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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIGIRR_chr11_400716_419999 | 411476 | A | AGGGGGGG others(201): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03654.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0173 a0004c0007t0001g0174 |
2 | 67 | 0.0299 | 208 | c.-15 others(227): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 411476 | A | AGGGGGGT others(201): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 66 | 0.0152 | 208 | c.-15 others(227): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 411476 | A | AGGGGGGT others(201): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01175.hp1 HG01175.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(17): Show |
20 | 85 | 0.2353 | 208 | c.-15 others(227): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48270750 | G | GTATATAT others(201): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18997.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0193 a0001c0002t0001g0143 |
2 | 167 | 0.0120 | 208 | c.240 others(227): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48270750 | G | GTATATAT others(201): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0195 | 1 | 166 | 0.0060 | 208 | c.240 others(227): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6429421 | A | AAGGAAGA others(201): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 285 | 0.0035 | 208 | c.624 others(223): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC27A5_chr19_58493333_58516992 | 58502464 | C | CAGAGTAG others(201): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 415 | 0.0024 | 208 | c.105 others(227): Show |
SLC27A5 | ENSG00000083807.10 | transcript | ENST00000263093.7 | protein_coding | 3/9 | chr19 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234140002 | A | AATAAAAT others(201): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 140 | 0.0071 | 208 | c.284 others(227): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203446 | A | AGGGAGAG others(201): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0005 | a0005c0025 | a0005c0025t0024 | a0005c0025t0024g0106 | 1 | 116 | 0.0086 | 208 | c.*81 others(219): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3727 | chr8 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200177 | T | TATATATA others(201): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0140 | a0001c0001t0140g0030 | 1 | 193 | 0.0052 | 208 | c.180 others(229): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200192 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0183 | a0001c0001t0183g0232 | 1 | 110 | 0.0091 | 208 | c.180 others(229): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200194 | A | ATATATAT others(201): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0062 | 1 | 185 | 0.0054 | 208 | c.180 others(229): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 495377 | G | GCTCCGCG others(201): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0188 | 1 | 32 | 0.0313 | 208 | c.212 others(225): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 495377 | G | GCTCCGCG others(201): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG02004.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0066 a0002c0002t0002g0005 a0002c0002t0002g0008 others(1): Show |
4 | 35 | 0.1143 | 208 | c.212 others(225): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 507780 | A | ACCCCACA others(201): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0010 | a0002c0010t0003 | a0002c0010t0003g0201 | 1 | 216 | 0.0046 | 208 | c.212 others(227): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20472555 | G | GATATATC others(201): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01256.hp1 HG01516.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0002t0009 | a0001c0001t0005g0057 a0001c0001t0006g0145 a0001c0002t0009g0102 |
3 | 96 | 0.0313 | 208 | c.467 others(225): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560505 | T | TGAGGCTC others(201): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 163 | 0.0061 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560733 | T | TGGAGGAG others(201): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 123 | 0.0081 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560785 | T | TGGAGGAG others(201): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 118 | 0.0085 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560870 | G | GAGGCTCT others(201): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 161 | 0.0062 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560910 | A | ACCCTGAG others(201): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 103 | 0.0097 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560921 | C | CAAGGCTC others(201): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 | 1 | 176 | 0.0057 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168560941 | T | TGGAGGAG others(201): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 156 | 0.0064 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561040 | G | GTTCTTGG others(201): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 154 | 0.0065 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561097 | T | TGGAGGAG others(201): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 147 | 0.0068 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561130 | G | GAGGCTCT others(201): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 170 | 0.0059 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561300 | G | GTTCTTGG others(201): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 146 | 0.0068 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561390 | G | GAGGCTTT others(201): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0045 | 1 | 150 | 0.0067 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561409 | T | TGGAGGAG others(201): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01978.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 a0001c0002t0002g0025 |
2 | 141 | 0.0142 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561442 | G | GAGGCTCT others(201): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 163 | 0.0061 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561669 | C | CGGAGGAG others(201): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024 | 1 | 163 | 0.0061 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168562013 | C | CGAGGCTC others(201): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 177 | 0.0056 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168562033 | T | TGGAGGAG others(201): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 112 | 0.0089 | 208 | c.637 others(227): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246484699 | T | TTGTACTA others(201): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0002g0063 others(3): Show |
6 | 102 | 0.0588 | 208 | c.164 others(227): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1221480 | T | TCTGTCTC others(201): Show |
intron_variant | MODIFIER | HG02300.hp2 HG02976.hp1 HG03579.hp1 others(1): Show |
a0004a0012 | a0004c0004a0012c0019 | a0004c0004t0001a0012c0019t0001 | a0004c0004t0001g0047 a0004c0004t0001g0124 a0004c0004t0001g0142 others(1): Show |
4 | 187 | 0.0214 | 208 | c.719 others(227): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX12_chrX_71054247_71073334 | 71071574 | A | ATATATAT others(201): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01168.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0004g0012 others(1): Show |
4 | 233 | 0.0172 | 208 | c.-32 others(219): Show |
SNX12 | ENSG00000147164.12 | transcript | ENST00000374274.8 | protein_coding | 3241 | chrX | TogoVar | |||||||
SNX12_chrX_71054247_71073334 | 71071604 | T | ATATATAT others(201): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01123.hp1 HG01175.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 others(1): Show |
8 | 274 | 0.0292 | 208 | c.-32 others(219): Show |
SNX12 | ENSG00000147164.12 | transcript | ENST00000374274.8 | protein_coding | 3270 | chrX | TogoVar | |||||||
SNX6_chr14_34556093_34635148 | 34557555 | T | TCTTCTTC others(201): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 289 | 0.0035 | 208 | c.*55 others(219): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3537 | chr14 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827465 | A | ATATATAT others(201): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0009t0006 | a0001c0001t0004g0280 a0001c0009t0006g0061 |
2 | 213 | 0.0094 | 208 | c.12+ others(223): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(201): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0265 | 1 | 82 | 0.0122 | 208 | c.12+ others(223): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(201): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0271 | 1 | 82 | 0.0122 | 208 | c.12+ others(223): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SOAT1_chr1_179288797_179363680 | 179353211 | A | ATATATAT others(201): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0198 | 1 | 85 | 0.0118 | 208 | c.159 others(225): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7448836 | T | TTCCCTCC others(201): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0077 | 1 | 150 | 0.0067 | 208 | c.548 others(227): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7448836 | T | TTCCCTCC others(201): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 150 | 0.0067 | 208 | c.548 others(227): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7448836 | T | TTCCCTCC others(201): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01934.hp2 others(1): Show |
a0001a0013 | a0001c0001a0001c0002a0013c0055 | a0001c0001t0024a0001c0002t0003a0013c0055t0006 | a0001c0001t0024g0071 a0001c0001t0024g0072 a0001c0002t0003g0082 others(1): Show |
4 | 153 | 0.0261 | 208 | c.548 others(227): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24189953 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0173 | 1 | 35 | 0.0286 | 208 | c.-11 others(229): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24189953 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0306 | 1 | 35 | 0.0286 | 208 | c.-11 others(229): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24189953 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | HG00735.hp2 HG04199.hp1 NA18964.hp2 others(4): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0002t0008a0001c0003t0017others(3): Show | a0001c0002t0001g0176 a0001c0002t0008g0116 a0001c0003t0017g0307 others(4): Show |
7 | 41 | 0.1707 | 208 | c.-11 others(229): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24189953 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0315 | 1 | 35 | 0.0286 | 208 | c.-11 others(229): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(201): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01071.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0052 a0001c0001t0002g0002 |
4 | 21 | 0.1905 | 208 | c.*54 others(219): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar |