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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FGD3_chr9_92942523_93041233 | 93010609 | AACAGAGG others(62): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(201): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0046a0001c0001t0001g0050others(201): Show | 204 | 322 | 0.6335 | -69 | c.976 others(84): Show |
FGD3 | ENSG00000127084.19 | transcript | ENST00000375482.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FIRRM_chr1_169790040_169859080 | 169850980 | CTTTTTTT others(62): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01361.hp2 others(11): Show |
a0002 | a0002c0003a0002c0012 | a0002c0003t0005a0002c0012t0005 | a0002c0003t0005g0027a0002c0003t0005g0371a0002c0003t0005g0372others(11): Show | 14 | 420 | 0.0333 | -69 | c.224 others(86): Show |
FIRRM | ENSG00000000460.17 | transcript | ENST00000359326.9 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FOLH1_chr11_49140092_49213602 | 49168095 | TAGGAATC others(62): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02559.hp2 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0006 | a0003c0005t0006g0028a0003c0005t0006g0326a0003c0005t0006g0327 | 4 | 374 | 0.0107 | -69 | c.137 others(88): Show |
FOLH1 | ENSG00000086205.18 | transcript | ENST00000256999.7 | protein_coding | 12/18 | chr11 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361161 | ACTACCTC others(62): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0223 | 1 | 230 | 0.0044 | -69 | c.544 others(88): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361198 | GCACCACC others(62): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0006 | 1 | 230 | 0.0044 | -69 | c.544 others(88): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361537 | ACCACCTC others(62): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0171 | 1 | 230 | 0.0044 | -69 | c.544 others(88): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361719 | TACCTCCA others(62): Show |
T | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0102 | 1 | 230 | 0.0044 | -69 | c.544 others(88): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89362545 | TCCACCAC others(62): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0147 | 1 | 230 | 0.0044 | -69 | c.544 others(88): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FRK_chr6_115926149_116065891 | 115958634 | GGAAAGAA others(62): Show |
G | intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 274 | 0.0037 | -69 | c.800 others(86): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
FRK_chr6_115926149_116065891 | 115958696 | GAAAGAAA others(62): Show |
G | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0177 | 1 | 274 | 0.0037 | -69 | c.800 others(86): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
FSHR_chr2_48957157_49159515 | 49127742 | TTCTTCTT others(62): Show |
T | intron_variant | MODIFIER | HG02004.hp1 HG02015.hp1 HG02132.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035a0001c0001t0002g0057a0001c0001t0002g0063others(2): Show | 5 | 350 | 0.0143 | -69 | c.152 others(88): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
GABRA3_chrX_152161234_152456315 | 152251003 | TTGAGAAA others(62): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 204 | 0.0049 | -69 | c.551 others(86): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 5/9 | chrX | TogoVar | ||||||
GAK_chr4_844277_937316 | 884954 | ATGCGTTC others(62): Show |
A | intron_variant | MODIFIER | HG03490.hp2 NA19070.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0011a0002c0003t0001g0237 | 2 | 390 | 0.0051 | -69 | c.120 others(86): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 11/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 885006 | TAGGATGC others(62): Show |
T | intron_variant | MODIFIER | HG01257.hp1 NA19002.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0318a0002c0003t0001g0014 | 2 | 390 | 0.0051 | -69 | c.120 others(86): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 11/27 | chr4 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132203685 | CCACACCT others(62): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19002.hp2 | a0003 | a0003c0033 | a0003c0033t0001 | a0003c0033t0001g0114 | 1 | 183 | 0.0055 | -69 | c.107 others(81): Show |
p.Val others(5): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 7/11 | 1468/2933 | 1078/1812 | 360/603 | chr12 | TogoVar | ||
GALR1_chr18_77244848_77282900 | 77252854 | ACACCACC others(62): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0014 | 2 | 366 | 0.0055 | -69 | c.666 others(86): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77252920 | CCATCACC others(62): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0201 | 1 | 366 | 0.0027 | -69 | c.666 others(86): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GASK1A_chr3_42974311_43062715 | 43017289 | AGGCAGTG others(62): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0015 | a0015c0026 | a0015c0026t0011 | a0015c0026t0011g0311 | 1 | 342 | 0.0029 | -69 | c.4-1 others(84): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GBE1_chr3_81484703_81766645 | 81737307 | ATATTTAT others(62): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0007 | 1 | 304 | 0.0033 | -69 | c.143 others(88): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GCFC2_chr2_75657705_75715915 | 75705515 | GCTAAGGC others(62): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG01099.hp1 others(22): Show |
a0004a0011 | a0004c0003a0004c0013a0011c0012 | a0004c0003t0004a0004c0003t0021a0004c0013t0004others(1): Show | a0004c0003t0004g0003a0004c0003t0004g0025a0004c0003t0004g0058others(15): Show | 25 | 404 | 0.0619 | -69 | c.394 others(85): Show |
GCFC2 | ENSG00000005436.14 | transcript | ENST00000321027.8 | protein_coding | 2/16 | chr2 | TogoVar | ||||||
GDPD2_chrX_70418314_70438381 | 70433412 | TGCATAGA others(62): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 318 | 0.0031 | -69 | c.*32 others(78): Show |
GDPD2 | ENSG00000130055.14 | transcript | ENST00000374382.4 | protein_coding | 32 | chrX | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605974 | ATATCATA others(62): Show |
A | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0112 | 1 | 426 | 0.0024 | -69 | c.-42 others(88): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1905265 | GCCTCAAA others(62): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0085a0001c0001t0002g0040 | 2 | 166 | 0.0121 | -69 | c.771 others(88): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
GNG8_chr19_46628953_46641202 | 46635570 | GGGGGTGT others(62): Show |
G | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 438 | 0.0023 | -69 | c.-44 others(84): Show |
GNG8 | ENSG00000167414.5 | transcript | ENST00000693335.1 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
GP1BB_chr22_19718539_19729771 | 19725300 | GGTGAGGA others(62): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02257.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 18 | 410 | 0.0439 | -69 | c.*83 others(78): Show |
GP1BB | ENSG00000203618.6 | transcript | ENST00000366425.4 | protein_coding | 530 | chr22 | TogoVar | ||||||
GPC1_chr2_240430663_240473076 | 240453320 | CGCCCCGC others(62): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00738.hp1 others(14): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0007a0001c0006t0009 | a0001c0003t0007g0016a0001c0003t0007g0018a0001c0003t0007g0029others(9): Show | 17 | 398 | 0.0427 | -69 | c.167 others(86): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
GPC1_chr2_240430663_240473076 | 240453321 | GCCCCGCT others(62): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(80): Show |
a0001a0002a0009 | a0001c0002a0001c0003a0001c0004others(8): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0028others(17): Show | a0001c0002t0002g0002a0001c0002t0002g0026a0001c0002t0002g0034others(68): Show | 83 | 398 | 0.2085 | -69 | c.167 others(86): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPR26_chr10_123661355_123702399 | 123698864 | TGAATTTG others(62): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0024 | 1 | 412 | 0.0024 | -69 | c.*10 others(82): Show |
GPR26 | ENSG00000154478.4 | transcript | ENST00000284674.2 | protein_coding | 1466 | chr10 | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2960889 | TTATTATA others(62): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(107): Show |
a0001a0005a0010others(2): Show | a0001c0001a0005c0004a0005c0013others(3): Show | a0001c0001t0001a0001c0001t0010a0005c0004t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(104): Show | 110 | 268 | 0.4105 | -69 | c.-31 others(80): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2681 | chr4 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 610118 | CACAAGCA others(62): Show |
C | intron_variant | MODIFIER | NA18951.hp1 NA18952.hp2 NA18999.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0161a0001c0001t0001g0163a0001c0002t0003g0162 | 3 | 408 | 0.0074 | -69 | c.143 others(85): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HCN2_chr19_584881_622159 | 610150 | TGGGGGCG others(62): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG02451.hp2 HG02896.hp2 others(4): Show |
a0001a0002a0005 | a0001c0003a0001c0023a0001c0025others(3): Show | a0001c0003t0016a0001c0023t0001a0001c0025t0004others(3): Show | a0001c0003t0016g0384a0001c0023t0001g0370a0001c0025t0004g0059others(4): Show | 7 | 408 | 0.0172 | -69 | c.143 others(84): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HELZ2_chr20_63553086_63579239 | 63566502 | CGGCCACC others(62): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0080 | a0080c0114 | a0080c0114t0108 | a0080c0114t0108g0254 | 1 | 390 | 0.0026 | -69 | c.251 others(85): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 7/19 | chr20 | TogoVar | ||||||
HIGD1C_chr12_50947544_50975607 | 50970749 | TTTCAAAT others(62): Show |
T | downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 380 | 0.0026 | -69 | c.*24 others(78): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 143 | chr12 | TogoVar | ||||||
HPN_chr19_35036721_35071573 | 35045650 | CGCCTGTC others(62): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(38): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0030others(30): Show | 41 | 384 | 0.1068 | -69 | c.16+ others(84): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HPN_chr19_35036721_35071573 | 35045700 | CTGGGCCA others(62): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp2 HG02818.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0029a0001c0001t0001g0073a0001c0001t0001g0320others(10): Show | 13 | 384 | 0.0339 | -69 | c.16+ others(84): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1353160 | TCATCGTG others(62): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0065a0001c0001t0013g0091 | 2 | 115 | 0.0174 | -69 | c.616 others(84): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
INF2_chr14_104684618_104727535 | 104720753 | TCTCGTGT others(62): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0058 | a0001c0002t0058g0117 | 1 | 380 | 0.0026 | -69 | c.*20 others(80): Show |
INF2 | ENSG00000203485.14 | transcript | ENST00000392634.9 | protein_coding | 23/23 | 5519 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
INPP5D_chr2_233055342_233212903 | 233065583 | CTTTCTTT others(62): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 NA18951.hp2 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0005a0002c0002t0003 | a0001c0005t0005g0231a0002c0002t0003g0228a0002c0002t0003g0294 | 3 | 310 | 0.0097 | -69 | c.134 others(86): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INSIG2_chr2_118083471_118115997 | 118093353 | AAAAGCAA others(62): Show |
A | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 440 | 0.0023 | -69 | c.-13 others(88): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IRF4_chr6_386752_416443 | 396986 | TCTCCTGC others(62): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00639.hp1 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0058others(45): Show | 84 | 460 | 0.1826 | -69 | c.493 others(83): Show |
IRF4 | ENSG00000137265.16 | transcript | ENST00000380956.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ISG20_chr15_88634016_88661483 | 88635722 | CTTTTAAT others(62): Show |
C | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0077 | 1 | 436 | 0.0023 | -69 | c.-33 others(80): Show |
ISG20 | ENSG00000172183.16 | transcript | ENST00000306072.10 | protein_coding | 3293 | chr15 | TogoVar | ||||||
ISOC2_chr19_55447985_55466642 | 55450680 | GGGAACAG others(62): Show |
G | downstream_gene_variant | MODIFIER | NA18948.hp2 NA18976.hp1 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0015a0001c0001t0001g0150a0001c0001t0011g0147 | 4 | 380 | 0.0105 | -69 | c.*25 others(80): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2304 | chr19 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68397554 | ATATTATA others(62): Show |
A | intron_variant | MODIFIER | HG00597.hp1 homoSapiens_chm13v2.hp1 |
a0003a0020 | a0003c0004a0020c0054 | a0003c0004t0005a0020c0054t0001 | a0003c0004t0005g0108a0020c0054t0001g0067 | 2 | 242 | 0.0083 | -69 | c.164 others(86): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512116 | CCTTCTTT others(62): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02572.hp1 HG03209.hp2 others(2): Show |
a0002 | a0002c0002a0002c0010a0002c0011 | a0002c0002t0005a0002c0002t0010a0002c0002t0026others(2): Show | a0002c0002t0005g0050a0002c0002t0010g0087a0002c0002t0026g0052others(2): Show | 5 | 168 | 0.0298 | -69 | c.898 others(86): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132103407 | GGAGAGGA others(62): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0032 | a0001c0032t0037 | a0001c0032t0037g0124 | 1 | 158 | 0.0063 | -69 | c.-13 others(88): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KCNIP4_chr4_20723606_21953772 | 21714786 | ATTATTTT others(62): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 80 | 0.0125 | -69 | c.61+ others(88): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21715020 | TTTTATTT others(62): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0036a0001c0001t0007g0046 | 2 | 80 | 0.0250 | -69 | c.61+ others(88): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37757262 | ATGATTCC others(62): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0141 | a0001c0002t0141g0009 | 1 | 198 | 0.0051 | -69 | c.26- others(86): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
KHDC3L_chr6_73357658_73369171 | 73363661 | GGGAGGCC others(62): Show |
G | disruptive_inframe_deletion | MODERATE | NA18993.hp1 NA19091.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0001 | 2 | 434 | 0.0046 | -69 | c.473 others(76): Show |
p.Arg others(13): Show |
KHDC3L | ENSG00000203908.4 | transcript | ENST00000370367.4 | protein_coding | 3/3 | 545/1037 | 473/654 | 158/217 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
KHDC4_chr1_155908045_155939413 | 155936860 | GGGGTTTC others(62): Show |
G | upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 326 | 0.0031 | -69 | c.-25 others(80): Show |
KHDC4 | ENSG00000132680.11 | transcript | ENST00000368321.8 | protein_coding | 2448 | chr1 | TogoVar |