Genes at Clinical Genomics Database

INF2,
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E

Genes at HGMD

Summary

Number of Variants: 626
Number of Genes: 21

Export to: CSV

AHNAK2

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 14 rs2819435
dbSNP Clinvar
105416220 1786.29 T A,G . 1/2 67 NON_SYNONYMOUS_CODING MODERATE None 0.07528 0.72180 0.13588 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%

ANGPT2

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 rs6559167
dbSNP Clinvar
6389889 2366.29 C A,G . 1/2 86 SYNONYMOUS_CODING LOW None 0.28974 0.28970 0.42734 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%

ARL14EPL

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs6880759
dbSNP Clinvar
115394626 1216.29 G A,T . 1/2 46 SYNONYMOUS_CODING LOW None 0.07208 0.67630 None None None None None None ARL14EPL|0.056195492|60.86%

ASCC2

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 22 rs10559800,rs146848976
dbSNP Clinvar
30234192 1195.19 TGCC TG... . 1/2 33 None None None None None None None None None ASCC2|0.130819121|45.77%

CHST15

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs746518074
dbSNP Clinvar
125780752 485.19 CGG C,CG . 1/2 43 None None None None None None None None None CHST15|0.068665566|57.81%

EEF1D

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 rs4874160
dbSNP Clinvar
144671244 2093.29 C A,G . 1/2 80 SYNONYMOUS_CODING LOW None 0.09545 0.64260 0.20869 None None None None None None EEF1D|0.083769043|54.48%

FAT1

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 rs1280098
dbSNP Clinvar
187538942 2579.29 T A,G . 1/2 90 NON_SYNONYMOUS_CODING MODERATE None 0.05312 0.05312 0.37663 0.15 0.00 None None None None None None FAT1|0.058949696|60.16%

HAVCR1

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 . 156479568 34952.19 CG... C,... . 1/2 90 CODON_INSERTION MODERATE None None None None None None None HAVCR1|0.00064813|97.55%

INF2

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 14 rs1128840
dbSNP Clinvar
105180706 3955.29 A C,G . 1/2 138 SYNONYMOUS_CODING LOW None 0.20967 0.69490 0.35022 None None None None None None INF2|0.011319835|79.76%

KIAA1328

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 18 rs3747896
dbSNP Clinvar
34647323 3593.29 T A,G . 1/2 124 SYNONYMOUS_CODING LOW None 0.08846 0.25940 0.29799 None None None None None None KIAA1328|0.145244522|43.68%

KRI1

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 19 rs570294642
dbSNP Clinvar
10676487 1316.19 G GC... . 1/2 89 None None None 0.39038 0.39040 None None None None None None KRI1|0.024995003|71.8%

LGALS8

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 1 rs2472126
dbSNP Clinvar
236702374 1490.29 G A,C . 1/2 53 SYNONYMOUS_CODING LOW None 0.06050 0.43330 0.43388 None None None None None None LGALS8|0.03333972|68.01%

LINC00955

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 rs72180705,rs66807249
dbSNP Clinvar
3590823 1680.19 GACAC G,GAC . 1/2 99 FRAME_SHIFT HIGH None None None None None None None LINC00955|0.001348255|93.6%

MDK

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 11 rs766268213,rs869078708
dbSNP Clinvar
46404340 1087.19 GCC G,GC . 1/2 107 FRAME_SHIFT HIGH None None None None None None None MDK|0.315014935|26.43%

MDN1

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 6 rs9351212
dbSNP Clinvar
90402840 2237.29 C A,G . 1/2 80 SYNONYMOUS_CODING LOW None 0.11601 0.11600 0.20444 None None None None None None MDN1|0.180988961|38.9%

MPRIP

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 17 rs779205841,rs202138172
dbSNP Clinvar
17039561 1311.19 CC... C,... . 1/2 50 None None None None None None None None None MPRIP|0.147447625|43.4%

OR51V1

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 11 rs11512276
dbSNP Clinvar
5221645 2310.29 C A,G . 1/2 82 NON_SYNONYMOUS_CODING MODERATE None 0.27995 0.32090 0.40160 0.10 1.00 None None None None None None OR51V1|0.004653668|86.28%

PKD1L2

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 16 rs8060294
dbSNP Clinvar
81248745 1613.29 A G,T . 1/2 62 STOP_GAINED HIGH None 0.39018 0.39020 0.35117 None None None None None None PKD1L2|0.005531409|85.17%

PODXL

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 7 rs547816245
dbSNP Clinvar
131241029 3255.19 GG... GG... . 1/2 37 CODON_INSERTION MODERATE None 0.04273 0.04273 0.43331 None None None None None None PODXL|0.000589481|97.98%

SLC6A18

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs7728814
dbSNP Clinvar
1225688 1247.29 T A,C . 1/2 47 SYNONYMOUS_CODING LOW None 0.04892 0.04892 0.41489 None None None None None None SLC6A18|0.029366379|69.67%

TRAK1

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs10634555,rs778048843
dbSNP Clinvar
42251577 1762.19 C CG... . 1/2 82 None None None None None None None None None TRAK1|0.190086585|37.8%
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 2 . 239007262 282.19 G GA... . 1/2 61 None None None None None None None None None SCLY|0.013575534|78.15%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 2 rs10186290
dbSNP Clinvar
239010796 436.29 G C,T . 1/2 18 None None None 0.01338 0.27660 0.14416 None None None None None None ESPNL|0.012510663|78.89%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs542892790,rs71870607
dbSNP Clinvar
13393166 271.19 CTT C,CT . 1/2 17 None None None 0.03754 0.03754 None None None None None None NUP210|0.038560061|66.28%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs537614378,rs755496925
dbSNP Clinvar
42244986 233.19 CTTTT C,CT . 1/2 27 None None None None None None None None None TRAK1|0.190086585|37.8%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs149748710,rs879065580
dbSNP Clinvar
40557271 508.19 TTGTG T,TTG . 1/2 31 None None None None None None None None None ZNF620|0.001759693|91.65%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs754907260,rs58776901
dbSNP Clinvar
41877473 430.19 C CA... . 1/2 35 None None None 0.29613 0.29610 None None None None None None ULK4|0.102483555|50.69%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs143060806,rs757051065
dbSNP Clinvar
42251895 265.19 TAA T,TA . 1/2 42 None None None None None None None None None TRAK1|0.190086585|37.8%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs11458566,rs397816305
dbSNP Clinvar
42706335 635.19 C CT... . 1/2 65 None None None None None None None None None ZBTB47|0.105149635|50.2%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs796136935
dbSNP Clinvar
51517625 496.19 TTG T,... . 1/2 16 None None None None None None None None None VPRBP|0.545380733|13.96%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs202115061
dbSNP Clinvar
52868668 843.19 G GC... . 1/2 41 None None None None None None None None None MUSTN1|0.079724722|55.24%,TMEM110-MUSTN1|0.26494415|30.29%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs760477100,rs748738073,rs559554949
dbSNP Clinvar
52559167 798.19 CGGG CG,C . 1/2 49 None None None None None None None None None NT5DC2|0.183780628|38.54%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs375408376
dbSNP Clinvar
69054212 263.19 CAA C,CA . 1/2 22 None None None 0.19669 0.19670 None None None None None None EOGT|0.11984929|47.48%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs11403360,rs33929837,rs397825532
dbSNP Clinvar
123332186 876.19 A AT... . 1/2 45 None None None 0.07748 0.48920 None None None None None None MYLK|0.503223171|15.7%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 . 138043535 1957.19 TA... T,... . 1/2 19 None None None None None None None None None NME9|0.027452046|70.67%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs559800541,rs756539975,rs3085726
dbSNP Clinvar
156255029 317.19 CA CAA,C . 1/2 22 None None None 0.72883 0.72880 None None None None None None KCNAB1|0.361215945|23.37%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 . 197766471 370.19 TA TAA,T . 1/2 17 None None None None None None None None None LMLN|0.094266091|52.31%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs756362038
dbSNP Clinvar
188598927 528.19 CAA C,CA . 1/2 41 None None None None None None None None None LPP|0.866185415|4.34%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs796763615,rs879119144
dbSNP Clinvar
191888452 880.19 GAA G,GA . 1/2 49 None None None None None None None None None FGF12|0.880382606|3.96%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 3 rs62948461,rs386398864
dbSNP Clinvar
189713345 584.19 G GT... . 1/2 23 None None None 0.23682 0.23680 None None None None None None P3H2|0.226348878|33.73%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 rs199972003
dbSNP Clinvar
25315637 264.19 C CT... . 1/2 54 None None None None None None None None None ZCCHC4|0.170597906|40.23%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 rs200321457,rs779252378
dbSNP Clinvar
31449019 426.19 GTT G,GT . 1/2 33 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 rs760262694
dbSNP Clinvar
56239102 1020.19 CAA C,CA . 1/2 56 None None None None None None None None None SRD5A3|0.046530156|63.72%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 rs71655737,rs71215481
dbSNP Clinvar
73933671 897.19 AT... A,ATG . 1/2 37 None None None 0.35164 0.35160 None None None None None None COX18|0.044414214|64.37%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 rs34599411
dbSNP Clinvar
85465390 859.19 ATT A,AT . 1/2 35 None None None 0.00060 0.34920 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 . 88312251 642.19 GTT G,GT . 1/2 38 None None None None None None None None None HSD17B11|0.055099771|61.16%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 rs142413098,rs879185330,rs879019131
dbSNP Clinvar
88532182 524.19 A AG... . 1/2 41 None None None None None None None None None DSPP|0.054175637|61.42%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 rs35239689,rs60181711
dbSNP Clinvar
88585217 969.19 ATT A,AT . 1/2 44 None None None 0.34864 0.34860 None None None None None None DMP1|0.009519189|81.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 . 151186064 1179.19 CA... C,... . 1/2 26 None None None 0.25679 0.25680 None None None None None None LRBA|0.967418531|1.79%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 rs34181980
dbSNP Clinvar
153884092 1187.19 GGT GG... . 1/2 58 None None None None None None None None None FHDC1|0.013990925|77.88%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 4 rs140255456
dbSNP Clinvar
175560523 308.19 AT... A,ATG . 1/2 22 None None None None None None None None None GLRA3|0.247557186|31.77%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs3840334,rs772413321,rs70955705
dbSNP Clinvar
31325428 337.19 TACAC T,TAC . 1/2 29 None None None None None None None None None CDH6|0.802178804|5.78%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs750831630,rs530249883,rs5867881
dbSNP Clinvar
52781376 588.19 GTTT GT,G . 1/2 33 None None None 0.11740 None None None None None None FST|0.995211585|0.8%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs372188549
dbSNP Clinvar
72204947 196.19 CTT C,CT . 1/2 19 None None None None None None None None None TNPO1|0.577927625|12.67%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs201824290,rs530125716
dbSNP Clinvar
72798502 1008.19 GTTT GT,G . 1/2 56 None None None None None None None None None BTF3|0.517722757|15.07%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs373206248
dbSNP Clinvar
96101031 333.19 TAAAA T,TA . 1/2 58 None None None None None None None None None CAST|0.162925975|41.16%,ERAP1|0.109230521|49.33%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs369582684
dbSNP Clinvar
96219738 539.19 TT... T,... . 1/2 19 None None None None None None None None None ERAP2|0.036210068|67.06%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs771754687
dbSNP Clinvar
97914148 602.19 TAAAA T,TAA . 1/2 21 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 . 100145662 769.19 A AA... . 1/2 34 None None None 0.01797 None None None None None None ST8SIA4|0.510612545|15.35%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs70988555
dbSNP Clinvar
122359502 684.19 A AA... . 1/2 39 None None None None None None None None None SNX24|0.577823246|12.68%,PPIC|0.174152283|39.77%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs377236205,rs34398324,rs57925933
dbSNP Clinvar
123972785 599.19 T TA... . 1/2 40 None None None None None None None None None ZNF608|0.542573681|14.11%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs5871217
dbSNP Clinvar
125877659 474.19 G GA... . 1/2 28 None None None 0.96246 0.96250 None None None None None None ALDH7A1|0.08379131|54.47%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs764508155
dbSNP Clinvar
141371557 384.19 CTTTT C,CT . 1/2 34 None None None None None None None None None GNPDA1|0.550159148|13.7%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 . 153674536 718.19 TT... T,... . 1/2 38 None None None None None None None None None GALNT10|0.294160996|28.11%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs754666907,rs372587161
dbSNP Clinvar
176729736 1812.19 ACCC A,ACC . 1/2 82 None None None None None None None None None RAB24|0.237109181|32.69%,MXD3|0.074275902|56.47%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 5 rs542898391,rs747127713,rs574673454
dbSNP Clinvar
177054649 100.19 ATT A,AT . 1/2 61 None None None 0.98822 0.98820 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 6 rs78628853,rs398084716
dbSNP Clinvar
4020540 623.19 AT ATT,A . 1/2 68 None None None 0.41094 0.41090 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 6 rs879001549
dbSNP Clinvar
42626564 235.19 TAA T,TA . 1/2 42 None None None None None None None None None UBR2|0.353289156|23.87%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 6 rs371146950
dbSNP Clinvar
56296416 280.19 TAAA T,TAA . 1/2 14 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 6 rs878998402,rs775601896
dbSNP Clinvar
90076244 224.19 TAA T,TA . 1/2 22 None None None None None None None None None RRAGD|0.35050589|24.06%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 6 rs769666950
dbSNP Clinvar
109954065 753.19 CATAG C,... . 1/2 26 None None None None None None None None None AK9|0.032678932|68.3%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 6 . 138744952 232.19 CAAA CA,C . 1/2 29 None None None None None None None None None NHSL1|0.130769163|45.78%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 6 rs750460343
dbSNP Clinvar
154762376 440.19 CAAA CA,C . 1/2 36 None None None None None None None None None CNKSR3|0.086255211|53.9%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 6 . 158098376 1122.19 CT CTT,C . 1/2 56 None None None None None None None None None ZDHHC14|0.274873956|29.53%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 6 rs3056748
dbSNP Clinvar
158098983 566.19 A AG... . 1/2 38 None None None 0.66094 None None None None None None ZDHHC14|0.274873956|29.53%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 7 rs6971387
dbSNP Clinvar
1535632 265.29 C G,T . 1/2 11 None None None 0.61142 0.61140 None None None None None None INTS1|0.091590581|52.91%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 7 rs544389785
dbSNP Clinvar
1543476 34043.19 TC... TC... . 1/2 91 None None None 0.00619 0.00619 None None None None None None INTS1|0.091590581|52.91%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 7 rs66991912,rs57306853
dbSNP Clinvar
1888683 2259.19 TA... TAC,T . 1/2 95 None None None None None None None None None MAD1L1|0.134111219|45.25%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 7 rs759381507,rs869042881
dbSNP Clinvar
48684185 183.19 CTTT CT,C . 1/2 19 None None None None None None None None None ABCA13|0.04721773|63.52%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 7 rs545897506,rs57668352,rs397774751
dbSNP Clinvar
98992321 252.19 G GA... . 1/2 45 None None None 0.31390 0.31390 None None None None None None ARPC1B|0.143899892|43.88%,PDAP1|0.196503667|37.11%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 7 rs574036533,rs10673432,rs57938060
dbSNP Clinvar
103251983 199.19 A AT... . 1/2 18 None None None 0.00040 0.30690 None None None None None None RELN|0.98955323|1.1%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 7 rs145777348
dbSNP Clinvar
128498630 970.19 TA... TA... . 1/2 31 None None None 0.08906 0.08906 None None None None None None FLNC|0.38745066|21.56%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 7 rs113814135,rs386411270,rs59644748
dbSNP Clinvar
128768048 308.19 C CA... . 1/2 35 None None None None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 7 rs34409527,rs571591963,rs397812884
dbSNP Clinvar
129680994 527.19 A AT... . 1/2 33 None None None 0.53450 None None None None None None ZC3HC1|0.165651654|40.84%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 7 rs146877444,rs772664362,rs57842029
dbSNP Clinvar
129963735 939.19 TT... T,... . 1/2 38 None None None None None None None None None CPA4|0.082972512|54.59%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 7 rs144874127
dbSNP Clinvar
155256690 879.19 AACAC AA... . 1/2 46 None None None None None None None None None EN2|0.358503209|23.56%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 rs770790743
dbSNP Clinvar
23536560 1009.19 CTTTT C,CT . 1/2 49 None None None None None None None None None NKX3-1|0.048286219|63.2%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 rs756090774
dbSNP Clinvar
38245598 1178.19 CTT C,CT . 1/2 113 None None None None None None None None None LETM2|0.078022846|55.66%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 rs373559742,rs567189585,rs879938670
dbSNP Clinvar
38845644 1046.19 T TA... . 1/2 61 None None None 0.16470 None None None None None None HTRA4|0.040089057|65.75%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 rs4733964
dbSNP Clinvar
38847959 1406.29 G A,T . 1/2 51 None None None 0.02097 0.02097 None None None None None None TM2D2|0.120599285|47.36%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 rs756310690,rs67116979
dbSNP Clinvar
39780922 619.19 CAA C,CA . 1/2 50 None None None None None None None None None IDO1|0.022671892|72.86%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 rs33981001
dbSNP Clinvar
41512648 1623.19 GGT G,... . 1/2 59 None None None 0.46346 0.46350 None None None None None None ANK1|0.956309863|2.07%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 rs33942423,rs66472341,rs71942199
dbSNP Clinvar
59514105 472.19 G GA... . 1/2 44 None None None None None None None None None NSMAF|0.177836525|39.33%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 rs55760931,rs555964686,rs764912681,rs796968769
dbSNP Clinvar
95718131 776.19 CTTT CT,C . 1/2 41 None None None 0.66314 0.66310 None None None None None None ESRP1|0.458423796|17.77%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 rs34960210
dbSNP Clinvar
96047806 771.19 T TA... . 1/2 64 None None None 0.00160 0.63760 None None None None None None NDUFAF6|0.298417823|27.76%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 . 110655376 1158.19 GC... G,GCA . 1/2 47 None None None None None None None None None SYBU|0.139910581|44.41%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 8 rs150177556
dbSNP Clinvar
113254071 1015.19 GCGCA G,... . 1/2 34 None None None None None None None None None CSMD3|0.744731001|7.23%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 . 37800406 192.19 GAAA G,GAA . 1/2 34 None None None None None None None None None EXOSC3|0.277073814|29.34%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs144228410,rs759706274
dbSNP Clinvar
91653257 340.19 TAAA T,TAA . 1/2 32 None None None None None None None None None SHC3|0.097881186|51.55%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs59161086,rs386415615,rs386415616,rs56314221
dbSNP Clinvar
101832263 586.19 G GT... . 1/2 26 None None None 0.01058 0.54270 None None None None None None COL15A1|0.059345569|60.08%