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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KALRN_chr3_124028369_124731325 | 124495996 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02165.hp1 HG02273.hp1 HG02615.hp1 others(12): Show |
a0001a0003 | a0001c0004a0001c0005a0001c0007others(8): Show | a0001c0004t0030a0001c0005t0001a0001c0007t0002others(9): Show | a0001c0004t0030g0052a0001c0005t0001g0023a0001c0005t0001g0034others(12): Show | 15 | 116 | 0.1293 | -22 | c.483 others(39): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 32/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KANK1_chr9_499695_751103 | 598630 | TTTTTTTT others(15): Show |
T | intron_variant | MODIFIER | NA18964.hp1 | a0013 | a0013c0010 | a0013c0010t0004 | a0013c0010t0004g0135 | 1 | 254 | 0.0039 | -22 | c.-83 others(41): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8328387 | CCACACAC others(15): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0004 | a0004c0033 | a0004c0033t0004 | a0004c0033t0004g0076 | 1 | 406 | 0.0025 | -22 | c.193 others(41): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210069789 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01981.hp1 HG02056.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0140a0001c0001t0001g0145a0001c0001t0001g0147others(3): Show | 6 | 284 | 0.0211 | -22 | c.175 others(41): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 6/14 | chr2 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210079678 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 284 | 0.0035 | -22 | c.155 others(41): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46058733 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG03831.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0046 | 2 | 321 | 0.0062 | -22 | c.184 others(41): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46058737 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0228a0001c0001t0006g0229a0001c0001t0006g0230others(2): Show | 5 | 321 | 0.0156 | -22 | c.184 others(41): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46058741 | ACACTCTC others(15): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0245 | 1 | 321 | 0.0031 | -22 | c.184 others(41): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46058743 | ACTCTCTC others(15): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 321 | 0.0031 | -22 | c.184 others(41): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46125035 | GGGAGGGA others(15): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG02922.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0208a0001c0001t0004g0209a0001c0001t0004g0210others(6): Show | 9 | 321 | 0.0280 | -22 | c.129 others(43): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL2_chr12_48648211_48687238 | 48649309 | GTATCACC others(15): Show |
G | downstream_gene_variant | MODIFIER | NA18955.hp2 NA18973.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0059a0002c0001t0001g0120 | 2 | 322 | 0.0062 | -22 | c.*47 others(33): Show |
KANSL2 | ENSG00000139620.13 | transcript | ENST00000420613.7 | protein_coding | 3901 | chr12 | TogoVar | ||||||
KASH5_chr19_49383249_49422990 | 49386767 | GGAGGGGA others(15): Show |
G | upstream_gene_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0140 | 1 | 354 | 0.0028 | -22 | c.-16 others(33): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 1481 | chr19 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106961 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0181a0001c0001t0001g0182others(2): Show | 5 | 374 | 0.0134 | -22 | c.852 others(39): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20106997 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 374 | 0.0027 | -22 | c.852 others(39): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20107005 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 374 | 0.0027 | -22 | c.852 others(39): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT6A_chr8_41924479_42056987 | 41946493 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0114 | 1 | 374 | 0.0027 | -22 | c.199 others(37): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 12/16 | chr8 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74830766 | ATATTTTT others(15): Show |
A | intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 236 | 0.0042 | -22 | c.-32 others(41): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KATNAL1_chr13_30197630_30312551 | 30205925 | AGTGTGTG others(15): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0208 | a0001c0001t0208g0306 | 1 | 386 | 0.0026 | -22 | c.*25 others(33): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 11/11 | 2593 | chr13 | TogoVar | |||||
KATNB1_chr16_57730770_57762244 | 57753571 | GCTGGGGG others(15): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 | 1 | 402 | 0.0025 | -22 | c.117 others(37): Show |
KATNB1 | ENSG00000140854.13 | transcript | ENST00000379661.8 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KATNBL1_chr15_34135674_34215096 | 34181705 | TATATATG others(15): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG03579.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0027a0001c0001t0002g0028a0001c0001t0014g0342 | 3 | 344 | 0.0087 | -22 | c.-14 others(41): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27616887 | TAAAAAAA others(15): Show |
T | intron_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0140 | 1 | 152 | 0.0066 | -22 | c.64- others(37): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KATNIP_chr16_27545144_27785344 | 27655177 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0069 | 1 | 152 | 0.0066 | -22 | c.540 others(39): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KATNIP_chr16_27545144_27785344 | 27713809 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 152 | 0.0066 | -22 | c.160 others(41): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14655143 | TGTGAACA others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp2 HG01167.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(6): Show | a0001c0001t0001g0086a0001c0001t0009g0115a0001c0001t0011g0118others(9): Show | 12 | 146 | 0.0822 | -22 | c.226 others(41): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14681647 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0123 | 1 | 146 | 0.0069 | -22 | c.226 others(41): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14681651 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0033 | 1 | 146 | 0.0069 | -22 | c.226 others(41): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14918695 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG03492.hp2 NA19056.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0012a0002c0004t0001 | a0002c0002t0012g0099a0002c0004t0001g0089 | 2 | 146 | 0.0137 | -22 | c.227 others(41): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14918697 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00642.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(5): Show | a0001c0001t0001g0068a0001c0001t0003g0136a0001c0001t0019g0029others(7): Show | 10 | 146 | 0.0685 | -22 | c.227 others(41): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14918699 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG02647.hp1 |
a0001a0005 | a0001c0001a0005c0016 | a0001c0001t0025a0005c0016t0002 | a0001c0001t0025g0093a0005c0016t0002g0022 | 2 | 146 | 0.0137 | -22 | c.227 others(41): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14985283 | AAGGTGGG others(15): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG02109.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0046a0001c0001t0002g0090a0001c0001t0002g0145others(13): Show | 16 | 146 | 0.1096 | -22 | c.418 others(41): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 15050159 | GGAATAGA others(15): Show |
G | intron_variant | MODIFIER | HG01358.hp2 NA19005.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0006 | a0002c0002t0001g0071a0002c0006t0006g0036 | 2 | 146 | 0.0137 | -22 | c.727 others(39): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | chr1 | TogoVar | ||||||
KBTBD4_chr11_47567197_47583970 | 47579984 | GACACACA others(15): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(110): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0010 | a0001c0001t0001a0001c0005t0001a0005c0010t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0014others(19): Show | 113 | 414 | 0.2730 | -22 | c.-10 others(33): Show |
KBTBD4 | ENSG00000123444.14 | transcript | ENST00000430070.7 | protein_coding | 1015 | chr11 | TogoVar | ||||||
KBTBD6_chr13_41122569_41137802 | 41128695 | CATAGCTG others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0000 | 1 | 360 | 0.0028 | -22 | c.*17 others(33): Show |
KBTBD6 | ENSG00000165572.8 | transcript | ENST00000379485.2 | protein_coding | 1/1 | 1770 | chr13 | TogoVar | |||||
KCMF1_chr2_84966161_85064472 | 84974677 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0261 | 1 | 274 | 0.0037 | -22 | c.16+ others(37): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNB2_chr8_72532225_72943349 | 72561713 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0125 | 1 | 164 | 0.0061 | -22 | c.-93 others(39): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNB2_chr8_72532225_72943349 | 72597001 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00741.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0104others(28): Show | 31 | 164 | 0.1890 | -22 | c.579 others(41): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNB2_chr8_72532225_72943349 | 72850199 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0116 | 1 | 164 | 0.0061 | -22 | c.580 others(41): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNC2_chr12_75035078_75214839 | 75181916 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 316 | 0.0032 | -22 | c.687 others(41): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75201277 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0001g0095a0001c0001t0001g0098a0001c0001t0001g0099others(5): Show | 8 | 316 | 0.0253 | -22 | c.687 others(39): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120397991 | GTGTGTAT others(15): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0063a0001c0002t0001g0064a0001c0002t0008g0062 | 3 | 80 | 0.0375 | -22 | c.111 others(45): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCND2_chr7_120268175_120755337 | 120397993 | GTGTATAT others(15): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0061a0001c0001t0007g0038a0001c0001t0007g0039others(2): Show | 5 | 80 | 0.0625 | -22 | c.111 others(45): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79817231 | CACACACC others(15): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 312 | 0.0032 | -22 | c.-11 others(43): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79886872 | AACATAGG others(15): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 312 | 0.0032 | -22 | c.625 others(41): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79886929 | AACATAGG others(15): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 312 | 0.0032 | -22 | c.625 others(41): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNH1_chr1_210673314_211139148 | 210679939 | TAATGCAA others(15): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0151 | 1 | 164 | 0.0061 | -22 | c.*33 others(33): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 11/11 | 3320 | chr1 | TogoVar | |||||
KCNH1_chr1_210673314_211139148 | 210869484 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0046 | 1 | 164 | 0.0061 | -22 | c.146 others(43): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210922383 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(66): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0014others(66): Show | 69 | 164 | 0.4207 | -22 | c.103 others(41): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 6/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210935120 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0116 | 1 | 164 | 0.0061 | -22 | c.103 others(43): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 6/10 | chr1 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 211128581 | GGTCTGGC others(15): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0151 | 1 | 164 | 0.0061 | -22 | c.79+ others(37): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
KCNH7_chr2_162366407_162843767 | 162748917 | TTCCCTTT others(15): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02717.hp2 HG02970.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0045a0002c0002t0001g0043others(2): Show | 5 | 100 | 0.0500 | -22 | c.307 others(41): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar |