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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HBM_chr16_160978_171764 | 164841 | CCGGCGGG | C | upstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 370 | 0.0108 | -7 | c.-11 others(18): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1136 | chr16 | TogoVar | ||||||
HBM_chr16_160978_171764 | 164936 | GGCGGGGC | G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG01884.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0002t0001g0001 | 20 | 370 | 0.0541 | -7 | c.-10 others(18): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1041 | chr16 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 177247 | GGGCCCTC | G | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02723.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0002t0001g0001 | 3 | 384 | 0.0078 | -7 | c.-32 others(18): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 3211 | chr16 | TogoVar | ||||||
HBS1L_chr6_134955378_135059822 | 135040344 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02572.hp2 others(9): Show |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0006a0001c0001t0049a0008c0013t0051 | a0001c0001t0006g0004a0001c0001t0006g0019a0001c0001t0006g0020others(8): Show | 12 | 348 | 0.0345 | -7 | c.236 others(22): Show |
HBS1L | ENSG00000112339.15 | transcript | ENST00000367837.10 | protein_coding | 3/17 | chr6 | TogoVar | ||||||
HCAR2_chr12_122696293_122708357 | 122698059 | GCTTTTTT | G | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01261.hp2 HG02015.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000a0002c0002t0001g0000 | 3 | 428 | 0.0070 | -7 | c.*41 others(18): Show |
HCAR2 | ENSG00000182782.8 | transcript | ENST00000328880.6 | protein_coding | 3233 | chr12 | TogoVar | ||||||
HCFC1_chrX_153942557_153976818 | 153959099 | CCACGTGG | C | intron_variant | MODIFIER | NA18941.hp1 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0065 | 1 | 268 | 0.0037 | -7 | c.160 others(24): Show |
HCFC1 | ENSG00000172534.14 | transcript | ENST00000310441.12 | protein_coding | 9/25 | chrX | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32052796 | GATTTTTT | G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0286a0001c0002t0001g0284a0001c0002t0001g0285 | 3 | 290 | 0.0103 | -7 | c.62+ others(20): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
HCLS1_chr3_121626399_121665903 | 121646388 | ATTACTAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(106): Show |
a0001a0002a0003others(4): Show | a0001c0007a0001c0018a0002c0001others(7): Show | a0001c0007t0003a0001c0018t0003a0002c0001t0001others(8): Show | a0001c0007t0003g0091a0001c0018t0003g0163a0002c0001t0001g0277others(83): Show | 109 | 390 | 0.2795 | -7 | c.288 others(22): Show |
HCLS1 | ENSG00000180353.11 | transcript | ENST00000314583.8 | protein_coding | 4/13 | chr3 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45374299 | TTGTATAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(63): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0011a0001c0001t0001g0034a0001c0001t0001g0051others(63): Show | 66 | 226 | 0.2920 | -7 | c.123 others(28): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45412753 | AGAGGCTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(103): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0034others(103): Show | 106 | 226 | 0.4690 | -7 | c.101 others(28): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 3/7 | chr5 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45534404 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01256.hp2 HG01346.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0002 | a0001c0001t0001g0013a0001c0001t0002g0015a0001c0001t0002g0023others(5): Show | 8 | 226 | 0.0354 | -7 | c.850 others(26): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45592330 | TGATTAAA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0139a0001c0001t0001g0147a0001c0001t0001g0153others(47): Show | 50 | 226 | 0.2212 | -7 | c.849 others(26): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 605501 | GCCCCCTT | G | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp1 others(30): Show |
a0001a0002a0007others(3): Show | a0001c0009a0001c0013a0001c0045others(12): Show | a0001c0009t0001a0001c0009t0002a0001c0009t0010others(15): Show | a0001c0009t0001g0005a0001c0009t0001g0069a0001c0009t0001g0114others(28): Show | 33 | 408 | 0.0809 | -7 | c.121 others(24): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 620931 | CCAGGGGA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01167.hp2 others(2): Show |
a0001a0002a0015 | a0001c0001a0002c0028a0002c0035others(2): Show | a0001c0001t0021a0002c0028t0004a0002c0035t0005others(2): Show | a0001c0001t0021g0217a0002c0028t0004g0284a0002c0035t0005g0349others(2): Show | 5 | 408 | 0.0123 | -7 | c.*44 others(18): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3773 | chr19 | TogoVar | ||||||
HCN4_chr15_73314859_73373958 | 73372323 | AAACACAC | A | upstream_gene_variant | MODIFIER | HG03098.hp1 NA18947.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0010a0001c0001t0002g0134a0001c0001t0004g0286 | 3 | 344 | 0.0087 | -7 | c.-40 others(18): Show |
HCN4 | ENSG00000138622.4 | transcript | ENST00000261917.4 | protein_coding | 3366 | chr15 | TogoVar | ||||||
HCRTR2_chr6_55169515_55287617 | 55187411 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00673.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(39): Show | 43 | 368 | 0.1169 | -7 | c.223 others(26): Show |
HCRTR2 | ENSG00000137252.10 | transcript | ENST00000370862.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HCST_chr19_35897529_35909377 | 35899557 | TAAAAAAA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(47): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0007others(2): Show | 50 | 408 | 0.1226 | -7 | c.-30 others(18): Show |
HCST | ENSG00000126264.10 | transcript | ENST00000246551.9 | protein_coding | 2971 | chr19 | TogoVar | ||||||
HDAC11_chr3_13475306_13511416 | 13486571 | GTTTTTTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00621.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0039a0001c0001t0001g0064others(20): Show | 30 | 420 | 0.0714 | -7 | c.252 others(24): Show |
HDAC11 | ENSG00000163517.15 | transcript | ENST00000295757.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HDAC1_chr1_32287083_32338626 | 32320899 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02630.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0108others(8): Show | 11 | 146 | 0.0753 | -7 | c.281 others(24): Show |
HDAC1 | ENSG00000116478.12 | transcript | ENST00000373548.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HDAC8_chrX_72324516_72577843 | 72325472 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | NA18948.hp1 NA19070.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0058a0001c0001t0001g0202 | 3 | 208 | 0.0144 | -7 | c.*45 others(18): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 4043 | chrX | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72365143 | CATGCCTA | C | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0200 | 2 | 208 | 0.0096 | -7 | c.100 others(28): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72413261 | TCCCCCCA | T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0069a0001c0001t0001g0090others(23): Show | 26 | 208 | 0.1250 | -7 | c.100 others(28): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 9/10 | chrX | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72556868 | AACAATGG | A | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(1): Show | 4 | 208 | 0.0192 | -7 | c.437 others(26): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 4/10 | chrX | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72566296 | TAAAAAAC | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0100 | 2 | 208 | 0.0096 | -7 | c.437 others(24): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 4/10 | chrX | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18541502 | ATTTTATG | A | intron_variant | MODIFIER | HG01891.hp1 HG03041.hp2 HG03579.hp1 |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0042a0001c0003t0008a0001c0010t0008 | a0001c0002t0042g0019a0001c0003t0008g0146a0001c0010t0008g0147 | 3 | 156 | 0.0192 | -7 | c.23- others(24): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18784495 | CAAAACAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0019a0001c0001t0036a0001c0001t0037others(4): Show | a0001c0001t0019g0114a0001c0001t0036g0136a0001c0001t0037g0050others(4): Show | 7 | 156 | 0.0449 | -7 | c.221 others(26): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDAC9_chr7_18490749_19007416 | 18967858 | TAAAAAAC | T | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0021a0001c0001t0034a0001c0002t0001others(1): Show | a0001c0001t0021g0013a0001c0001t0034g0093a0001c0002t0001g0044others(1): Show | 4 | 156 | 0.0256 | -7 | c.302 others(26): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HDHD3_chr9_113368422_113381986 | 113376047 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00642.hp2 others(58): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0028a0001c0001t0001g0044others(5): Show | 61 | 464 | 0.1315 | -7 | c.-29 others(24): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
HDHD5_chr22_17132520_17164277 | 17151727 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(121): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0007a0001c0014others(6): Show | a0001c0001t0001a0001c0007t0001a0001c0014t0001others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0011others(89): Show | 124 | 422 | 0.2938 | -7 | c.127 others(24): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 1/7 | chr22 | TogoVar | ||||||
HDLBP_chr2_241222291_241320672 | 241241566 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG01255.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0001c0012others(2): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0015others(5): Show | a0001c0001t0005g0006a0001c0001t0005g0008a0001c0001t0005g0009others(20): Show | 23 | 354 | 0.0650 | -7 | c.216 others(24): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 17/27 | chr2 | TogoVar | ||||||
HDLBP_chr2_241222291_241320672 | 241245187 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0032 | a0001c0001t0004g0240a0001c0001t0004g0250a0001c0001t0004g0252others(41): Show | 44 | 354 | 0.1243 | -7 | c.195 others(26): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 16/27 | chr2 | TogoVar | ||||||
HDLBP_chr2_241222291_241320672 | 241298076 | AAAAAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0317a0001c0001t0002g0334a0001c0001t0005g0014others(6): Show | 9 | 354 | 0.0254 | -7 | c.-10 others(28): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84385196 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01099.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0004a0001c0001t0001g0072a0001c0001t0001g0073others(42): Show | 45 | 269 | 0.1673 | -7 | c.130 others(28): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 5/10 | chrX | TogoVar | ||||||
HDX_chrX_84312878_84507453 | 84408499 | GTTTTTTT | G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 269 | 0.0037 | -7 | c.130 others(28): Show |
HDX | ENSG00000165259.14 | transcript | ENST00000373177.3 | protein_coding | 5/10 | chrX | TogoVar | ||||||
HEATR1_chr1_236544005_236609516 | 236562929 | AATATTAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(111): Show |
a0001a0005a0013others(7): Show | a0001c0001a0001c0032a0001c0046others(9): Show | a0001c0001t0001a0001c0001t0012a0001c0032t0001others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(89): Show | 114 | 388 | 0.2938 | -7 | c.459 others(26): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 32/44 | chr1 | TogoVar | ||||||
HEATR1_chr1_236544005_236609516 | 236595070 | ACTTTTTG | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(196): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0032a0001c0046others(27): Show | a0001c0001t0001a0001c0001t0012a0001c0032t0001others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(156): Show | 199 | 388 | 0.5129 | -7 | c.109 others(24): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 8/44 | chr1 | TogoVar | ||||||
HEATR1_chr1_236544005_236609516 | 236609195 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(91): Show |
a0002a0006a0011others(11): Show | a0002c0002a0006c0005a0006c0038others(12): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0014others(14): Show | a0002c0002t0002g0010a0002c0002t0002g0015a0002c0002t0002g0029others(67): Show | 94 | 388 | 0.2423 | -7 | c.-48 others(18): Show |
HEATR1 | ENSG00000119285.11 | transcript | ENST00000366582.8 | protein_coding | 4680 | chr1 | TogoVar | ||||||
HEATR3_chr16_50060970_50112272 | 50108803 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp1 others(53): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0186a0001c0001t0003g0031a0001c0001t0003g0213others(49): Show | 56 | 314 | 0.1783 | -7 | c.*37 others(18): Show |
HEATR3 | ENSG00000155393.14 | transcript | ENST00000299192.8 | protein_coding | 1532 | chr16 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73477085 | TATATATA | T | downstream_gene_variant | MODIFIER | HG02293.hp2 HG02683.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0012a0001c0001t0002g0346a0001c0001t0004g0174 | 3 | 368 | 0.0082 | -7 | c.*15 others(18): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 1398 | chr14 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73511553 | AAATAAAT | A | intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01258.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0051a0001c0001t0001g0084a0001c0001t0001g0113others(15): Show | 19 | 368 | 0.0516 | -7 | c.155 others(24): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 7/17 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31353818 | GAGATGGA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0022others(32): Show | 35 | 354 | 0.0989 | -7 | c.241 others(26): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 16/35 | chr14 | TogoVar | ||||||
HEATR6_chr17_60036008_60083921 | 60048976 | TATATATA | T | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 NA18947.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0002g0060a0001c0001t0006g0180a0001c0001t0011g0031others(2): Show | 5 | 250 | 0.0200 | -7 | c.254 others(24): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 16/19 | chr17 | TogoVar | ||||||
HEATR6_chr17_60036008_60083921 | 60076704 | TAAAAAAA | T | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01358.hp1 others(16): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0007a0002c0002t0008a0002c0002t0010others(6): Show | a0002c0002t0007g0003a0002c0002t0007g0019a0002c0002t0007g0207others(12): Show | 19 | 250 | 0.0760 | -7 | c.220 others(22): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 1/19 | chr17 | TogoVar | ||||||
HECA_chr6_139130080_139185802 | 139143859 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00621.hp2 others(158): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014others(110): Show | 161 | 314 | 0.5127 | -7 | c.271 others(24): Show |
HECA | ENSG00000112406.5 | transcript | ENST00000367658.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HECA_chr6_139130080_139185802 | 139165805 | GTGGGACA | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00621.hp2 others(176): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(124): Show | 179 | 314 | 0.5701 | -7 | c.272 others(22): Show |
HECA | ENSG00000112406.5 | transcript | ENST00000367658.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HECTD4_chr12_112155195_112387431 | 112324100 | TTCCTCTC | T | intron_variant | MODIFIER | HG00597.hp2 HG02258.hp2 HG02451.hp2 others(14): Show |
a0001a0002a0014 | a0001c0001a0001c0009a0001c0011others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0004g0061a0001c0001t0004g0067a0001c0001t0004g0068others(14): Show | 17 | 270 | 0.0630 | -7 | c.178 others(24): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43120119 | TGACCATA | T | intron_variant | MODIFIER | HG02965.hp1 HG03130.hp2 HG03139.hp1 |
a0001a0004 | a0001c0002a0004c0011 | a0001c0002t0005a0004c0011t0005 | a0001c0002t0005g0180a0004c0011t0005g0181a0004c0011t0005g0182 | 3 | 182 | 0.0165 | -7 | c.-32 others(24): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43248687 | CTCCTCCT | C | intron_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG01496.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0016a0001c0002t0004others(4): Show | a0001c0001t0004g0001a0001c0001t0004g0047a0001c0001t0004g0057others(6): Show | 9 | 182 | 0.0495 | -7 | c.27+ others(22): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43488376 | AAGGAAGG | A | intron_variant | MODIFIER | HG00621.hp2 HG01070.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0003a0001c0004t0009 | a0001c0001t0002g0024a0001c0004t0003g0065a0001c0004t0009g0168 | 3 | 182 | 0.0165 | -7 | c.323 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43488380 | AAGGAAGG | A | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG01243.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0009 | a0001c0002t0001a0001c0002t0017a0001c0010t0002others(1): Show | a0001c0002t0001g0104a0001c0002t0017g0058a0001c0010t0002g0055others(1): Show | 4 | 182 | 0.0220 | -7 | c.323 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |