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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HEXD_chr17_82413347_82447645 | 82433120 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080a0002c0002t0001g0107 | 2 | 400 | 0.0050 | -11 | c.283 others(26): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEXD_chr17_82413347_82447645 | 82433128 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0069 | 2 | 400 | 0.0050 | -11 | c.283 others(26): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEXD_chr17_82413347_82447645 | 82436888 | TGCCTCGG others(4): Show |
T | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0158 | 1 | 400 | 0.0025 | -11 | c.703 others(26): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEYL_chr1_39618435_39644643 | 39639683 | AGGCCCCG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 440 | 0.0023 | -11 | c.-69 others(18): Show |
HEYL | ENSG00000163909.8 | transcript | ENST00000372852.4 | protein_coding | 41 | chr1 | TogoVar | ||||||
HFM1_chr1_91255766_91409837 | 91264361 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 362 | 0.0028 | -11 | c.397 others(30): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | ||||||
HGF_chr7_81694010_81775047 | 81770801 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG02559.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0040a0001c0002t0004g0251 | 2 | 272 | 0.0074 | -11 | c.-84 others(20): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 755 | chr7 | TogoVar | ||||||
HGH1_chr8_144132774_144145851 | 144138290 | ACTCGGGC others(4): Show |
A | frameshift_variant | HIGH | NA18971.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0001 | 1 | 342 | 0.0029 | -11 | c.456 others(18): Show |
p.Asp others(5): Show |
HGH1 | ENSG00000235173.7 | transcript | ENST00000347708.5 | protein_coding | 1/6 | 518/2534 | 456/1173 | 152/390 | chr8 | TogoVar | ||
HGSNAT_chr8_43135464_43207855 | 43148333 | TAATTTAT others(4): Show |
T | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 234 | 0.0043 | -11 | c.234 others(28): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HGSNAT_chr8_43135464_43207855 | 43198280 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02886.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0168a0001c0001t0008g0169 | 2 | 234 | 0.0086 | -11 | c.172 others(28): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210354195 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01515.hp1 NA18969.hp2 NA18973.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0004g0147a0001c0002t0001g0228a0001c0002t0002g0229others(1): Show | 4 | 268 | 0.0149 | -11 | c.91+ others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210370163 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002a0001c0002t0004 | a0001c0001t0005g0073a0001c0002t0002g0011a0001c0002t0004g0199 | 3 | 268 | 0.0112 | -11 | c.159 others(28): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210494542 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0095a0001c0001t0001g0155a0001c0001t0001g0175others(20): Show | 23 | 268 | 0.0858 | -11 | c.100 others(32): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210577637 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 268 | 0.0037 | -11 | c.104 others(32): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210577654 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0213 | 1 | 268 | 0.0037 | -11 | c.104 others(32): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210673755 | CTTATTTA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0015others(4): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(8): Show | a0001c0001t0003g0064a0001c0001t0003g0091a0001c0001t0003g0097others(47): Show | 50 | 268 | 0.1866 | -11 | c.139 others(28): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHIPL1_chr14_99640129_99685569 | 99640877 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0223 | 1 | 374 | 0.0027 | -11 | c.-43 others(22): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 4251 | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99656865 | AAGGAAGG others(4): Show |
A | intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0223 | 1 | 374 | 0.0027 | -11 | c.903 others(26): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HHIPL1_chr14_99640129_99685569 | 99657849 | TACACACA others(4): Show |
T | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0039 | 1 | 374 | 0.0027 | -11 | c.104 others(28): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HHIPL2_chr1_222517264_222553104 | 222552222 | TAAAAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02135.hp1 HG03098.hp1 HG04184.hp1 others(9): Show |
a0001a0002a0003 | a0001c0003a0002c0005a0003c0007 | a0001c0003t0001a0002c0005t0001a0003c0007t0001 | a0001c0003t0001g0222a0001c0003t0001g0229a0001c0003t0001g0233others(9): Show | 12 | 418 | 0.0287 | -11 | c.-41 others(22): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 4119 | chr1 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144684232 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 316 | 0.0032 | -11 | c.832 others(30): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HHIP_chr4_144641156_144750271 | 144716854 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02630.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0059a0001c0001t0060others(2): Show | a0001c0001t0001g0268a0001c0001t0059g0128a0001c0001t0060g0075others(6): Show | 9 | 316 | 0.0285 | -11 | c.167 others(30): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HHLA1_chr8_132056480_132116157 | 132083028 | GGGTGCAT others(4): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0020 | a0001c0001t0002g0080a0001c0001t0002g0097a0001c0001t0003g0002others(5): Show | 13 | 380 | 0.0342 | -11 | c.677 others(28): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 10/16 | chr8 | TogoVar | ||||||
HHLA1_chr8_132056480_132116157 | 132102792 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00639.hp2 others(41): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0027a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0147a0001c0001t0001g0159a0001c0001t0001g0160others(41): Show | 44 | 380 | 0.1158 | -11 | c.139 others(28): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 3/16 | chr8 | TogoVar | ||||||
HHLA2_chr3_108291548_108383285 | 108340901 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01167.hp2 HG01168.hp1 others(4): Show |
a0002a0009 | a0002c0003a0009c0011 | a0002c0003t0001a0002c0003t0007a0002c0003t0010others(1): Show | a0002c0003t0001g0255a0002c0003t0007g0045a0002c0003t0007g0059others(4): Show | 7 | 322 | 0.0217 | -11 | c.-26 others(30): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HHLA2_chr3_108291548_108383285 | 108340909 | TTCCTTCC others(4): Show |
T | intron_variant | MODIFIER | HG04228.hp1 NA19084.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0001 | a0001c0002t0003g0146a0002c0003t0001g0245 | 2 | 322 | 0.0062 | -11 | c.-26 others(30): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HHLA2_chr3_108291548_108383285 | 108368535 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0255 | 1 | 322 | 0.0031 | -11 | c.110 others(30): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HIBADH_chr7_27520442_27667883 | 27527066 | CAGCAAAT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(292): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(292): Show | 295 | 326 | 0.9049 | -11 | c.853 others(26): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27583433 | CAACTTCA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(285): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(285): Show | 288 | 326 | 0.8834 | -11 | c.485 others(30): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27605586 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0175others(2): Show | 5 | 326 | 0.0153 | -11 | c.484 others(30): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27612332 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 326 | 0.0031 | -11 | c.484 others(30): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
HIBCH_chr2_190198920_190324826 | 190291978 | CTTGTTTG others(4): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02572.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0006 | a0001c0001t0001g0005a0001c0001t0001g0162a0001c0001t0001g0163others(6): Show | 10 | 368 | 0.0272 | -11 | c.305 others(28): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 4/13 | chr2 | TogoVar | ||||||
HID1_chr17_74945742_74977759 | 74976736 | AAAAAAAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0074 | 1 | 364 | 0.0028 | -11 | c.-40 others(22): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3978 | chr17 | TogoVar | ||||||
HID1_chr17_74945742_74977759 | 74976742 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0024 | a0001c0002t0002a0001c0024t0001 | a0001c0002t0002g0104a0001c0024t0001g0083 | 2 | 364 | 0.0055 | -11 | c.-40 others(22): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3984 | chr17 | TogoVar | ||||||
HIF1AN_chr10_100530943_100564998 | 100533500 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0071a0001c0001t0072 | a0001c0001t0071g0033a0001c0001t0072g0034 | 2 | 320 | 0.0063 | -11 | c.-24 others(22): Show |
HIF1AN | ENSG00000166135.14 | transcript | ENST00000299163.7 | protein_coding | 2442 | chr10 | TogoVar | ||||||
HIF1A_chr14_61690513_61753258 | 61742885 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0006 | a0006c0010 | a0006c0010t0008 | a0006c0010t0008g0274 | 1 | 322 | 0.0031 | -11 | c.209 others(30): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HIF3A_chr19_46292042_46348433 | 46294875 | TCTTGTTA others(4): Show |
T | upstream_gene_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0185 | 1 | 418 | 0.0024 | -11 | c.-22 others(22): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 2166 | chr19 | TogoVar | ||||||
HIF3A_chr19_46292042_46348433 | 46331513 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0031a0002c0004t0004a0002c0004t0024 | a0001c0001t0031g0303a0002c0004t0004g0160a0002c0004t0024g0391 | 3 | 418 | 0.0072 | -11 | c.183 others(28): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HIF3A_chr19_46292042_46348433 | 46343509 | TTCCTTCC others(4): Show |
T | downstream_gene_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0108 | 1 | 418 | 0.0024 | -11 | c.*38 others(22): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 77 | chr19 | TogoVar | ||||||
HIF3A_chr19_46292042_46348433 | 46346298 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0373 | 1 | 418 | 0.0024 | -11 | c.*66 others(22): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 2866 | chr19 | TogoVar | ||||||
HIGD1A_chr3_42777908_42809490 | 42779391 | TTGTCTAA others(4): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0148 | 1 | 400 | 0.0025 | -11 | c.*58 others(22): Show |
HIGD1A | ENSG00000181061.14 | transcript | ENST00000321331.12 | protein_coding | 3516 | chr3 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86316771 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0016others(59): Show | 69 | 398 | 0.1734 | -11 | c.268 others(30): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HINT3_chr6_125951770_125985244 | 125964739 | CACACACA others(4): Show |
C | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 268 | 0.0037 | -11 | c.202 others(28): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122834329 | GGGAAAGG others(4): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 348 | 0.0029 | -11 | c.-12 others(22): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 1127 | chr12 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75589707 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01099.hp2 HG01192.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0017others(11): Show | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0224others(20): Show | 23 | 254 | 0.0906 | -11 | c.384 others(28): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 4/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75647211 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01261.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0051a0001c0001t0001g0081a0001c0001t0001g0201others(4): Show | 7 | 254 | 0.0276 | -11 | c.121 others(30): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75681497 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00642.hp2 others(26): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0023others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0107a0001c0001t0001g0167a0001c0001t0001g0169others(26): Show | 29 | 254 | 0.1142 | -11 | c.120 others(30): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75729305 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0063 | 1 | 254 | 0.0039 | -11 | c.120 others(28): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIPK1_chr1_113924324_113982869 | 113938924 | AAAAATAC others(4): Show |
A | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0324 | 1 | 382 | 0.0026 | -11 | c.-2- others(26): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HIPK1_chr1_113924324_113982869 | 113938926 | AAATACAC others(4): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01255.hp2 HG01358.hp1 others(5): Show |
a0001a0003 | a0001c0003a0003c0007 | a0001c0003t0003a0001c0003t0023a0003c0007t0003 | a0001c0003t0003g0008a0001c0003t0003g0265a0001c0003t0003g0266others(4): Show | 8 | 382 | 0.0209 | -11 | c.-2- others(26): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HIPK1_chr1_113924324_113982869 | 113944159 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 382 | 0.0026 | -11 | c.107 others(30): Show |
HIPK1 | ENSG00000163349.22 | transcript | ENST00000426820.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |