view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GTPBP3_chr19_17332553_17347731 | 17335812 | A | ATGCTTGT others(16): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 HG02647.hp1 HG02809.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0002 | a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0020 others(3): Show |
10 | 402 | 0.0249 | 23 | c.-18 others(34): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 1740 | chr19 | TogoVar | |||||||
GTPBP3_chr19_17332553_17347731 | 17335813 | C | TGCTTGTT others(16): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(99): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0002g0002 others(29): Show |
102 | 306 | 0.3333 | 23 | c.-17 others(33): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 1740 | chr19 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 317564 | G | GGGGTGGG others(16): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 131 | 0.0076 | 23 | c.350 others(38): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 1/9 | chrX | TogoVar | |||||||
GUCA1C_chr3_108902792_108958879 | 108939324 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03453.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215 a0002c0002t0001g0246 |
2 | 92 | 0.0217 | 23 | c.204 others(42): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
GUCA1C_chr3_108902792_108958879 | 108955590 | T | TAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219 | 1 | 64 | 0.0156 | 23 | c.-18 others(34): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1712 | chr3 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106698119 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02258.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0005a0001c0001t0009a0001c0005t0009others(2): Show | a0001c0001t0005g0027 a0001c0001t0009g0055 a0001c0001t0009g0056 others(3): Show |
6 | 104 | 0.0577 | 23 | c.199 others(44): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106944215 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0010 | 1 | 60 | 0.0167 | 23 | c.488 others(40): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | |||||||
GUCY2D_chr17_7997615_8025342 | 8006170 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | NA19002.hp1 NA19088.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 | 2 | 430 | 0.0047 | 23 | c.102 others(40): Show |
GUCY2D | ENSG00000132518.7 | transcript | ENST00000254854.5 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GYG1_chr3_148986540_149036775 | 149022498 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG01106.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0002g0007 a0001c0001t0002g0206 a0001c0001t0002g0212 others(18): Show |
25 | 123 | 0.2033 | 23 | c.609 others(40): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GYPE_chr4_143865864_143910559 | 143866541 | T | TTTCCACT others(16): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 2 | 396 | 0.0051 | 23 | c.*57 others(34): Show |
GYPE | ENSG00000197465.14 | transcript | ENST00000358615.9 | protein_coding | 4322 | chr4 | TogoVar | |||||||
GZMK_chr5_55019256_55039570 | 55022347 | A | ACACACAC others(16): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG02135.hp2 NA18991.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0004g0095 others(1): Show |
5 | 456 | 0.0110 | 23 | c.-19 others(34): Show |
GZMK | ENSG00000113088.6 | transcript | ENST00000231009.3 | protein_coding | 1908 | chr5 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 545099 | A | ATCCCTCC others(16): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0164 |
2 | 354 | 0.0056 | 23 | c.55+ others(36): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GZMM_chr19_539053_554922 | 545099 | A | ATCCCTCC others(16): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02896.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0051 a0001c0001t0001g0095 |
5 | 357 | 0.0140 | 23 | c.55+ others(36): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
H2AC18_chr1_149837218_149847750 | 149838427 | C | CACACACA others(16): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 318 | 0.0031 | 23 | c.*38 others(34): Show |
H2AC18 | ENSG00000288825.1 | transcript | ENST00000369159.3 | protein_coding | 3790 | chr1 | TogoVar | |||||||
H3-3B_chr17_75771434_75784779 | 75782239 | A | ATTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | NA18981.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0003g0006 |
2 | 150 | 0.0133 | 23 | c.-26 others(34): Show |
H3-3B | ENSG00000132475.10 | transcript | ENST00000254810.8 | protein_coding | 2461 | chr17 | TogoVar | |||||||
H3-3B_chr17_75771434_75784779 | 75784188 | T | TGGCAAAG others(16): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 426 | 0.0023 | 23 | c.-45 others(34): Show |
H3-3B | ENSG00000132475.10 | transcript | ENST00000254810.8 | protein_coding | 4410 | chr17 | TogoVar | |||||||
H3C11_chr6_27866845_27877346 | 27875500 | A | ATTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 2 | 116 | 0.0172 | 23 | c.-31 others(34): Show |
H3C11 | ENSG00000275379.2 | transcript | ENST00000616365.2 | protein_coding | 3155 | chr6 | TogoVar | |||||||
H3C14_chr1_149835687_149846208 | 149838427 | C | CACACACA others(16): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 300 | 0.0033 | 23 | c.*23 others(34): Show |
H3C14 | ENSG00000203811.2 | transcript | ENST00000369158.2 | protein_coding | 2259 | chr1 | TogoVar | |||||||
H4C12_chr6_27826174_27836560 | 27832868 | A | ATTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 264 | 0.0038 | 23 | c.-13 others(34): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 1309 | chr6 | TogoVar | |||||||
H4C13_chr6_27868148_27878534 | 27875500 | A | ATTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 121 | 0.0165 | 23 | c.-19 others(34): Show |
H4C13 | ENSG00000275126.2 | transcript | ENST00000618305.2 | protein_coding | 1967 | chr6 | TogoVar | |||||||
H4C14_chr1_149827657_149838052 | 149827830 | T | TTTCTTTC others(16): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 236 | 0.0042 | 23 | c.-48 others(34): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4826 | chr1 | TogoVar | |||||||
H4C14_chr1_149827657_149838052 | 149827834 | T | TTTCTTTC others(16): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 231 | 0.0043 | 23 | c.-48 others(34): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4822 | chr1 | TogoVar | |||||||
H4C14_chr1_149827657_149838052 | 149827865 | T | TTTCTTTC others(16): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 98 | 0.0204 | 23 | c.-48 others(34): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4791 | chr1 | TogoVar | |||||||
H4C2_chr6_26021896_26032283 | 26031178 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 357 | 0.0028 | 23 | c.-39 others(34): Show |
H4C2 | ENSG00000278705.3 | transcript | ENST00000377745.5 | protein_coding | 3896 | chr6 | TogoVar | |||||||
H6PD_chr1_9229774_9276337 | 9237236 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0003 | a0001c0003t0037 | a0001c0003t0037g0012 | 1 | 165 | 0.0061 | 23 | c.-11 others(40): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HACD2_chr3_123486554_123590053 | 123542146 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0073 | 1 | 47 | 0.0213 | 23 | c.293 others(42): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
HACE1_chr6_104723094_104864919 | 104793233 | C | CGAACCCC others(16): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0118 |
2 | 344 | 0.0058 | 23 | c.924 others(40): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 10/23 | chr6 | TogoVar | |||||||
HACL1_chr3_15555699_15606569 | 15592005 | T | TATACGTA others(16): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 426 | 0.0023 | 23 | c.228 others(38): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
HADHB_chr2_26239939_26295465 | 26285739 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01358.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0128 |
3 | 99 | 0.0303 | 23 | c.138 others(40): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAGH_chr16_1802629_1831825 | 1830944 | A | ACACACAC others(16): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG01109.hp1 HG01123.hp2 others(34): Show |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0032 a0001c0001t0001g0097 a0001c0001t0001g0120 others(27): Show |
37 | 198 | 0.1869 | 23 | c.-41 others(34): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 4120 | chr16 | TogoVar | |||||||
HAGH_chr16_1802629_1831825 | 1830944 | A | ACACACAC others(16): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 162 | 0.0062 | 23 | c.-41 others(34): Show |
HAGH | ENSG00000063854.13 | transcript | ENST00000397356.8 | protein_coding | 4120 | chr16 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41730053 | G | GAGAGAGA others(16): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0103 | 1 | 368 | 0.0027 | 23 | c.106 others(42): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAPLN2_chr1_156614415_156630725 | 156616672 | G | GTCCAAGG others(16): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | 23 | c.-30 others(34): Show |
HAPLN2 | ENSG00000132702.13 | transcript | ENST00000255039.6 | protein_coding | 2742 | chr1 | TogoVar | |||||||
HAPLN2_chr1_156614415_156630725 | 156623033 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 253 | 0.0040 | 23 | c.-24 others(38): Show |
HAPLN2 | ENSG00000132702.13 | transcript | ENST00000255039.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAPSTR1_chr16_9086644_9126635 | 9088603 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00673.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0151 a0001c0001t0003g0003 a0001c0001t0003g0038 others(17): Show |
27 | 327 | 0.0826 | 23 | c.-34 others(34): Show |
HAPSTR1 | ENSG00000182831.12 | transcript | ENST00000327827.12 | protein_coding | 3040 | chr16 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171977557 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 151 | 0.0066 | 23 | c.975 others(40): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977558 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 300 | 0.0033 | 23 | c.975 others(40): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42544838 | C | CTATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02886.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 a0001c0001t0003g0055 a0001c0001t0003g0056 |
3 | 299 | 0.0100 | 23 | c.-40 others(34): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 3999 | chr15 | TogoVar | |||||||
HAUS7_chrX_153442668_153475576 | 153446332 | T | TCAATGCC others(16): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01934.hp1 HG02572.hp1 others(12): Show |
a0001a0003 | a0001c0002a0001c0009a0003c0005 | a0001c0002t0001a0001c0009t0001a0003c0005t0001 | a0001c0002t0001g0019 a0001c0002t0001g0038 a0001c0002t0001g0051 others(10): Show |
15 | 319 | 0.0470 | 23 | c.*15 others(34): Show |
HAUS7 | ENSG00000213397.12 | transcript | ENST00000370211.10 | protein_coding | 1335 | chrX | TogoVar | |||||||
HAVCR1_chr5_157024413_157064116 | 157044676 | A | AGAAGAAA others(16): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 207 | 0.0048 | 23 | c.782 others(40): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154277332 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 253 | 0.0040 | 23 | c.*16 others(34): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 1458 | chr1 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154277333 | T | TATATATA others(16): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 283 | 0.0035 | 23 | c.*16 others(34): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 1459 | chr1 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 181990 | A | ACACACAC others(16): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 382 | 0.0026 | 23 | c.*88 others(32): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 812 | chr16 | TogoVar | |||||||
HCAR2_chr12_122696293_122708357 | 122704416 | A | ATTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03486.hp1 others(9): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0002a0001c0001t0011a0006c0007t0002 | a0001c0001t0002g0000 a0001c0001t0011g0000 a0006c0007t0002g0000 |
12 | 193 | 0.0622 | 23 | c.-11 others(34): Show |
HCAR2 | ENSG00000182782.8 | transcript | ENST00000328880.6 | protein_coding | 1060 | chr12 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32066331 | T | TTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 53 | 0.0189 | 23 | c.63- others(38): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32094700 | A | AAAGAAAG others(16): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 260 | 0.0038 | 23 | c.124 others(40): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32099350 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 102 | 0.0098 | 23 | c.137 others(40): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32102584 | A | ATACATAC others(16): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 142 | 0.0070 | 23 | c.*10 others(34): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 729 | chr20 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45372063 | T | TACATATA others(16): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 a0001c0001t0002g0060 |
2 | 223 | 0.0090 | 23 | c.123 others(44): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45372072 | T | TATAATAT others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01891.hp1 HG01891.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0005a0003c0003t0002 | a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0001t0002g0053 others(4): Show |
7 | 153 | 0.0458 | 23 | c.123 others(44): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar |