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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(273): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0178 | 1 | 408 | 0.0025 | 280 | c.182 others(297): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 272984 | C | CGACATCA others(273): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0097 | 1 | 133 | 0.0075 | 280 | c.438 others(297): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273050 | G | GAGAGACC others(273): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 133 | 0.0075 | 280 | c.438 others(297): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273135 | A | AGAGACCC others(273): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0090 | 1 | 133 | 0.0075 | 280 | c.438 others(297): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273620 | A | AGCGAGGG others(273): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0088 | 1 | 133 | 0.0075 | 280 | c.438 others(297): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158228874 | A | AACACACA others(273): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 a0001c0001t0002g0272 |
2 | 276 | 0.0073 | 280 | c.494 others(299): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158228874 | A | AACACACA others(273): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02074.hp2 HG02683.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0233 a0001c0001t0002g0240 a0001c0001t0002g0242 others(6): Show |
9 | 276 | 0.0326 | 280 | c.494 others(299): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158228874 | A | AACACACA others(273): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 276 | 0.0036 | 280 | c.494 others(299): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158228874 | A | AACACACA others(273): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02132.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0091 a0001c0001t0006g0026 a0001c0001t0006g0029 |
3 | 276 | 0.0109 | 280 | c.494 others(299): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87626222 | A | ATTGTCAT others(273): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 202 | 0.0050 | 280 | c.-26 others(291): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2175 | chr7 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934288 | A | AGGGGAGG others(273): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0150 | 1 | 434 | 0.0023 | 280 | c.843 others(297): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAT1_chrX_23778173_23791210 | 23780122 | C | CACACATA others(273): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 |
7 | 330 | 0.0212 | 280 | c.-32 others(291): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 3050 | chrX | TogoVar | |||||||
SAT1_chrX_23778173_23791210 | 23780122 | C | CACACATA others(273): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 330 | 0.0030 | 280 | c.-32 others(291): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 3050 | chrX | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10249692 | T | TTTGGAAT others(273): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01515.hp2 HG02486.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0012a0004c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0221 a0001c0001t0003g0175 a0001c0001t0004g0214 others(3): Show |
6 | 224 | 0.0268 | 280 | c.55+ others(297): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76533664 | T | TAAAATTA others(273): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02451.hp2 others(7): Show |
a0001a0011 | a0001c0001a0001c0004a0011c0019 | a0001c0001t0003a0001c0004t0001a0011c0019t0001 | a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0187 others(7): Show |
10 | 312 | 0.0321 | 280 | c.283 others(301): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 23/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76533664 | T | TAAAATTA others(273): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01167.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 a0001c0001t0004g0111 a0001c0001t0004g0122 others(13): Show |
16 | 312 | 0.0513 | 280 | c.283 others(301): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 23/31 | chr15 | TogoVar | |||||||
SCLY_chr2_238056001_238104413 | 238098579 | G | GAACGCCC others(273): Show |
3_prime_UTR_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0003 | a0001c0003t0153 | a0001c0003t0153g0174 | 1 | 392 | 0.0026 | 280 | c.*22 others(289): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 12/12 | 226 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(273): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0060 | 1 | 290 | 0.0035 | 280 | c.464 others(293): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288943 | C | CCGTGTCT others(273): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 290 | 0.0035 | 280 | c.166 others(297): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289908 | T | TCCCGTGT others(273): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0018 | a0018c0035 | a0018c0035t0002 | a0018c0035t0002g0028 | 1 | 290 | 0.0035 | 280 | c.166 others(297): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCTR_chr2_119434843_119529483 | 119444874 | T | TATATACA others(273): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0118 | 1 | 290 | 0.0035 | 280 | c.114 others(299): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
SEC16B_chr1_177923788_177975058 | 177955137 | T | TAAAAAAT others(273): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0027 | a0027c0038 | a0027c0038t0001 | a0027c0038t0001g0255 | 1 | 408 | 0.0025 | 280 | c.136 others(297): Show |
SEC16B | ENSG00000120341.19 | transcript | ENST00000308284.11 | protein_coding | 10/25 | chr1 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84086471 | G | GTATTATT others(273): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0071 | 1 | 276 | 0.0036 | 280 | c.453 others(299): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SFTPB_chr2_85652314_85673199 | 85666219 | G | GTGTGTGT others(273): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 426 | 0.0024 | 280 | c.393 others(295): Show |
SFTPB | ENSG00000168878.19 | transcript | ENST00000519937.7 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151256047 | A | AGAGGGAG others(273): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 282 | 0.0036 | 280 | c.113 others(299): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44302613 | T | TAGCAGGG others(273): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01496.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0015a0001c0001t0016a0001c0001t0066others(7): Show | a0001c0001t0015g0219 a0001c0001t0016g0032 a0001c0001t0066g0231 others(8): Show |
11 | 380 | 0.0290 | 280 | c.-32 others(297): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44302857 | A | AGGGGCAA others(273): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0286 | 1 | 380 | 0.0026 | 280 | c.-32 others(297): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9791969 | G | GAGAATAG others(273): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0191 | 1 | 256 | 0.0039 | 280 | c.165 others(297): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9791969 | G | GAGAATAG others(273): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0075 | 1 | 256 | 0.0039 | 280 | c.165 others(297): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401214 | C | CCCCGCTC others(273): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 242 | 0.0041 | 280 | c.*46 others(291): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4501 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401214 | C | CCCCGCTC others(273): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0064 | 1 | 242 | 0.0041 | 280 | c.*46 others(291): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4501 | chr11 | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2282114 | G | GGATGCCC others(273): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 330 | 0.0030 | 280 | c.970 others(299): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
SLC22A12_chr11_64586220_64607344 | 64596261 | T | TGGAATGG others(273): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18947.hp1 NA18980.hp2 others(1): Show |
a0001 | a0001c0004a0001c0016 | a0001c0004t0001a0001c0016t0001 | a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0185 others(1): Show |
4 | 390 | 0.0103 | 280 | c.831 others(297): Show |
SLC22A12 | ENSG00000197891.12 | transcript | ENST00000377574.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC45A4_chr8_141202174_141313288 | 141203276 | A | AGAGAGAG others(273): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0010 | a0010c0027 | a0010c0027t0001 | a0010c0027t0001g0070 | 1 | 188 | 0.0053 | 280 | c.*82 others(291): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3897 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203505 | G | GGAGAGAG others(273): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0008 | a0004c0007t0008g0015 | 1 | 188 | 0.0053 | 280 | c.*80 others(291): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3668 | chr8 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 507665 | T | TCCCCACC others(273): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 |
2 | 218 | 0.0092 | 280 | c.212 others(299): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325271 | G | GGGGGCGG others(273): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0022 | 1 | 150 | 0.0067 | 280 | c.531 others(297): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1143707 | T | TAAAATAC others(273): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0153 | 1 | 190 | 0.0053 | 280 | c.411 others(297): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222457 | A | AGCTGGAG others(273): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0176 a0005c0006t0001g0189 |
2 | 190 | 0.0105 | 280 | c.719 others(299): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222599 | C | CTGGAGGG others(273): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0005 | 1 | 190 | 0.0053 | 280 | c.719 others(299): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222613 | T | TCGCTGTA others(273): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0017 | a0017c0036 | a0017c0036t0001 | a0017c0036t0001g0070 | 1 | 190 | 0.0053 | 280 | c.719 others(299): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222814 | G | GGTGCTGG others(273): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0131 | 1 | 190 | 0.0053 | 280 | c.719 others(299): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222839 | C | CGGCGCAG others(273): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0075 | 1 | 190 | 0.0053 | 280 | c.719 others(299): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222949 | G | GTGGAGGT others(273): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0019 | a0019c0030 | a0019c0030t0001 | a0019c0030t0001g0160 | 1 | 190 | 0.0053 | 280 | c.719 others(299): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223052 | T | TGCAGTGA others(273): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 190 | 0.0053 | 280 | c.719 others(299): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23837279 | T | TTATATTT others(273): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0083 | 1 | 212 | 0.0047 | 280 | c.481 others(297): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32110761 | A | ATATAGTA others(273): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0069 | 1 | 342 | 0.0029 | 280 | c.683 others(297): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852705 | T | TCCATCTT others(273): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0316 | 1 | 356 | 0.0028 | 280 | c.646 others(297): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852814 | G | GCATCCCA others(273): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0349 | 1 | 356 | 0.0028 | 280 | c.646 others(297): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852908 | G | GTCTTCCA others(273): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 356 | 0.0028 | 280 | c.646 others(297): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |