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FREQUENCIES

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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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+ Genes 2

Genes:
RBM6, TNRC18,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 214
Number of Genes: 2

Export to: CSV

RBM6
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 combined sample_57.variant20 3 rs751626525
dbSNP Clinvar 		50098993 419.42 CTTTT CT... PASS 0/4 30 None None None None None None None None None RBM6|0.375632091|22.35%

TNRC18
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 combined sample_57.variant20 7 rs757395088
dbSNP Clinvar 		5429989 183.36 CAAAA CA... PASS 0/4 12 None None None None None None None None None TNRC18|0.053867756|61.52%
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 combined sample_57.variant20 2 . 11752319 191.51 CA CA... PASS 0/4 11 None None None None None None None None None GREB1|0.073635422|56.6%
View combined sample_57.variant20 2 rs10639159,rs56312031
dbSNP Clinvar 		11781593 501.12 G GG... PASS 0/4 13 None None None 0.39340 None None None None None None GREB1|0.073635422|56.6%
View combined sample_57.variant20 2 rs879010051
dbSNP Clinvar 		176959113 248.15 GCACA GC... PASS 0/4 27 None None None None None None None None None HOXD13|0.936177608|2.62%
View combined sample_57.variant20 2 rs386355527
dbSNP Clinvar 		200792031 344.27 TAA T,... PASS 0/4 23 None None None None None None None None None C2orf69|0.187222475|38.15%
View combined sample_57.variant20 3 rs879143397
dbSNP Clinvar 		38593128 56.9 TG TG... PASS 0/4 34 None None None None None None None None None SCN5A|0.505326843|15.55%
View combined sample_57.variant20 5 . 132089648 132.55 GT... GT... PASS 0/4 20 None None None None None None None None None CCNI2|0.003857723|87.22%,SEPT8|0.217360216|34.67%
View combined sample_57.variant20 3 rs796359094
dbSNP Clinvar 		142094816 719.18 GCA GC... PASS 0/4 41 None None None None None None None None None XRN1|0.362544354|23.25%
View combined sample_57.variant20 4 . 41960717 33.21 CTTT CT... PASS 0/4 16 None None None None None None None None None TMEM33|0.510560158|15.36%
View combined sample_57.variant20 4 rs777513703
dbSNP Clinvar 		100137292 166.3 ATTT AT... PASS 0/4 19 None None None None None None None None None ADH6|0.003690924|87.44%
View combined sample_57.variant20 4 . 186283991 61.04 CTT CT... PASS 0/4 12 None None None None None None None None None SNX25|0.217218036|34.69%
View combined sample_57.variant20 5 . 96143890 221.15 CG... CG... PASS 0/4 15 None None None None None None None None None None
View combined sample_57.variant20 6 rs371164544
dbSNP Clinvar 		32795504 336.06 G GT... PASS 0/4 28 None None None None None None None None None TAP2|0.028431787|70.24%
View combined sample_57.variant20 6 rs112641364
dbSNP Clinvar 		138820271 191.57 GACAC GA... PASS 0/4 21 None None None 0.20887 0.20890 None None None None None None NHSL1|0.130769163|45.78%
View combined sample_57.variant20 6 rs74588258
dbSNP Clinvar 		160199454 1432.09 TT... TA... PASS 0/4 61 None None None None None None None None None ACAT2|0.090493467|53.12%
View combined sample_57.variant20 7 rs780401264
dbSNP Clinvar 		43665352 622.22 CAGAG CA... PASS 0/4 44 None None None None None None None None None STK17A|0.045556394|64.03%,COA1|0.003135532|88.41%
View combined sample_57.variant20 7 rs200891670
dbSNP Clinvar 		100172255 348.37 G GC... PASS 0/4 27 None None None 0.00639 None None None None None None LRCH4|0.163537874|41.08%
View combined sample_57.variant20 7 . 100231321 40.28 CT... CT... PASS 0/4 5 None None None None None None None None None TFR2|0.128216493|46.16%
View combined sample_57.variant20 7 . 131177493 756.42 CAA CA... PASS 0/4 52 None None None None None None None None None MKLN1|0.84762544|4.7%
View combined sample_57.variant20 8 rs60062081
dbSNP Clinvar 		22477930 237.73 GTTT GT... PASS 0/4 24 SPLICE_SITE_REGION LOW None None None None None None None CCAR2|0.363674682|23.18%
View combined sample_57.variant20 8 . 103664698 63.74 ATTT A,... PASS 0/4 7 None None None None None None None None None KLF10|0.950136718|2.26%
View combined sample_57.variant20 11 . 83984349 113.13 GAAAA GA... PASS 0/4 13 None None None None None None None None None DLG2|0.9849262|1.29%
View combined sample_57.variant20 10 rs878933728
dbSNP Clinvar 		11047218 266.45 GG... GG... PASS 0/4 28 None None None None None None None None None None
View combined sample_57.variant20 10 rs529970088
dbSNP Clinvar 		12872963 1149.11 C CA... PASS 0/4 23 None None None 0.54453 0.54450 None None None None None None CAMK1D|0.393461852|21.18%
View combined sample_57.variant20 10 rs771611404
dbSNP Clinvar 		65382465 705.82 CT... C,... PASS 0/4 21 None None None None None None None None None REEP3|0.347788312|24.3%
View combined sample_57.variant20 10 rs879122271
dbSNP Clinvar 		98718663 54.86 TAAA TA... PASS 0/4 16 None None None None None None None None None LCOR|0.915854726|3.09%
View combined sample_57.variant20 11 . 134018850 1118.81 AA... AA... PASS 0/4 50 None None None None None None None None None JAM3|0.122059358|47.11%
View combined sample_57.variant20 12 rs796273827,rs539912809
dbSNP Clinvar 		7459443 37.41 CAA CA... PASS 0/4 9 None None None None None None None None None ACSM4|0.022577905|72.89%
View combined sample_57.variant20 14 . 92433479 690.21 CT... CT... PASS 0/4 65 None None None None None None None None None TRIP11|0.069514825|57.58%
View combined sample_57.variant20 12 rs376106399,rs386376876,rs377721998
dbSNP Clinvar 		69119617 264.8 G GT... PASS 0/4 26 None None None 0.40994 0.40990 None None None None None None NUP107|0.588153904|12.21%
View combined sample_57.variant20 12 . 69161298 81.27 GAAAA GA... PASS 0/4 11 None None None None None None None None None SLC35E3|0.025991204|71.33%
View combined sample_57.variant20 12 . 122738097 145.99 CAA C,... PASS 0/4 17 None None None None None None None None None VPS33A|0.127217914|46.3%
View combined sample_57.variant20 12 rs766543371
dbSNP Clinvar 		122760929 514.3 CCA CC... PASS 0/4 91 None None None None None None None None None CLIP1|0.65719402|9.83%
View combined sample_57.variant20 13 rs35079195
dbSNP Clinvar 		47327219 1996.75 TCA TC... PASS 0/4 54 None None None None None None None None None None
View combined sample_57.variant20 14 rs36025922,rs562499782,rs869071663,rs397852526
dbSNP Clinvar 		34263034 1247.29 TAAA T,... PASS 0/4 54 None None None 0.48940 None None None None None None NPAS3|0.999985495|0.09%
View combined sample_57.variant20 14 rs138759765
dbSNP Clinvar 		62229138 734.93 A AG... PASS 0/4 65 None None None 0.18683 None None None None None None SNAPC1|0.159482045|41.64%
View combined sample_57.variant20 15 rs34023014
dbSNP Clinvar 		53807283 141.5 T TA... PASS 0/4 10 None None None None None None None None None WDR72|0.178297941|39.26%
View combined sample_57.variant20 16 rs758302424
dbSNP Clinvar 		31985552 418.68 CA... CA... PASS 0/4 19 None None None None None None None None None None
View combined sample_57.variant20 16 . 16228482 111.27 CT... C,... PASS 0/4 10 None None None None None None None None None ABCC1|0.091540799|52.94%
View combined sample_57.variant20 17 . 65073835 259.26 CA CA... PASS 0/4 53 None None None None None None None None None HELZ|0.346525228|24.38%
View combined sample_57.variant20 17 . 78440926 30.96 CTTT CT... PASS 0/4 90 None None None None None None None None None None
View combined sample_57.variant20 17 . 79408694 137.0 CAAA C,... PASS 0/4 16 None None None None None None None None None None
View combined sample_57.variant20 18 . 43844698 220.99 CT CT... PASS 0/4 36 None None None None None None None None None C18orf25|0.503978181|15.65%
View combined sample_57.variant20 18 . 67753930 185.42 TA... TA... PASS 0/4 6 None None None None None None None None None RTTN|0.045017499|64.2%
View combined sample_57.variant20 19 rs113334992
dbSNP Clinvar 		8951704 181.85 AT AT... PASS 0/4 7 None None None 0.16793 0.16790 None None None None None None MBD3L1|0.00170478|91.86%
View combined sample_57.variant20 19 . 45683493 100.96 ATTT AT... PASS 0/4 7 None None None None None None None None None MARK4|0.139462613|44.48%,BLOC1S3|0.011503495|79.6%
View combined sample_57.variant20 20 rs756357312
dbSNP Clinvar 		9453901 277.22 ATTT AT... PASS 0/4 23 None None None None None None None None None PLCB4|0.73918825|7.39%
View combined sample_57.variant20 21 . 44438157 352.5 CA... CA... PASS 0/4 10 None None None None None None None None None PKNOX1|0.097034249|51.72%
View combined sample_57.variant20 21 . 45643596 36.35 ATT AT... PASS 0/4 14 None None None None None None None None None ICOSLG|0.0015876|92.37%
View combined sample_57.variant20 1 . 36893790 216.67 CA... CA... PASS 0/4 25 None None None None None None None None None OSCP1|0.15998332|41.55%
View combined sample_57.variant20 X . 70774984 625.53 TT... TT... PASS 0/4 31 None None None None None None None None None OGT|0.924475508|2.87%
View combined sample_57.variant20 2 . 11679921 40.58 AT... AT... PASS 0/4 9 None None None None None None None None None GREB1|0.073635422|56.6%
View combined sample_57.variant20 1 . 108024677 1320.38 CA... C,... PASS 0/4 31 None None None None None None None None None NTNG1|0.896984536|3.49%
View combined sample_57.variant20 1 rs796760637
dbSNP Clinvar 		81970883 124.73 CC... CC... PASS 0/4 8 None None None None None None None None None ADGRL2|0.997912339|0.57%
View combined sample_57.variant20 1 . 109474250 1116.05 TA TA... PASS 0/4 173 None None None None None None None None None AKNAD1|0.003173142|88.35%,GPSM2|0.393757706|21.15%,CLCC1|0.029324126|69.7%
View combined sample_57.variant20 1 rs879156877
dbSNP Clinvar 		109740310 64.18 AGT AG... PASS 0/4 19 None None None None None None None None None KIAA1324|0.336413971|25.05%
View combined sample_57.variant20 1 . 151668937 68.86 TT... TT... PASS 0/4 9 None None None None None None None None None SNX27|0.396221602|21%
View combined sample_57.variant20 1 . 156180847 76.8 TT... TT... PASS 0/4 15 None None None None None None None None None SLC25A44|0.214124882|35.12%
View combined sample_57.variant20 1 . 161011051 130.32 CAAA CA... PASS 0/4 22 None None None None None None None None None USF1|0.834706579|4.99%
View combined sample_57.variant20 1 . 179198767 1617.13 AC... AC... PASS 0/4 102 None None None None None None None None None ABL2|0.343693287|24.57%
View combined sample_57.variant20 1 rs200364670
dbSNP Clinvar 		183100307 83.67 CA CA... PASS 0/4 8 None None None None None None None None None LAMC1|0.212040641|35.36%
View combined sample_57.variant20 1 . 183218817 376.05 CG... CG... PASS 0/4 7 None None None None None None None None None NMNAT2|0.331927563|25.33%
View combined sample_57.variant20 2 rs781477243
dbSNP Clinvar 		122227869 122.5 CT... CT... PASS 0/4 4 None None None None None None None None None CLASP1|0.440226121|18.65%
View combined sample_57.variant20 2 . 128941511 32.57 TG... TG... PASS 0/4 14 None None None None None None None None None UGGT1|0.159062304|41.71%
View combined sample_57.variant20 2 . 220022713 203.2 TC... TC... PASS 0/4 25 None None None None None None None None None NHEJ1|0.125381052|46.57%,SLC23A3|0.053610275|61.58%
View combined sample_57.variant20 2 rs768113520
dbSNP Clinvar 		220197929 96.57 CTTTT CT... PASS 0/4 95 None None None None None None None None None None
View combined sample_57.variant20 2 rs575215881,rs59571689
dbSNP Clinvar 		233408190 264.2 AC A,... PASS 0/4 47 None None None 0.07069 0.07069 None None None None None None CHRNG|0.119728305|47.49%
View combined sample_57.variant20 2 rs67252740,rs577957548
dbSNP Clinvar 		233744130 2886.4 GCCC G,... PASS 0/4 64 None None None None None None None None None NGEF|0.164939801|40.94%
View combined sample_57.variant20 3 rs3076826
dbSNP Clinvar 		42799554 319.26 TA... TA... PASS 0/4 33 None None None None None None None None None CCDC13|0.02751687|70.65%,HIGD1A|0.115082095|48.3%
View combined sample_57.variant20 3 rs67293153
dbSNP Clinvar 		52846986 66.8 AT... AT... PASS 0/4 5 None None None 0.07548 0.07548 None None None None None None None
View combined sample_57.variant20 3 . 160154585 100.61 CA... CA... PASS 0/4 18 None None None None None None None None None TRIM59|0.32193428|26.01%
View combined sample_57.variant20 4 rs376870996
dbSNP Clinvar 		88532182 1318.5 AGTGT AG... PASS 0/4 58 None None None None None None None None None DSPP|0.054175637|61.42%
View combined sample_57.variant20 4 rs536091319
dbSNP Clinvar 		88533163 583.33 TT... TT... PASS 0/4 19 None None None 0.00200 0.00200 None None None None None None DSPP|0.054175637|61.42%
View combined sample_57.variant20 4 rs143624715
dbSNP Clinvar 		96079624 790.65 CTTAT C,... PASS 0/4 39 None None None 0.10503 0.35020 None None None None None None None
View combined sample_57.variant20 4 rs57518169
dbSNP Clinvar 		122053368 76.37 AA... AA... PASS 0/4 63 None None None None None None None None None TNIP3|0.011682267|79.46%
View combined sample_57.variant20 4 . 129961055 356.38 GC... GC... PASS 0/4 26 None None None None None None None None None SCLT1|0.102346634|50.73%
View combined sample_57.variant20 5 rs760573627
dbSNP Clinvar 		17276742 189.88 GAA G,... PASS 0/4 14 None None None None None None None None None BASP1|0.077793054|55.71%
View combined sample_57.variant20 5 rs771183930
dbSNP Clinvar 		114938279 53.57 CT... CT... PASS 0/4 13 None None None None None None None None None TMED7-TICAM2|0.2791835|29.17%,TICAM2|0.025604369|71.5%
View combined sample_57.variant20 6 rs10642379,rs60248644
dbSNP Clinvar 		346429 2615.51 G GA... PASS 0/4 90 None None None 0.22070 None None None None None None None
View combined sample_57.variant20 5 . 134147749 142.59 CTTT C,... PASS 0/4 16 None None None None None None None None None DDX46|0.691660517|8.72%
View combined sample_57.variant20 5 . 136833955 234.61 CCACA CC... PASS 0/4 31 None None None None None None None None None SPOCK1|0.63191047|10.71%
View combined sample_57.variant20 5 rs72051298,rs570189255
dbSNP Clinvar 		153369624 646.68 TC... TC... PASS 0/4 18 None None None None None None None None None None
View combined sample_57.variant20 5 rs796990131,rs869233728
dbSNP Clinvar 		156820215 231.17 GAA GA... PASS 0/4 29 None None None None None None None None None CYFIP2|0.509393402|15.41%
View combined sample_57.variant20 5 rs757549815
dbSNP Clinvar 		156905298 888.4 CA... C,... PASS 0/4 8 None None None None None None None None None ADAM19|0.121857186|47.16%
View combined sample_57.variant20 6 . 27858720 93.51 CTTT CT... PASS 0/4 12 None None None None None None None None None HIST1H3J|0.076077628|56.06%
View combined sample_57.variant20 6 . 33377482 127.79 CT... CT... PASS 0/4 10 None None None None None None None None None KIFC1|0.074961966|56.3%
View combined sample_57.variant20 6 . 160560616 161.19 CTT CT... PASS 0/4 16 None None None None None None None None None SLC22A1|0.017246793|75.71%
View combined sample_57.variant20 6 . 106556396 196.65 CTTT CT... PASS 0/4 27 None None None None None None None None None PRDM1|0.584785722|12.37%
View combined sample_57.variant20 6 . 158613937 348.65 CAAA CA... PASS 0/4 45 None None None None None None None None None GTF2H5|0.265621138|30.21%
View combined sample_57.variant20 7 . 2409400 93.73 AT... AT... PASS 0/4 18 None None None None None None None None None EIF3B|0.173808173|39.81%
View combined sample_57.variant20 7 . 13949853 193.74 CTT CT... PASS 0/4 31 None None None None None None None None None ETV1|0.91874475|3.01%
View combined sample_57.variant20 7 . 14942837 226.41 AG... AG... PASS 0/4 9 None None None None None None None None None DGKB|0.872352017|4.16%
View combined sample_57.variant20 7 rs67533133
dbSNP Clinvar 		87904915 119.49 GGT G,... PASS 0/4 26 None None None 0.08586 0.08586 None None None None None None None
View combined sample_57.variant20 7 . 148504906 328.75 TA... TA... PASS 0/4 28 None None None None None None None None None EZH2|0.916729206|3.07%
View combined sample_57.variant20 8 . 37735226 120.61 ATTTT AT... PASS 0/4 21 None None None None None None None None None RAB11FIP1|0.015108163|77.08%
View combined sample_57.variant20 8 . 38239264 63.27 GC... GC... PASS 0/4 17 None None None None None None None None None WHSC1L1|0.701625331|8.45%
View combined sample_57.variant20 8 . 71075146 110.81 AT AT... PASS 0/4 11 None None None None None None None None None NCOA2|0.961655489|1.93%
View combined sample_57.variant20 8 . 72274390 302.04 CTTT C,... PASS 0/4 28 None None None None None None None None None EYA1|0.984326003|1.33%
View combined sample_57.variant20 9 . 87475806 269.74 GT... GT... PASS 0/4 18 None None None None None None None None None NTRK2|0.922283542|2.93%