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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOLH1_chr11_49140092_49213602 | 49158044 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0249 | 1 | 374 | 0.0027 | 0 | c.144 others(6): Show |
FOLH1 | ENSG00000086205.18 | transcript | ENST00000256999.7 | protein_coding | 13/18 | chr11 | TogoVar | ||||||
FRA10AC1_chr10_93662883_93707592 | 93698182 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA18973.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 | 1 | 364 | 0.0028 | 0 | c.174 others(5): Show |
FRA10AC1 | ENSG00000148690.12 | transcript | ENST00000359204.5 | protein_coding | 3/13 | chr10 | TogoVar | ||||||
FRMD1_chr6_168048095_168084212 | 168075336 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG02602.hp2 | a0003 | a0003c0006 | a0003c0006t0006 | a0003c0006t0006g0091 | 1 | 402 | 0.0025 | 0 | c.214 others(5): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
G3BP1_chr5_151766954_151817785 | 151790321 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 342 | 0.0029 | 0 | c.96- others(4): Show |
G3BP1 | ENSG00000145907.16 | transcript | ENST00000356245.8 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30778146 | CAAAAAGA others(149): Show |
C | exon_loss_variant others(4): Show |
HIGH | NA19002.hp1 | a0008 | a0008c0011 | a0008c0011t0003 | a0008c0011t0003g0269 | 1 | 282 | 0.0036 | -156 | c.130 others(15): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/15 | chr3 | TogoVar | ||||||
GAGE10_chrX_49298646_49324841 | 49317162 | T | G | splice_acceptor_variant others(1): Show |
HIGH | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 302 | 0.0033 | 0 | c.203 others(5): Show |
GAGE10 | ENSG00000215274.6 | transcript | ENST00000407599.4 | protein_coding | 3/4 | chrX | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132203685 | CCACACCT others(62): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19002.hp2 | a0003 | a0003c0033 | a0003c0033t0001 | a0003c0033t0001g0114 | 1 | 183 | 0.0055 | -69 | c.107 others(81): Show |
p.Val others(5): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 7/11 | 1468/2933 | 1078/1812 | 360/603 | chr12 | TogoVar | ||
GANC_chr15_42268201_42358666 | 42352028 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 262 | 0.0038 | 0 | c.263 others(6): Show |
GANC | ENSG00000214013.10 | transcript | ENST00000318010.13 | protein_coding | 23/23 | chr15 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125301963 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp2 HG00621.hp1 HG01081.hp2 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007a0001c0002t0038 | a0001c0002t0003g0004a0001c0002t0003g0005a0001c0002t0003g0123others(27): Show | 30 | 340 | 0.0882 | 2 | c.186 others(13): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GBE1_chr3_81484703_81766645 | 81627315 | GTGTCAAG others(16269): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00597.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0104 | 1 | 304 | 0.0033 | -16276 | c.783 others(17): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 7/16 | chr3 | TogoVar | ||||||
GBP7_chr1_89126742_89181003 | 89150576 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 376 | 0.0027 | 0 | c.626 others(5): Show |
GBP7 | ENSG00000213512.3 | transcript | ENST00000294671.3 | protein_coding | 5/10 | chr1 | TogoVar | ||||||
GBP7_chr1_89126742_89181003 | 89164860 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG02630.hp1 | a0008 | a0008c0013 | a0008c0013t0002 | a0008c0013t0002g0158 | 1 | 376 | 0.0027 | 0 | c.191 others(5): Show |
GBP7 | ENSG00000213512.3 | transcript | ENST00000294671.3 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
GCKR_chr2_27491839_27528684 | 27505716 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 324 | 0.0031 | 0 | c.751 others(5): Show |
GCKR | ENSG00000084734.9 | transcript | ENST00000264717.7 | protein_coding | 9/18 | chr2 | TogoVar | ||||||
GDF2_chr10_47317454_47332588 | 47324839 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG01070.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0026 | 1 | 424 | 0.0024 | 0 | c.347 others(5): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
GDF9_chr5_132856185_132871469 | 132862558 | T | C | splice_acceptor_variant others(1): Show |
HIGH | NA18976.hp2 | a0005 | a0005c0007 | a0005c0007t0020 | a0005c0007t0020g0039 | 1 | 464 | 0.0022 | 0 | c.398 others(5): Show |
GDF9 | ENSG00000164404.9 | transcript | ENST00000687138.1 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
GDPD4_chr11_77211558_77306686 | 77268541 | T | G | splice_acceptor_variant others(1): Show |
HIGH | HG02132.hp2 NA18981.hp1 NA18987.hp1 |
a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0047a0003c0003t0007g0048a0003c0003t0007g0081 | 3 | 350 | 0.0086 | 0 | c.625 others(5): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 9/16 | chr11 | TogoVar | ||||||
GEMIN2_chr14_39109323_39141973 | 39131946 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG01243.hp1 HG02451.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0144a0001c0001t0001g0145others(4): Show | 7 | 424 | 0.0165 | 1 | c.601 others(6): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42628209 | TTTATATG others(2672): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(87): Show |
a0001a0004a0008 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0021others(87): Show | 90 | 210 | 0.4286 | -2679 | c.71- others(15): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GIPR_chr19_45663221_45688722 | 45669468 | ACCCTCCA others(3): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA18965.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0108 | 1 | 416 | 0.0024 | -10 | c.-44 others(19): Show |
GIPR | ENSG00000010310.9 | transcript | ENST00000590918.6 | protein_coding | 2/14 | 42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
GIT1_chr17_29568475_29594648 | 29581382 | T | A | splice_acceptor_variant others(1): Show |
HIGH | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 400 | 0.0025 | 0 | c.719 others(5): Show |
GIT1 | ENSG00000108262.16 | transcript | ENST00000225394.8 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
GJB2_chr13_20182470_20197938 | 20189605 | T | G | splice_acceptor_variant others(1): Show |
HIGH | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 420 | 0.0024 | 0 | c.-22 others(5): Show |
GJB2 | ENSG00000165474.8 | transcript | ENST00000382848.5 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
GJB5_chr1_34750047_34763512 | 34757288 | TGTTCTTG others(10): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA18612.hp1 NA18946.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 4 | 468 | 0.0086 | -17 | c.-24 others(27): Show |
GJB5 | ENSG00000189280.3 | transcript | ENST00000338513.1 | protein_coding | 2/2 | 24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
GJB7_chr6_87277980_87334278 | 87323031 | TGCTTTTT others(80): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG01891.hp2 HG02055.hp1 HG02572.hp1 others(13): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0005others(1): Show | a0001c0001t0006a0001c0001t0013a0003c0003t0008others(2): Show | a0001c0001t0006g0004a0001c0001t0006g0053a0001c0001t0006g0055others(5): Show | 16 | 382 | 0.0419 | -87 | c.-20 others(99): Show |
GJB7 | ENSG00000164411.12 | transcript | ENST00000525899.6 | protein_coding | 2/3 | 38120 | chr6 | TogoVar | |||||
GMPS_chr3_155865650_155949020 | 155877738 | GGTGAGGG others(20067): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG04204.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0040 | 1 | 380 | 0.0026 | -20074 | c.27+ others(15): Show |
GMPS | ENSG00000163655.16 | transcript | ENST00000496455.7 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
GNG8_chr19_46628953_46641202 | 46634726 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 438 | 0.0023 | 0 | c.-43 others(5): Show |
GNG8 | ENSG00000167414.5 | transcript | ENST00000693335.1 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
GOLGA8J_chr15_30077955_30101690 | 30090166 | GTCTCCAG others(90): Show |
G | frameshift_variant others(3): Show |
HIGH | NA19043.hp1 | a0054 | a0054c0047 | a0054c0047t0012 | a0054c0047t0012g0179 | 1 | 345 | 0.0029 | -97 | c.113 others(109): Show |
p.Asn others(5): Show |
GOLGA8J | ENSG00000179938.13 | transcript | ENST00000567927.2 | protein_coding | 13/19 | 1132/1899 | 378/632 | chr15 | TogoVar | |||
GPATCH1_chr19_33076181_33135542 | 33088112 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01928.hp2 NA18906.hp2 NA18956.hp2 others(3): Show |
a0002a0003 | a0002c0002a0003c0004a0003c0023 | a0002c0002t0001a0003c0004t0001a0003c0004t0004others(1): Show | a0002c0002t0001g0184a0002c0002t0001g0213a0002c0002t0001g0214others(3): Show | 6 | 380 | 0.0158 | 1 | c.74- others(5): Show |
GPATCH1 | ENSG00000076650.7 | transcript | ENST00000170564.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GPATCH1_chr19_33076181_33135542 | 33106694 | G | A | splice_acceptor_variant others(1): Show |
HIGH | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 380 | 0.0026 | 0 | c.108 others(6): Show |
GPATCH1 | ENSG00000076650.7 | transcript | ENST00000170564.7 | protein_coding | 9/19 | chr19 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57246293 | TATGCAGA others(17): Show |
T | frameshift_variant others(3): Show |
HIGH | NA18939.hp1 | a0004 | a0004c0010 | a0004c0010t0009 | a0004c0010t0009g0033 | 1 | 290 | 0.0035 | -24 | c.479 others(33): Show |
p.Glu others(5): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 7/12 | 479/1422 | 160/473 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
GPC6_chr13_93221807_94413020 | 94382402 | T | TTTCTTGA others(3): Show |
splice_acceptor_variant others(1): Show |
HIGH | NA19091.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0011 | 1 | 76 | 0.0132 | 10 | c.115 others(24): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GREB1_chr2_11529045_11647788 | 11638660 | TTCTTTTT others(34): Show |
T | frameshift_variant others(3): Show |
HIGH | HG01175.hp1 | a0040 | a0040c0072 | a0040c0072t0058 | a0040c0072t0058g0111 | 1 | 308 | 0.0033 | -41 | c.554 others(53): Show |
p.Ile others(6): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 32/33 | 5548/5850 | 1850/1949 | chr2 | TogoVar | |||
GRIFIN_chr7_2469728_2481398 | 2475830 | T | G | splice_acceptor_variant others(1): Show |
HIGH | NA18972.hp2 NA18983.hp2 NA19068.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 3 | 380 | 0.0079 | 0 | c.93- others(4): Show |
GRIFIN | ENSG00000275572.2 | transcript | ENST00000614228.2 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
GSDMB_chr17_39899595_39923635 | 39908216 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0014others(47): Show | 125 | 400 | 0.3125 | 0 | c.662 others(5): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 5/10 | chr17 | TogoVar | ||||||
GSDMC_chr8_129743196_129791624 | 129777593 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0251 | 1 | 416 | 0.0024 | 0 | c.-4- others(4): Show |
GSDMC | ENSG00000147697.10 | transcript | ENST00000276708.9 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
GSTM3_chr1_109728937_109746038 | 109740512 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG02647.hp2 HG02809.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0020a0001c0001t0029others(1): Show | a0001c0001t0014g0040a0001c0001t0020g0018a0001c0001t0029g0039others(1): Show | 6 | 400 | 0.0150 | 0 | c.-22 others(6): Show |
GSTM3 | ENSG00000134202.12 | transcript | ENST00000361066.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
GYPC_chr2_126651158_126701667 | 126691222 | GAGGCTTG others(3578): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG01934.hp1 HG02300.hp1 |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0322a0005c0007t0002g0326 | 2 | 416 | 0.0048 | -3585 | c.106 others(15): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HAUS7_chrX_153442668_153475576 | 153447909 | GC | G | splice_acceptor_variant others(1): Show |
HIGH | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0114 | 1 | 321 | 0.0031 | -1 | c.104 others(7): Show |
HAUS7 | ENSG00000213397.12 | transcript | ENST00000370211.10 | protein_coding | 9/9 | chrX | TogoVar | ||||||
HBB_chr11_5220464_5232071 | 5226800 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 488 | 0.0021 | 0 | c.93- others(4): Show |
HBB | ENSG00000244734.4 | transcript | ENST00000335295.4 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
HBG2_chr11_5248188_5259781 | 5249028 | CGACCATA others(4913): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG01123.hp1 HG02132.hp2 |
a0000 | a0000c0002 | a0000c0002t0003 | a0000c0002t0003g0019 | 2 | 430 | 0.0047 | -4920 | c.315 others(13): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
HBG2_chr11_5248188_5259781 | 5249253 | CCCCAACC others(4917): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02004.hp2 | a0000 | a0000c0002 | a0000c0002t0003 | a0000c0002t0003g0040 | 1 | 430 | 0.0023 | -4924 | c.315 others(13): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
HBZ_chr16_147644_159503 | 154121 | GGCGGGAC others(5375): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG03834.hp2 | a0000 | a0000c0006 | a0000c0006t0005 | a0000c0006t0005g0055 | 1 | 432 | 0.0023 | -5382 | c.300 others(12): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HDAC10_chr22_50240183_50256265 | 50249430 | GCGGTGCC others(58): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | NA19072.hp2 | a0009 | a0009c0025 | a0009c0025t0002 | a0009c0025t0002g0044 | 1 | 448 | 0.0022 | -65 | c.564 others(75): Show |
p.Val others(13): Show |
HDAC10 | ENSG00000100429.18 | transcript | ENST00000216271.10 | protein_coding | 7/20 | 820/2567 | 564/2010 | 188/669 | chr22 | TogoVar | ||
HEATR4_chr14_73473484_73563947 | 73529735 | GTGTGCTA others(27720): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(93): Show |
a0001a0009a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0008others(5): Show | a0001c0001t0002g0163a0001c0001t0002g0194a0001c0001t0002g0205others(92): Show | 96 | 368 | 0.2609 | -27727 | c.-15 others(17): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/18 | chr14 | TogoVar | ||||||
HEATR9_chr17_35849955_35873891 | 35864891 | C | CTGTGTGA others(28): Show |
splice_acceptor_variant others(1): Show |
HIGH | NA18968.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 379 | 0.0026 | 35 | c.321 others(47): Show |
HEATR9 | ENSG00000270379.6 | transcript | ENST00000604834.6 | protein_coding | 3/14 | chr17 | TogoVar | ||||||
HEXA_chr15_72335924_72381014 | 72351235 | C | A | splice_acceptor_variant others(1): Show |
HIGH | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 354 | 0.0028 | 0 | c.571 others(5): Show |
HEXA | ENSG00000213614.11 | transcript | ENST00000268097.10 | protein_coding | 5/13 | chr15 | TogoVar | ||||||
HHIPL2_chr1_222517264_222553104 | 222532113 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG02027.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0212 | 1 | 418 | 0.0024 | 0 | c.157 others(6): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HID1_chr17_74945742_74977759 | 74963082 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006a0001c0019 | a0001c0001t0001a0001c0006t0001a0001c0019t0002 | a0001c0001t0001g0187a0001c0006t0001g0020a0001c0006t0001g0021others(3): Show | 11 | 364 | 0.0302 | 0 | c.388 others(5): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3/18 | chr17 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75582153 | T | C | splice_acceptor_variant others(1): Show |
HIGH | NA20300.hp2 | a0001 | a0001c0014 | a0001c0014t0026 | a0001c0014t0026g0015 | 1 | 254 | 0.0039 | 0 | c.466 others(5): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 5/30 | chr7 | TogoVar | ||||||
HMGXB3_chr5_149995739_150058128 | 150010109 | A | C | splice_acceptor_variant others(1): Show |
HIGH | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 | 1 | 380 | 0.0026 | 0 | c.313 others(5): Show |
HMGXB3 | ENSG00000113716.13 | transcript | ENST00000502717.6 | protein_coding | 3/19 | chr5 | TogoVar | ||||||
HMMR_chr5_163455632_163496941 | 163483018 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 406 | 0.0025 | 0 | c.153 others(6): Show |
HMMR | ENSG00000072571.20 | transcript | ENST00000393915.9 | protein_coding | 13/17 | chr5 | TogoVar |