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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(635): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0025 | 1 | 386 | 0.0026 | 642 | c.-46 others(653): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(635): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 370 | 0.0027 | 642 | c.-27 others(653): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(635): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 260 | 0.0039 | 642 | c.125 others(659): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124610863 | A | AGGGTGAG others(635): Show |
intron_variant | MODIFIER | HG03490.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0189 |
2 | 260 | 0.0077 | 642 | c.717 others(659): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1930460 | C | CCCCACTG others(635): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 264 | 0.0038 | 642 | c.180 others(661): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(635): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0022 | 1 | 292 | 0.0034 | 642 | c.377 others(659): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(635): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 292 | 0.0034 | 642 | c.377 others(659): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(635): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0075 | 1 | 278 | 0.0036 | 642 | c.115 others(659): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(635): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 140 | 0.0071 | 642 | c.114 others(661): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(635): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0132 | 1 | 140 | 0.0071 | 642 | c.114 others(661): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99589035 | A | ACATATAT others(635): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0205 | 1 | 364 | 0.0028 | 642 | c.394 others(657): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99589035 | A | ATATATAT others(635): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0288 | 1 | 364 | 0.0028 | 642 | c.394 others(657): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77192915 | G | GGTAGTTG others(635): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0109 | a0004c0109t0001 | a0004c0109t0001g0226 | 1 | 356 | 0.0028 | 642 | c.415 others(659): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158668243 | T | TCCCTTAC others(635): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 378 | 0.0027 | 642 | c.147 others(661): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79532331 | C | CTGCAGCC others(635): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0130 | 1 | 322 | 0.0031 | 642 | c.*47 others(653): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 3009 | chr18 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(635): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0196 | 1 | 356 | 0.0028 | 642 | c.91+ others(655): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(635): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0241 | 1 | 244 | 0.0041 | 642 | c.342 others(661): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(635): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0238 | 1 | 244 | 0.0041 | 642 | c.342 others(661): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCCTCCTC others(635): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0112 | 1 | 326 | 0.0031 | 642 | c.433 others(659): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133082572 | T | TCCTCCTC others(635): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0027 | a0001c0001t0026g0053 a0001c0001t0027g0055 |
2 | 68 | 0.0294 | 642 | c.62- others(661): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPHN1_chrX_68037344_68438495 | 68326730 | T | TGGGGGGG others(635): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 155 | 0.0065 | 642 | c.155 others(661): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(635): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 439 | 0.0023 | 642 | c.-16 others(653): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237783 | A | ATAGTATA others(635): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0004 | 1 | 439 | 0.0023 | 642 | c.-15 others(653): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1502 | chr14 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156847740 | A | AAATCTAA others(635): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02486.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(2): Show | a0001c0001t0004g0093 a0001c0001t0004g0127 a0001c0001t0004g0128 others(12): Show |
15 | 208 | 0.0721 | 642 | c.314 others(659): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156847740 | A | AAATCTAA others(635): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0167 | 1 | 208 | 0.0048 | 642 | c.314 others(659): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156847740 | A | AAATCTAA others(635): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 208 | 0.0048 | 642 | c.314 others(659): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156847740 | A | AAATCTAA others(635): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01069.hp2 others(83): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0109 others(83): Show |
86 | 208 | 0.4135 | 642 | c.314 others(659): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156847740 | A | AAATCTAA others(635): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 208 | 0.0048 | 642 | c.314 others(659): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156847740 | A | AAATCTAA others(635): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01975.hp2 HG02040.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0015others(5): Show | a0001c0001t0007g0185 a0001c0001t0008g0163 a0001c0001t0015g0027 others(12): Show |
15 | 208 | 0.0721 | 642 | c.314 others(659): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156847740 | A | AAATCTAA others(635): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 208 | 0.0048 | 642 | c.314 others(659): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156847740 | A | AAATCTAA others(635): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01934.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0106 others(1): Show |
4 | 208 | 0.0192 | 642 | c.314 others(659): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156847740 | A | AAATCTAA others(635): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 208 | 0.0048 | 642 | c.314 others(659): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
POU2F3_chr11_120235140_120324945 | 120267745 | A | AAAAAAAA others(635): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0267 | 1 | 320 | 0.0031 | 642 | c.98- others(657): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3351524 | G | GTCTCTCC others(635): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0162 | 1 | 210 | 0.0048 | 642 | c.439 others(661): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3351524 | G | GTCTCTCC others(635): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0013 | a0001c0013t0041 | a0001c0013t0041g0025 | 1 | 210 | 0.0048 | 642 | c.439 others(661): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3351524 | G | GTCTCTCC others(635): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0098 | 1 | 210 | 0.0048 | 642 | c.439 others(661): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3351524 | G | GTCTCTCC others(635): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 210 | 0.0048 | 642 | c.439 others(661): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3351524 | G | GTCTCTCC others(635): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01070.hp2 others(17): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0023a0001c0001t0035others(14): Show | a0001c0001t0001g0161 a0001c0001t0001g0183 a0001c0001t0023g0112 others(17): Show |
20 | 210 | 0.0952 | 642 | c.439 others(661): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3351524 | G | GTCTCTCC others(635): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01257.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0031a0002c0003 | a0001c0002t0006a0001c0002t0050a0001c0031t0037others(2): Show | a0001c0002t0006g0149 a0001c0002t0050g0017 a0001c0031t0037g0156 others(2): Show |
5 | 210 | 0.0238 | 642 | c.439 others(661): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3351524 | G | GTCTCTCC others(635): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01109.hp2 |
a0001a0002 | a0001c0001a0001c0012a0002c0003 | a0001c0001t0001a0001c0012t0009a0002c0003t0006 | a0001c0001t0001g0201 a0001c0012t0009g0193 a0002c0003t0006g0066 |
3 | 210 | 0.0143 | 642 | c.439 others(661): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB37_chr17_74732256_74752335 | 74733288 | A | AATGTTCA others(635): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 432 | 0.0023 | 642 | c.-39 others(653): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3967 | chr17 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251202 | A | ACCATCAT others(635): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0000 | 1 | 375 | 0.0027 | 642 | c.*45 others(653): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3187 | chr10 | TogoVar | |||||||
RXRA_chr9_134321455_134445585 | 134444377 | C | CCCTCCTT others(635): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0006 | 1 | 232 | 0.0043 | 642 | c.*77 others(653): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 3793 | chr9 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1290132 | G | GTGTCTCT others(635): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0063 | 1 | 290 | 0.0035 | 642 | c.166 others(659): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243480604 | A | ATGGATGG others(635): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 189 | 0.0053 | 642 | c.198 others(661): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439968 | C | CGGCCAGC others(635): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0117 | 1 | 370 | 0.0027 | 642 | c.284 others(661): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(635): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0100 | 1 | 150 | 0.0067 | 642 | c.77- others(659): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(635): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0064 | 1 | 158 | 0.0063 | 642 | c.22+ others(659): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(635): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 350 | 0.0029 | 642 | c.624 others(657): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(635): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02717.hp2 HG02818.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0073 a0001c0001t0001g0119 a0001c0001t0001g0120 others(1): Show |
4 | 350 | 0.0114 | 642 | c.624 others(657): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar |