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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGPS_chr2_177387773_177548834 | 177453985 | C | CCCCCTCT others(308): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0164 | 1 | 258 | 0.0039 | 315 | c.871 others(332): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129426721 | T | TAAATAGT others(308): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0120 | 1 | 292 | 0.0034 | 315 | c.182 others(332): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3670865 | T | TAGAAGGG others(308): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01515.hp2 NA18906.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0002a0003c0003t0002 | a0001c0001t0002g0143 a0002c0002t0002g0057 a0002c0002t0002g0212 others(1): Show |
4 | 274 | 0.0146 | 315 | c.-62 others(330): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AMMECR1L_chr2_127856630_127890956 | 127881318 | T | TGAGACTG others(308): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 334 | 0.0030 | 315 | c.-39 others(332): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38570972 | T | TATATATA others(308): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0138 | 1 | 288 | 0.0035 | 315 | c.70- others(332): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113097093 | T | TCACTTTT others(308): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01175.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 others(18): Show |
21 | 178 | 0.1180 | 315 | c.84+ others(332): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANLN_chr7_36384862_36458791 | 36394633 | T | TAAGAAGA others(308): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0287 others(46): Show |
52 | 408 | 0.1275 | 315 | c.19- others(330): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60365044 | A | ATGGCAGT others(308): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0255 |
2 | 334 | 0.0060 | 315 | c.149 others(330): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128442 | G | GCACTGCA others(308): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0114 | 1 | 406 | 0.0025 | 315 | c.806 others(330): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128514 | A | AGCTCCGA others(308): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0369 | 1 | 406 | 0.0025 | 315 | c.806 others(330): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
APBA3_chr19_3745772_3766692 | 3762006 | A | AGACCCTG others(308): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 HG03130.hp2 |
a0011 | a0011c0014 | a0011c0014t0002 | a0011c0014t0002g0032 | 2 | 450 | 0.0044 | 315 | c.-50 others(324): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 315 | chr19 | TogoVar | |||||||
API5_chr11_43306996_43349529 | 43310873 | A | AATATATA others(308): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG03225.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 a0001c0001t0003g0211 a0001c0001t0003g0212 others(1): Show |
4 | 384 | 0.0104 | 315 | c.-12 others(326): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 1122 | chr11 | TogoVar | |||||||
APOC4_chr19_44937237_44950496 | 44938194 | G | GTTTTTTT others(308): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 HG03225.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0001 | a0001c0001t0002g0003 a0003c0003t0001g0003 |
2 | 398 | 0.0050 | 315 | c.-40 others(326): Show |
APOC4 | ENSG00000267467.4 | transcript | ENST00000592954.2 | protein_coding | 4042 | chr19 | TogoVar | |||||||
APOC4_chr19_44937237_44950496 | 44938194 | G | GTTTTTTT others(308): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02145.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0001 | a0001c0001t0002g0003 a0003c0003t0001g0003 |
4 | 398 | 0.0101 | 315 | c.-40 others(326): Show |
APOC4 | ENSG00000267467.4 | transcript | ENST00000592954.2 | protein_coding | 4042 | chr19 | TogoVar | |||||||
ARFGAP3_chr22_42791502_42862273 | 42818816 | T | TTCTTTCT others(308): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(53): Show |
a0001 | a0001c0003a0001c0011a0001c0015 | a0001c0003t0002a0001c0003t0008a0001c0003t0009others(2): Show | a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0036 others(51): Show |
56 | 362 | 0.1547 | 315 | c.813 others(330): Show |
ARFGAP3 | ENSG00000242247.11 | transcript | ENST00000263245.10 | protein_coding | 9/15 | chr22 | TogoVar | |||||||
ARFGAP3_chr22_42791502_42862273 | 42818816 | T | TTCTTTCT others(308): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0065 | 1 | 362 | 0.0028 | 315 | c.813 others(330): Show |
ARFGAP3 | ENSG00000242247.11 | transcript | ENST00000263245.10 | protein_coding | 9/15 | chr22 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCGTGA others(308): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0010 | 1 | 246 | 0.0041 | 315 | c.-16 others(326): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687370 | C | CCCCGTGA others(308): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 246 | 0.0041 | 315 | c.-17 others(326): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1525 | chr8 | TogoVar | |||||||
ARMH3_chr10_101840599_102061173 | 102000595 | C | CAAAAAAT others(308): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 262 | 0.0038 | 315 | c.115 others(334): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 15/25 | chr10 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3653752 | G | GCCCATCA others(308): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02080.hp2 HG02976.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0002a0002c0004t0001 | a0001c0001t0001g0080 a0001c0001t0001g0134 a0001c0001t0001g0135 others(5): Show |
8 | 394 | 0.0203 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653752 | G | GCCCATCA others(308): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 394 | 0.0025 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653799 | A | ATCCTCAC others(308): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00609.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(31): Show |
52 | 394 | 0.1320 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653799 | A | ATCCTCAC others(308): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp2 others(65): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(40): Show |
68 | 394 | 0.1726 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653799 | A | ATCCTCAC others(308): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 394 | 0.0025 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653853 | C | CCTCTGTC others(308): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0175 | 1 | 394 | 0.0025 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653862 | A | ATCCTCAC others(308): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0176 | 1 | 394 | 0.0025 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653862 | A | ATCCTCAC others(308): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(83): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(1): Show | a0002c0002t0001g0014 a0002c0002t0001g0033 a0002c0002t0001g0036 others(78): Show |
86 | 394 | 0.2183 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653862 | A | ATCCTCAC others(308): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0310 | 1 | 394 | 0.0025 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653862 | A | ATCCTCAC others(308): Show |
intron_variant | MODIFIER | NA18987.hp2 NA19091.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0255 a0002c0002t0001g0256 |
2 | 394 | 0.0051 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653862 | A | ATCCTCAC others(308): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18982.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0280 a0001c0001t0001g0282 |
3 | 394 | 0.0076 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653925 | A | ATCCTCAC others(308): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 | 1 | 394 | 0.0025 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653990 | C | CCTCACTG others(308): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0254 | 1 | 394 | 0.0025 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3653990 | C | CCTCACTG others(308): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0073 | 1 | 394 | 0.0025 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654064 | T | TTCTCCCA others(308): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0058 | 1 | 394 | 0.0025 | 315 | c.-52 others(332): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76072656 | T | TAAAACCT others(308): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 392 | 0.0026 | 315 | c.-21 others(326): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2052 | chr4 | TogoVar | |||||||
ART3_chr4_76069709_76117786 | 76072656 | T | TAAAACCT others(308): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01255.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0248 others(18): Show |
35 | 392 | 0.0893 | 315 | c.-21 others(326): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2052 | chr4 | TogoVar | |||||||
ART3_chr4_76069709_76117786 | 76072656 | T | TAAAACCT others(308): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG01243.hp2 others(23): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0036 a0001c0001t0001g0224 a0001c0001t0001g0228 others(21): Show |
26 | 392 | 0.0663 | 315 | c.-21 others(326): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2052 | chr4 | TogoVar | |||||||
ART3_chr4_76069709_76117786 | 76072656 | T | TAAAACCT others(308): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0265 | 1 | 392 | 0.0026 | 315 | c.-21 others(326): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2052 | chr4 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106251644 | A | AGGGGGAG others(308): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0011 | 1 | 358 | 0.0028 | 315 | c.479 others(332): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653993 | T | TTGTATAT others(308): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0006 | a0001c0006t0031 | a0001c0006t0031g0194 | 1 | 236 | 0.0042 | 315 | c.676 others(332): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47494500 | T | TAAAGTTA others(308): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01192.hp2 others(3): Show |
a0004a0010a0031others(1): Show | a0004c0005a0010c0012a0031c0054others(1): Show | a0004c0005t0005a0010c0012t0009a0031c0054t0001others(1): Show | a0004c0005t0005g0069 a0010c0012t0009g0002 a0010c0012t0009g0019 others(2): Show |
6 | 332 | 0.0181 | 315 | c.-38 others(332): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(308): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0045 | a0001c0045t0014 | a0001c0045t0014g0254 | 1 | 254 | 0.0039 | 315 | c.39+ others(332): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(308): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0013 | a0013c0033 | a0013c0033t0001 | a0013c0033t0001g0166 | 1 | 254 | 0.0039 | 315 | c.39+ others(332): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(308): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 254 | 0.0039 | 315 | c.39+ others(332): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112866639 | T | TTCTGGGT others(308): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03453.hp1 NA19085.hp2 others(1): Show |
a0001a0014 | a0001c0001a0001c0016a0014c0036 | a0001c0001t0001a0001c0016t0004a0014c0036t0062 | a0001c0001t0001g0146 a0001c0016t0004g0214 a0001c0016t0004g0215 others(1): Show |
4 | 254 | 0.0158 | 315 | c.299 others(334): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79303450 | G | GCAAGTAA others(308): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0039 | a0001c0039t0002 | a0001c0039t0002g0266 | 1 | 298 | 0.0034 | 315 | c.141 others(332): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375020 | G | GAGGGAGG others(308): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0171 | 1 | 184 | 0.0054 | 315 | c.784 others(330): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24837036 | G | GAAAAAAA others(308): Show |
intron_variant | MODIFIER | HG00673.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0073 | a0001c0001t0005g0222 a0001c0001t0073g0156 |
2 | 322 | 0.0062 | 315 | c.818 others(330): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24837036 | G | GAAAAAAA others(308): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG01358.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0094 a0001c0001t0001g0291 a0001c0001t0003g0034 others(10): Show |
13 | 322 | 0.0404 | 315 | c.818 others(330): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24837036 | G | GAAAAAAA others(308): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0258 | 1 | 322 | 0.0031 | 315 | c.818 others(330): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar |