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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HAVCR2_chr5_157080832_157114044 | 157111960 | AATTTTAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(271): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(224): Show |
274 | 378 | 0.7249 | -9 | c.-29 others(20): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 2917 | chr5 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154271906 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01256.hp2 HG01258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 |
12 | 153 | 0.0784 | -9 | c.-81 others(18): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 722 | chr1 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154277330 | ATATTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0004 |
10 | 374 | 0.0267 | -9 | c.*16 others(20): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 1456 | chr1 | TogoVar | |||||||
HAX1_chr1_154267629_154280875 | 154277332 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(63): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0002a0001c0002t0002a0004c0006t0002 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0015 others(2): Show |
66 | 318 | 0.2075 | -9 | c.*16 others(20): Show |
HAX1 | ENSG00000143575.16 | transcript | ENST00000328703.12 | protein_coding | 1458 | chr1 | TogoVar | |||||||
HCAR2_chr12_122696293_122708357 | 122698083 | CTTTCTTA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01993.hp1 HG02273.hp1 HG02293.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 others(1): Show |
7 | 424 | 0.0165 | -9 | c.*41 others(20): Show |
HCAR2 | ENSG00000182782.8 | transcript | ENST00000328880.6 | protein_coding | 3209 | chr12 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32054475 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0230 others(5): Show |
8 | 39 | 0.2051 | -9 | c.62+ others(24): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32072562 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01192.hp2 others(33): Show |
a0001 | a0001c0001a0001c0008a0001c0010 | a0001c0001t0001a0001c0008t0001a0001c0010t0001 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0014 others(33): Show |
36 | 285 | 0.1263 | -9 | c.184 others(24): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45372637 | TTATATAA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG01361.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0059 a0001c0001t0002g0011 a0001c0001t0002g0058 others(20): Show |
23 | 224 | 0.1027 | -9 | c.123 others(30): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45374301 | GTATACAT others(2): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG01884.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 others(2): Show |
5 | 222 | 0.0225 | -9 | c.123 others(30): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45695884 | GCCGCCGC others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG01433.hp2 HG02055.hp2 HG02257.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0014 | a0002c0002t0008g0224 a0002c0002t0008g0225 a0002c0002t0008g0226 others(2): Show |
5 | 224 | 0.0223 | -9 | c.201 others(16): Show |
p.Gly others(11): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 1/8 | 496/9933 | 201/2673 | 67/890 | chr5 | TogoVar | |||
HCN2_chr19_584881_622159 | 589040 | GACTGGAG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(230): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(94): Show | a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 others(222): Show |
233 | 406 | 0.5739 | -9 | c.-90 others(18): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 840 | chr19 | TogoVar | |||||||
HCN3_chr1_155272463_155294848 | 155290989 | AAATAATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(93): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0004c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0024 others(40): Show |
96 | 120 | 0.8000 | -9 | c.*25 others(20): Show |
HCN3 | ENSG00000143630.10 | transcript | ENST00000368358.4 | protein_coding | 1142 | chr1 | TogoVar | |||||||
HCRTR2_chr6_55169515_55287617 | 55187411 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02258.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0002 | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0267 others(3): Show |
6 | 156 | 0.0385 | -9 | c.223 others(28): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HCRT_chr17_42179060_42190452 | 42187582 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01169.hp1 HG01175.hp2 HG01243.hp2 others(40): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0008 |
43 | 114 | 0.3772 | -9 | c.-22 others(20): Show |
HCRT | ENSG00000161610.1 | transcript | ENST00000293330.1 | protein_coding | 2131 | chr17 | TogoVar | |||||||
HCST_chr19_35897529_35909377 | 35900173 | CAGCCTCC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(53): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0007 others(2): Show |
56 | 406 | 0.1379 | -9 | c.-24 others(20): Show |
HCST | ENSG00000126264.10 | transcript | ENST00000246551.9 | protein_coding | 2355 | chr19 | TogoVar | |||||||
HDAC2_chr6_113928028_113976148 | 113930778 | CTCTCTCT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 HG03471.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0060 a0001c0001t0010g0028 |
3 | 400 | 0.0075 | -9 | c.*10 others(22): Show |
HDAC2 | ENSG00000196591.12 | transcript | ENST00000519065.6 | protein_coding | 2249 | chr6 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239199108 | CCCCCCAC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(202): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(104): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0051 others(202): Show |
205 | 240 | 0.8542 | -9 | c.95- others(24): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239286519 | TGGGAAGG others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01496.hp1 HG01517.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0112 a0001c0001t0003g0087 a0001c0001t0005g0083 others(3): Show |
6 | 240 | 0.0250 | -9 | c.23- others(26): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239294712 | TGCCTCGG others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG02818.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0027 | a0001c0001t0001a0001c0001t0004a0001c0004t0062others(1): Show | a0001c0001t0001g0231 a0001c0001t0004g0232 a0001c0004t0062g0077 others(1): Show |
4 | 237 | 0.0169 | -9 | c.22+ others(26): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239374386 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00609.hp1 others(24): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(17): Show | a0001c0001t0001g0051 a0001c0001t0001g0121 a0001c0001t0001g0138 others(24): Show |
27 | 36 | 0.7500 | -9 | c.-21 others(30): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
HDAC7_chr12_47777722_47824903 | 47806866 | GCTCCCAA others(2): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01192.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0165 a0001c0001t0001g0168 others(8): Show |
12 | 378 | 0.0317 | -9 | c.20- others(24): Show |
HDAC7 | ENSG00000061273.18 | transcript | ENST00000080059.12 | protein_coding | 1/25 | chr12 | TogoVar | |||||||
HDAC8_chrX_72324516_72577843 | 72554490 | GGCGGGGG others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01433.hp1 HG02027.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0168 a0001c0002t0001g0173 a0001c0002t0001g0174 others(12): Show |
15 | 206 | 0.0728 | -9 | c.437 others(28): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 4/10 | chrX | TogoVar | |||||||
HDAC8_chrX_72324516_72577843 | 72554499 | AGCGGGGA others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02886.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025 a0001c0001t0001g0070 a0001c0001t0001g0098 others(1): Show |
4 | 160 | 0.0250 | -9 | c.437 others(28): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 4/10 | chrX | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18525826 | CTTTGAGA others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0036a0001c0002t0001 | a0001c0001t0036g0136 a0001c0002t0001g0135 |
2 | 154 | 0.0130 | -9 | c.22+ others(26): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18824081 | GAAGAAGA others(2): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0034a0001c0002t0018 | a0001c0001t0001g0140 a0001c0001t0034g0093 a0001c0002t0018g0021 |
3 | 154 | 0.0195 | -9 | c.232 others(28): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18980673 | GTTCTTGT others(2): Show |
G | intron_variant | MODIFIER | HG03942.hp1 HG03942.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0041a0001c0009t0002 | a0001c0002t0041g0056 a0001c0009t0002g0065 |
2 | 154 | 0.0130 | -9 | c.317 others(28): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDC_chr15_50236947_50270726 | 50240886 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01884.hp2 HG02055.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0008others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0008t0002others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0004t0001g0180 others(3): Show |
8 | 24 | 0.3333 | -9 | c.*13 others(20): Show |
HDC | ENSG00000140287.11 | transcript | ENST00000267845.8 | protein_coding | 1060 | chr15 | TogoVar | |||||||
HDDC3_chr15_90924968_90937549 | 90925248 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02630.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 12 | 98 | 0.1224 | -9 | c.*60 others(20): Show |
HDDC3 | ENSG00000184508.12 | transcript | ENST00000394272.8 | protein_coding | 4719 | chr15 | TogoVar | |||||||
HDHD2_chr18_47102410_47155500 | 47138171 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00639.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(23): Show |
43 | 137 | 0.3139 | -9 | c.-10 others(26): Show |
HDHD2 | ENSG00000167220.12 | transcript | ENST00000300605.11 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
HDHD3_chr9_113368422_113381986 | 113377344 | ACCGCTGT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00735.hp1 others(83): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0003a0002c0002t0003a0002c0002t0014others(1): Show | a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0046 others(9): Show |
86 | 462 | 0.1861 | -9 | c.-91 others(18): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 359 | chr9 | TogoVar | |||||||
HDHD3_chr9_113368422_113381986 | 113378142 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00735.hp1 others(62): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003a0002c0002t0014 | a0001c0001t0003g0035 a0002c0002t0003g0003 a0002c0002t0003g0006 others(3): Show |
65 | 138 | 0.4710 | -9 | c.-17 others(20): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 1157 | chr9 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241241566 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0002 a0001c0001t0004g0250 a0001c0001t0004g0252 others(19): Show |
23 | 45 | 0.5111 | -9 | c.216 others(26): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 17/27 | chr2 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241298074 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(115): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0037 others(113): Show |
118 | 352 | 0.3352 | -9 | c.-10 others(30): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
HDLBP_chr2_241222291_241320672 | 241300950 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00735.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 others(39): Show |
43 | 117 | 0.3675 | -9 | c.-10 others(30): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
HEATR1_chr1_236544005_236609516 | 236549230 | CTTTACGT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02896.hp1 HG02897.hp1 |
a0009 | a0009c0017 | a0009c0017t0009 | a0009c0017t0009g0041 a0009c0017t0009g0269 |
3 | 386 | 0.0078 | -9 | c.*16 others(20): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 45/45 | 1663 | chr1 | TogoVar | ||||||
HEATR1_chr1_236544005_236609516 | 236568889 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01257.hp2 others(46): Show |
a0003a0010a0017others(6): Show | a0003c0003a0003c0048a0010c0010others(7): Show | a0003c0003t0004a0003c0003t0016a0003c0048t0004others(8): Show | a0003c0003t0004g0001 a0003c0003t0004g0012 a0003c0003t0004g0026 others(33): Show |
49 | 386 | 0.1269 | -9 | c.407 others(25): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 29/44 | chr1 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477079 | TATATATA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG02015.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0104 a0001c0001t0001g0122 a0001c0001t0005g0017 |
3 | 356 | 0.0084 | -9 | c.*15 others(20): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1404 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477081 | TATATATA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02976.hp2 HG03098.hp1 HG03239.hp1 others(3): Show |
a0001a0018 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0135 a0001c0001t0003g0224 a0001c0001t0004g0188 others(3): Show |
6 | 361 | 0.0166 | -9 | c.*15 others(20): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1402 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73477083 | TATATATA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0111 a0001c0001t0001g0119 others(1): Show |
4 | 360 | 0.0111 | -9 | c.*15 others(20): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1400 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73506804 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG02132.hp2 HG03017.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0261 a0001c0001t0004g0156 a0001c0001t0004g0174 others(8): Show |
11 | 79 | 0.1392 | -9 | c.188 others(26): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 9/17 | chr14 | TogoVar | |||||||
HEATR4_chr14_73473484_73563947 | 73511556 | TAAATAAA others(2): Show |
T | intron_variant | MODIFIER | NA18959.hp2 NA18982.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0002g0257 |
3 | 366 | 0.0082 | -9 | c.155 others(26): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 7/17 | chr14 | TogoVar | |||||||
HEATR5A_chr14_31286788_31425550 | 31290175 | CAGGAGTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01993.hp2 HG02647.hp2 others(3): Show |
a0010a0013 | a0010c0010a0013c0012 | a0010c0010t0007a0010c0010t0009a0013c0012t0007 | a0010c0010t0007g0350 a0010c0010t0007g0351 a0010c0010t0009g0063 others(3): Show |
6 | 354 | 0.0169 | -9 | c.*31 others(20): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1612 | chr14 | TogoVar | |||||||
HEATR5A_chr14_31286788_31425550 | 31302938 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(74): Show |
a0001a0002a0017others(1): Show | a0001c0001a0002c0002a0002c0021others(2): Show | a0001c0001t0001a0001c0001t0010a0002c0002t0001others(6): Show | a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 others(74): Show |
77 | 250 | 0.3080 | -9 | c.524 others(26): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 32/35 | chr14 | TogoVar | |||||||
HEATR9_chr17_35849955_35873891 | 35860470 | ATTTATTT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(57): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0013others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0013t0001others(1): Show | a0001c0001t0001g0103 a0002c0002t0001g0003 a0002c0002t0001g0004 others(15): Show |
60 | 378 | 0.1587 | -9 | c.757 others(26): Show |
HEATR9 | ENSG00000270379.6 | transcript | ENST00000604834.6 | protein_coding | 8/14 | chr17 | TogoVar | |||||||
HECTD1_chr14_31095117_31212793 | 31150224 | AAATGTGT others(2): Show |
A | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG02258.hp1 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0022 a0001c0002t0006g0023 a0001c0002t0006g0024 |
3 | 340 | 0.0088 | -9 | c.193 others(23): Show |
HECTD1 | ENSG00000092148.14 | transcript | ENST00000399332.6 | protein_coding | 12/42 | chr14 | TogoVar | |||||||
HECW1_chr7_43107647_43571001 | 43141669 | TGTATTTT others(2): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03130.hp2 HG03139.hp1 |
a0001a0004 | a0001c0002a0004c0011 | a0001c0002t0005a0004c0011t0005 | a0001c0002t0005g0180 a0004c0011t0005g0181 a0004c0011t0005g0182 |
3 | 180 | 0.0167 | -9 | c.-32 others(28): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43186668 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp2 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0003g0087 others(35): Show |
38 | 167 | 0.2275 | -9 | c.-31 others(28): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43248696 | TTCCTCCT others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02895.hp2 |
a0001a0003 | a0001c0001a0001c0012a0003c0008 | a0001c0001t0001a0001c0012t0007a0003c0008t0010 | a0001c0001t0001g0002 a0001c0012t0007g0177 a0003c0008t0010g0003 |
3 | 29 | 0.1034 | -9 | c.27+ others(24): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43315456 | ATTATTAT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02109.hp1 others(15): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(11): Show | a0001c0001t0001g0100 a0001c0001t0003g0097 a0001c0001t0014g0005 others(15): Show |
18 | 180 | 0.1000 | -9 | c.352 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43315465 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(67): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0114 others(67): Show |
70 | 168 | 0.4167 | -9 | c.352 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |