| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LMBR1L_chr12_49092139_49115847 | 49095436 | TCTCAGTT others(152): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02717.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035a0001c0001t0002g0116a0001c0001t0002g0117 | 4 | 380 | 0.0105 | -159 | c.*20 others(11): Show |
LMBR1L | ENSG00000139636.16 | transcript | ENST00000267102.13 | protein_coding | 1702 | chr12 | TogoVar | ||||||
| LOC400499_chr16_11367015_11532247 | 11493905 | GGGGCAGT others(152): Show |
G | intron_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0151 | 1 | 310 | 0.0032 | -159 | c.143 others(17): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | ||||||
| LRCOL1_chr12_132598151_132615582 | 132598478 | CCCTCCTC others(152): Show |
C | downstream_gene_variant | MODIFIER | NA18967.hp1 NA18977.hp1 NA18986.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0020a0003c0003t0001g0026a0003c0003t0001g0063 | 4 | 390 | 0.0103 | -159 | c.*47 others(11): Show |
LRCOL1 | ENSG00000204583.10 | transcript | ENST00000376608.9 | protein_coding | 4672 | chr12 | TogoVar | ||||||
| LRP12_chr8_104484236_104594258 | 104548229 | TTTATATT others(152): Show |
T | intron_variant | MODIFIER | HG01884.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0262a0001c0001t0006g0268 | 2 | 318 | 0.0063 | -159 | c.80- others(17): Show |
LRP12 | ENSG00000147650.12 | transcript | ENST00000276654.10 | protein_coding | 1/6 | chr8 | TogoVar | ||||||
| LRPAP1_chr4_3498612_3537422 | 3511790 | AGAGCCGG others(152): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03834.hp1 | a0007 | a0007c0010 | a0007c0010t0082 | a0007c0010t0082g0061 | 1 | 420 | 0.0024 | -159 | c.*10 others(11): Show |
LRPAP1 | ENSG00000163956.13 | transcript | ENST00000650182.1 | protein_coding | 8/8 | 1025 | chr4 | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 2058027 | GAGAGGAG others(152): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0076 | 1 | 264 | 0.0038 | -159 | c.121 others(21): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | ||||||
| MBD3L4_chr19_7032749_7045179 | 7035038 | AATTATAT others(152): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02486.hp1 others(3): Show |
a0003a0004a0007others(1): Show | a0003c0003a0004c0004a0007c0008others(1): Show | a0003c0003t0002a0004c0004t0002a0007c0008t0001others(1): Show | a0003c0003t0002g0003a0004c0004t0002g0013a0007c0008t0001g0024others(2): Show | 6 | 262 | 0.0229 | -159 | c.*26 others(11): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2710 | chr19 | TogoVar | ||||||
| MBD3L5_chr19_7025578_7038011 | 7035038 | AATTATAT others(152): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01358.hp1 others(12): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0014a0002c0008others(3): Show | a0001c0001t0002a0001c0014t0002a0002c0008t0002others(3): Show | a0001c0001t0002g0005a0001c0001t0002g0009a0001c0001t0002g0014others(7): Show | 15 | 249 | 0.0602 | -159 | c.*21 others(11): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2028 | chr19 | TogoVar | ||||||
| MBP_chr18_76973833_77137783 | 77018465 | TCATCCAT others(152): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0006 | 1 | 396 | 0.0025 | -159 | c.140 others(17): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
| MRPL21_chr11_68886278_68908832 | 68892160 | TTCACGCG others(152): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02976.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0041 | 2 | 395 | 0.0051 | -159 | c.553 others(15): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 6/6 | chr11 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8543717 | GTGGTGGT others(152): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0257 | 1 | 342 | 0.0029 | -159 | c.152 others(17): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8543744 | CTGGTGGT others(152): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 342 | 0.0029 | -159 | c.152 others(17): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64176174 | TCTCCTGT others(152): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0072a0001c0001t0008g0127 | 2 | 223 | 0.0090 | -159 | c.-99 others(19): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NEU4_chr2_241804193_241822413 | 241805206 | ACCTTCCC others(152): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0110 | 1 | 319 | 0.0031 | -159 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3986 | chr2 | TogoVar | ||||||
| NLK_chr17_28037677_28201381 | 28170338 | CTGACTAC others(152): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | 108 | 0.0185 | -159 | c.104 others(19): Show |
NLK | ENSG00000087095.13 | transcript | ENST00000407008.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| NTN5_chr19_48656407_48678017 | 48669351 | CCATCACC others(152): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG03491.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 4 | 412 | 0.0097 | -159 | c.631 others(16): Show |
NTN5 | ENSG00000142233.14 | transcript | ENST00000270235.11 | protein_coding | 2/6 | chr19 | TogoVar | ||||||
| PAM_chr5_102750305_103034716 | 102988233 | CCACTTCT others(152): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0184a0001c0001t0002g0022a0001c0001t0002g0024others(5): Show | 8 | 188 | 0.0426 | -159 | c.148 others(19): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 759178 | CTTCTCCT others(152): Show |
C | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0223 | 1 | 366 | 0.0027 | -159 | c.463 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 759291 | CTCCGGAC others(152): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0332 | 1 | 366 | 0.0027 | -159 | c.463 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 759337 | GTTCTCCT others(152): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00733.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0059others(1): Show | a0001c0001t0002g0148a0001c0001t0002g0149a0001c0001t0002g0150others(30): Show | 33 | 366 | 0.0902 | -159 | c.463 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 759566 | CGGGTCTT others(152): Show |
C | intron_variant | MODIFIER | HG02071.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044a0001c0001t0003g0045 | 2 | 366 | 0.0055 | -159 | c.463 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 759708 | CTTCTCCT others(152): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0352 | 1 | 366 | 0.0027 | -159 | c.463 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PEX5_chr12_7184686_7216459 | 7196792 | ATTATATA others(152): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01169.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0081a0001c0001t0001g0082 | 3 | 428 | 0.0070 | -159 | c.449 others(17): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PLCXD1_chrX_276381_308356 | 280942 | AGGCCGTG others(152): Show |
A | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0010 | a0001c0010t0042 | a0001c0010t0042g0163 | 1 | 176 | 0.0057 | -159 | c.-76 others(9): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 438 | chrX | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 101503 | GAAAAGCC others(152): Show |
G | intron_variant | MODIFIER | HG02083.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0087 | 1 | 210 | 0.0048 | -159 | c.45+ others(15): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PLEKHG4B_chr5_87168_194966 | 101777 | GTAGGGGA others(152): Show |
G | intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0005 | a0002c0005t0129 | a0002c0005t0129g0043 | 1 | 210 | 0.0048 | -159 | c.45+ others(15): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PNRC2_chr1_23954828_23968462 | 23964009 | AAAATGCT others(152): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 412 | 0.0024 | -159 | c.*21 others(11): Show |
PNRC2 | ENSG00000189266.13 | transcript | ENST00000334351.8 | protein_coding | 548 | chr1 | TogoVar | ||||||
| PRDM15_chr21_41793225_41884344 | 41806018 | TCACCACC others(152): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0058 | a0001c0058t0042 | a0001c0058t0042g0068 | 1 | 406 | 0.0025 | -159 | c.265 others(19): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151874366 | TATGTATA others(152): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp1 HG01361.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(1): Show | a0001c0001t0004g0242a0001c0001t0004g0244a0001c0001t0005g0223others(3): Show | 6 | 252 | 0.0238 | -159 | c.114 others(17): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66798540 | CGGTGGTG others(152): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0143 | 1 | 178 | 0.0056 | -159 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAB27B_chr18_54823477_54900516 | 54891266 | TAATAATT others(152): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02965.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0119a0001c0001t0018g0134 | 2 | 334 | 0.0060 | -159 | c.*18 others(11): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 6/6 | 1857 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
| RB1_chr13_48298751_48486890 | 48427171 | ATCTACCA others(152): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02145.hp2 others(14): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0201a0001c0001t0001g0204a0001c0001t0001g0206others(14): Show | 17 | 306 | 0.0556 | -159 | c.169 others(21): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| RBM26_chr13_79313868_79411255 | 79372870 | TATAATAT others(152): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(166): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0075a0001c0001t0002g0006a0001c0001t0002g0007others(160): Show | 169 | 328 | 0.5152 | -159 | c.328 others(16): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 3/21 | chr13 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3309063 | AGAGGAGC others(152): Show |
A | intron_variant | MODIFIER | HG02004.hp2 HG02132.hp1 HG02602.hp2 others(6): Show |
a0001a0006 | a0001c0002a0001c0003a0006c0015others(1): Show | a0001c0002t0001a0001c0003t0001a0006c0015t0002others(1): Show | a0001c0002t0001g0164a0001c0003t0001g0283a0001c0003t0001g0284others(6): Show | 9 | 312 | 0.0289 | -159 | c.-10 others(19): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RGS12_chr4_3288021_3444913 | 3309521 | TCTGAGGA others(152): Show |
T | intron_variant | MODIFIER | HG02004.hp2 HG02132.hp1 HG02683.hp2 others(4): Show |
a0001a0006 | a0001c0002a0006c0015a0006c0046 | a0001c0002t0001a0006c0015t0002a0006c0046t0002 | a0001c0002t0001g0164a0006c0015t0002g0092a0006c0015t0002g0095others(4): Show | 7 | 312 | 0.0224 | -159 | c.-10 others(19): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RPAP2_chr1_92294059_92407056 | 92384930 | GCTTGAGC others(152): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0028 | a0001c0028t0061 | a0001c0028t0061g0036 | 1 | 192 | 0.0052 | -159 | c.183 others(19): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1289832 | TCTGCCCC others(152): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0157 | 1 | 290 | 0.0035 | -159 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1289837 | CCCGTCCC others(152): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0028 | a0002c0028t0001 | a0002c0028t0001g0093 | 1 | 290 | 0.0035 | -159 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SH3RF3_chr2_109124205_109509634 | 109186996 | TCCCAGAG others(152): Show |
T | intron_variant | MODIFIER | HG02074.hp2 HG02165.hp2 HG03942.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0019a0003c0006others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0019t0004others(2): Show | a0001c0001t0005g0063a0001c0001t0006g0060a0001c0019t0004g0059others(2): Show | 5 | 172 | 0.0291 | -159 | c.573 others(19): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SLC12A7_chr5_1045384_1117063 | 1072596 | GCCCCCAG others(152): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0064 | 1 | 118 | 0.0085 | -159 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SLC6A19_chr5_1196595_1230111 | 1197350 | GTGGCAGT others(152): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(133): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0045a0001c0001t0001g0084a0001c0001t0001g0087others(116): Show | 136 | 458 | 0.2969 | -159 | c.-43 others(11): Show |
SLC6A19 | ENSG00000174358.16 | transcript | ENST00000304460.11 | protein_coding | 4244 | chr5 | TogoVar | ||||||
| SLC7A1_chr13_29504414_29600688 | 29558672 | AGGGGGAG others(152): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01928.hp1 HG02015.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0019others(1): Show | a0001c0001t0001g0148a0001c0002t0004g0137a0001c0002t0004g0139others(6): Show | 9 | 330 | 0.0273 | -159 | c.-11 others(19): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
| SLC7A1_chr13_29504414_29600688 | 29558939 | AGAATGTG others(152): Show |
A | intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0313 | 1 | 330 | 0.0030 | -159 | c.-11 others(19): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168594236 | CGAGCTCC others(152): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0069 | 1 | 180 | 0.0056 | -159 | c.638 others(17): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SNX9_chr6_157818246_157950077 | 157827356 | TTATAGTT others(152): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0294a0001c0001t0005g0295 | 2 | 302 | 0.0066 | -159 | c.12+ others(15): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SPTSSA_chr14_34427788_34467240 | 34443198 | GGTGTGTG others(152): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01978.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0215a0001c0001t0001g0265others(3): Show | 7 | 344 | 0.0204 | -159 | c.113 others(17): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| SPTSSA_chr14_34427788_34467240 | 34443355 | AGTGTGTG others(152): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 344 | 0.0029 | -159 | c.113 others(17): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| SRBD1_chr2_45383680_45616267 | 45414923 | GTACACAC others(152): Show |
G | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345 | 1 | 358 | 0.0028 | -159 | c.233 others(19): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | ||||||
| SRSF10_chr1_23959347_23985327 | 23964009 | AAAATGCT others(152): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 384 | 0.0026 | -159 | c.*69 others(11): Show |
SRSF10 | ENSG00000188529.15 | transcript | ENST00000492112.3 | protein_coding | 337 | chr1 | TogoVar | ||||||
| STYXL2_chr1_167089075_167134165 | 167113890 | GCCTCTCA others(152): Show |
G | intron_variant | MODIFIER | NA18946.hp2 | a0018 | a0018c0019 | a0018c0019t0001 | a0018c0019t0001g0072 | 1 | 362 | 0.0028 | -159 | c.205 others(14): Show |
STYXL2 | ENSG00000198842.10 | transcript | ENST00000361200.7 | protein_coding | 3/5 | chr1 | TogoVar |