| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SPDYE3_chr7_100302702_100327196 | 100310737 | ACAACAGA others(1383): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(13): Show |
a0002a0003a0009 | a0002c0005a0002c0006a0003c0012others(1): Show | a0002c0005t0001a0002c0006t0001a0003c0012t0001others(1): Show | a0002c0005t0001g0005a0002c0005t0001g0007a0002c0005t0001g0141others(3): Show | 16 | 344 | 0.0465 | -1390 | c.544 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100311134 | AAAAAAAG others(1383): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02896.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0168 | 1 | 344 | 0.0029 | -1390 | c.545 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100311877 | AGAGACGC others(1383): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02735.hp1 | a0002 | a0002c0019 | a0002c0019t0001 | a0002c0019t0001g0134 | 1 | 344 | 0.0029 | -1390 | c.763 others(13): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ACAP3_chr1_1287391_1312930 | 1288757 | CCGTGTCC others(1382): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0053 | 1 | 295 | 0.0034 | -1389 | c.*34 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3633 | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288757 | CCGTGTCC others(1382): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0034 | a0003c0034t0009 | a0003c0034t0009g0279 | 1 | 290 | 0.0035 | -1389 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DACT2_chr6_168301904_168324777 | 168316238 | CCAGCATC others(1381): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01074.hp2 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(7): Show | a0001c0001t0001g0033a0001c0001t0001g0047a0001c0001t0001g0048others(19): Show | 27 | 476 | 0.0567 | -1388 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| PARD3B_chr2_204540475_205625162 | 205263745 | TTCAAAAG others(1381): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0005 | 1 | 54 | 0.0185 | -1388 | c.218 others(21): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 16/22 | chr2 | TogoVar | ||||||
| SSC5D_chr19_55483436_55524099 | 55504989 | GTTTTAAG others(1381): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02723.hp2 HG03225.hp1 |
a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0171a0008c0012t0001g0173a0008c0012t0001g0177 | 3 | 412 | 0.0073 | -1388 | c.278 others(19): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TENM1_chrX_124370903_125209312 | 125101049 | AATCCAGG others(1381): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0055 | 1 | 140 | 0.0071 | -1388 | c.-65 others(19): Show |
TENM1 | ENSG00000009694.14 | transcript | ENST00000422452.4 | protein_coding | 3/34 | chrX | TogoVar | ||||||
| PIK3CB_chr3_138647698_138839928 | 138789397 | TGCAGTGA others(1380): Show |
T | intron_variant | MODIFIER | NA18994.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0172 | 2 | 206 | 0.0097 | -1387 | c.-17 others(17): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 2/23 | chr3 | TogoVar | ||||||
| SSC5D_chr19_55483436_55524099 | 55504989 | GTTTTAAG others(1380): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0176 | 1 | 412 | 0.0024 | -1387 | c.278 others(19): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ZNF407_chr18_74592870_75070671 | 74676697 | ATGCTGGG others(1380): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 92 | 0.0109 | -1387 | c.480 others(21): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| B3GALT4_chr6_33272123_33283825 | 33280891 | TGCTCCAT others(1379): Show |
T | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 363 | 0.0028 | -1386 | c.*23 others(11): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 2067 | chr6 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565692 | TCTGTCTG others(1379): Show |
T | intron_variant | MODIFIER | HG02129.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293a0001c0001t0002g0300 | 2 | 340 | 0.0059 | -1386 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686544 | GGGGCCCC others(1379): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0251 | 1 | 362 | 0.0028 | -1386 | c.981 others(15): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| SFI1_chr22_31491536_31623588 | 31591641 | CGGGGGGC others(1379): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG03139.hp1 others(5): Show |
a0003a0012a0025 | a0003c0003a0003c0033a0012c0012others(1): Show | a0003c0003t0001a0003c0033t0001a0012c0012t0001others(1): Show | a0003c0003t0001g0164a0003c0003t0001g0168a0003c0003t0001g0183others(5): Show | 8 | 322 | 0.0248 | -1386 | c.154 others(19): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100308896 | ATGGTTTG others(1379): Show |
A | exon_loss_variant others(4): Show |
HIGH | NA20752.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0151 | 1 | 344 | 0.0029 | -1386 | c.325 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100309536 | AGTGACAG others(1379): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01074.hp2 HG01168.hp1 HG01169.hp2 others(1): Show |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0017a0002c0008t0001g0073 | 4 | 344 | 0.0116 | -1386 | c.325 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| WDR46_chr6_33274108_33294239 | 33280891 | TGCTCCAT others(1379): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG03209.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0065 | 1 | 373 | 0.0027 | -1386 | c.111 others(14): Show |
p.Tyr others(13): Show |
WDR46 | ENSG00000227057.10 | transcript | ENST00000374617.9 | protein_coding | 11/15 | 1280/2070 | 1116/1833 | 372/610 | chr6 | TogoVar | ||
| DACT2_chr6_168301904_168324777 | 168316376 | TGTGTGTA others(1378): Show |
T | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 NA18952.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0009 | a0001c0001t0001a0002c0003t0003a0002c0009t0005 | a0001c0001t0001g0307a0002c0003t0003g0040a0002c0009t0005g0308 | 4 | 476 | 0.0084 | -1385 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316488 | CGTGTGTA others(1378): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp2 others(33): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0050a0001c0001t0001g0060others(20): Show | 36 | 476 | 0.0756 | -1385 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| JMJD1C_chr10_63162225_63470977 | 63270250 | TCTGCCTC others(1378): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0156 | 1 | 310 | 0.0032 | -1385 | c.334 others(17): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316375 | ATGTGTGT others(1376): Show |
A | intron_variant | MODIFIER | HG02155.hp1 HG02615.hp2 HG03540.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0004 | a0001c0001t0002g0155a0005c0007t0004g0131a0005c0007t0004g0164 | 3 | 476 | 0.0063 | -1383 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316487 | ACGTGTGT others(1376): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02647.hp1 HG03579.hp2 others(2): Show |
a0002a0003a0005 | a0002c0002a0003c0004a0005c0007 | a0002c0002t0005a0002c0002t0012a0003c0004t0004others(1): Show | a0002c0002t0005g0302a0002c0002t0012g0086a0003c0004t0004g0037others(1): Show | 5 | 476 | 0.0105 | -1383 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| SNX1_chr15_64090982_64149231 | 64147848 | GGCACCTG others(1376): Show |
G | downstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0136 | 1 | 270 | 0.0037 | -1383 | c.*10 others(13): Show |
SNX1 | ENSG00000028528.15 | transcript | ENST00000559844.6 | protein_coding | 3618 | chr15 | TogoVar | ||||||
| TMEM245_chr9_109010135_109124947 | 109041531 | TTGGCTCA others(1375): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0069 | a0001c0001t0040g0271a0001c0001t0040g0272a0001c0001t0069g0173 | 3 | 422 | 0.0071 | -1382 | c.212 others(19): Show |
TMEM245 | ENSG00000106771.13 | transcript | ENST00000374586.8 | protein_coding | 14/17 | chr9 | TogoVar | ||||||
| TRIP13_chr5_887884_923120 | 898470 | GTCAGTGT others(1375): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0213 | 1 | 402 | 0.0025 | -1382 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DCAF8L2_chrX_27585344_27754942 | 27696695 | GTTTTTCA others(1374): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp2 HG02723.hp1 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0017a0002c0002a0003c0032others(2): Show | a0001c0017t0001a0002c0002t0002a0003c0032t0001others(2): Show | a0001c0017t0001g0122a0002c0002t0002g0127a0003c0032t0001g0120others(2): Show | 5 | 262 | 0.0191 | -1381 | c.-14 others(21): Show |
DCAF8L2 | ENSG00000189186.11 | transcript | ENST00000451261.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CYP4F11_chr19_15907377_15939529 | 15932461 | CGGGGAGA others(1373): Show |
C | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0296 | 1 | 386 | 0.0026 | -1380 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932485 | GAGAGGAA others(1373): Show |
G | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0237 | 1 | 386 | 0.0026 | -1380 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932525 | GAGAAGAA others(1373): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0007 | a0004c0007t0031 | a0004c0007t0031g0201 | 1 | 386 | 0.0026 | -1380 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1398924 | ACCTCCTC others(1373): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -1380 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| KLLN_chr10_87854158_87868533 | 87858623 | GGAGACTC others(1372): Show |
G | splice_region_variant | LOW | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0000 | 1 | 430 | 0.0023 | -1379 | c.*19 others(11): Show |
KLLN | ENSG00000227268.5 | transcript | ENST00000445946.5 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48718471 | GACATGGG others(1372): Show |
G | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 258 | 0.0039 | -1379 | c.390 others(19): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CAMK1D_chr10_12344547_12840545 | 12663103 | GGCACATG others(1371): Show |
G | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0023 | 1 | 214 | 0.0047 | -1378 | c.225 others(17): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
| SLC41A3_chr3_126001357_126089124 | 126058949 | ACAGCTCT others(1370): Show |
A | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 370 | 0.0027 | -1377 | c.273 others(17): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
| COL28A1_chr7_7352875_7540873 | 7411916 | GAGACCAC others(1369): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0170 | 1 | 196 | 0.0051 | -1376 | c.213 others(19): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1013625 | AGACGGTG others(1369): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 40 | 0.0250 | -1376 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| KRTAP5-9_chr11_71543420_71554608 | 71552962 | AGGATGGT others(1369): Show |
A | downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 422 | 0.0024 | -1376 | c.*37 others(11): Show |
KRTAP5-9 | ENSG00000254997.4 | transcript | ENST00000528743.4 | protein_coding | 3355 | chr11 | TogoVar | ||||||
| LRRTM4_chr2_76742685_77527376 | 76873534 | ACAACATA others(1369): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 128 | 0.0078 | -1376 | c.155 others(23): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79920188 | TGGAGGAG others(1369): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0292 | 1 | 352 | 0.0028 | -1376 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| ZNF600_chr19_52759184_52791791 | 52783641 | GTGAGCCA others(1369): Show |
G | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0276 | 1 | 488 | 0.0021 | -1376 | c.-64 others(19): Show |
ZNF600 | ENSG00000189190.11 | transcript | ENST00000692063.1 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129088154 | GGGTGTCC others(1368): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01975.hp1 others(2): Show |
a0001 | a0001c0002a0001c0006a0001c0007 | a0001c0002t0004a0001c0006t0002a0001c0007t0004others(1): Show | a0001c0002t0004g0077a0001c0006t0002g0041a0001c0006t0002g0076others(2): Show | 5 | 94 | 0.0532 | -1375 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| CACNG7_chr19_53904278_53948950 | 53922309 | TCCCCAGG others(1367): Show |
T | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 364 | 0.0028 | -1374 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 402236 | CGTGTGGT others(1367): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00673.hp2 others(26): Show |
a0001 | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0023others(26): Show | 29 | 88 | 0.3296 | -1374 | c.115 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 9/36 | chr10 | TogoVar | ||||||
| SMAD9_chr13_36839831_36925238 | 36860362 | AGGATACG others(1367): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 358 | 0.0028 | -1374 | c.100 others(19): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 5/6 | chr13 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393329 | GGGCAGGT others(1367): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp1 |
a0001a0002 | a0001c0025a0002c0021 | a0001c0025t0055a0002c0021t0154 | a0001c0025t0055g0180a0002c0021t0154g0275 | 2 | 346 | 0.0058 | -1374 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| IFT56_chr7_139128778_139196986 | 139184792 | TGCCTGTA others(1366): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0146a0001c0001t0012g0147 | 2 | 330 | 0.0061 | -1373 | c.142 others(19): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ORM1_chr9_114318098_114331479 | 114319730 | GTGTGTGT others(1364): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00597.hp1 others(73): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0002c0002t0001a0003c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(10): Show | 76 | 464 | 0.1638 | -1371 | c.-34 others(11): Show |
ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 3367 | chr9 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1397661 | AGAGTCGT others(1363): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0028 | 1 | 40 | 0.0250 | -1370 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |