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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA13_chr13_24155720_24312069 | 24183289 | GAGGATAG others(6): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0006 | a0001c0006t0050 | a0001c0006t0050g0017 | 1 | 354 | 0.0028 | -13 | c.-11 others(34): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173140345 | ATTTTATG others(6): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp1 HG02809.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 others(2): Show |
5 | 198 | 0.0253 | -13 | c.-19 others(28): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217704230 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 58 | 0.0172 | -13 | c.395 others(32): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217744462 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01099.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0126 a0001c0001t0001g0209 a0001c0001t0006g0096 others(10): Show |
13 | 161 | 0.0807 | -13 | c.519 others(30): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217770978 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0237 | 1 | 25 | 0.0400 | -13 | c.520 others(30): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52047802 | TATTTATT others(6): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 306 | 0.0033 | -13 | c.-39 others(24): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 3501 | chr4 | TogoVar | |||||||
SPATA1_chr1_84501386_84572379 | 84560096 | AAAAAGAA others(6): Show |
A | intron_variant | MODIFIER | NA18962.hp1 NA19057.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0002c0002t0007 | a0001c0003t0004g0052 a0002c0002t0007g0021 |
2 | 310 | 0.0065 | -13 | c.129 others(32): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA2L_chr16_89691357_89706705 | 89701461 | ACCTCCAG others(6): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0128 | 1 | 416 | 0.0024 | -13 | c.-2+ others(26): Show |
SPATA2L | ENSG00000158792.16 | transcript | ENST00000289805.10 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
SPATA31D3_chr9_81938500_81955093 | 81945273 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0005others(2): Show | a0001c0001t0001g0007 a0002c0002t0001g0007 a0003c0003t0005g0007 others(2): Show |
16 | 79 | 0.2025 | -13 | c.293 others(26): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50108635 | ATGATGAC others(6): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 326 | 0.0031 | -13 | c.651 others(30): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123017414 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(151): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0005a0006c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0050 others(151): Show |
154 | 168 | 0.9167 | -13 | c.187 others(34): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123311625 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 NA18963.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0001g0193 a0001c0001t0008g0017 a0001c0001t0008g0091 others(6): Show |
9 | 58 | 0.1552 | -13 | c.250 others(32): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123317736 | GGAATACT others(6): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0081 | 1 | 260 | 0.0038 | -13 | c.*36 others(24): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 16/16 | 3673 | chr4 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4644183 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0099 | 1 | 45 | 0.0222 | -13 | c.227 others(30): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48340241 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01168.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 others(7): Show |
10 | 33 | 0.3030 | -13 | c.119 others(34): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 11/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48418544 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0003 | 1 | 29 | 0.0345 | -13 | c.239 others(30): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATS1_chr6_44337650_44385179 | 44364712 | CTCTTTCT others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0004 | a0004c0009 | a0004c0009t0004 | a0004c0009t0004g0150 | 1 | 390 | 0.0026 | -13 | c.574 others(30): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396034 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 277 | 0.0036 | -13 | c.39+ others(28): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
SPATS2L_chr2_200301693_200487264 | 200426082 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 54 | 0.0185 | -13 | c.445 others(30): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200477213 | TTTTCTGT others(6): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0010 | a0001c0010t0065 | a0001c0010t0065g0004 | 1 | 298 | 0.0034 | -13 | c.128 others(30): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49375180 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0149 others(5): Show |
8 | 156 | 0.0513 | -13 | c.-24 others(32): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
SPATS2_chr12_49362462_49532425 | 49435638 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0044 | 1 | 72 | 0.0139 | -13 | c.-24 others(34): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49442785 | TTAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(24): Show |
27 | 99 | 0.2727 | -13 | c.-24 others(34): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
SPATS2_chr12_49362462_49532425 | 49442786 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0103 |
2 | 90 | 0.0222 | -13 | c.-24 others(34): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49492212 | CTTTTTTC others(6): Show |
C | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 156 | 0.0064 | -13 | c.264 others(30): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49516155 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0002g0057 others(1): Show |
4 | 144 | 0.0278 | -13 | c.898 others(30): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49532301 | TGCCACCA others(6): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0149 a0001c0001t0002g0150 others(3): Show |
6 | 156 | 0.0385 | -13 | c.*60 others(24): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 4877 | chr12 | TogoVar | |||||||
SPDYA_chr2_28805834_28855610 | 28819848 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 293 | 0.0034 | -13 | c.294 others(28): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28819850 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02129.hp1 HG02523.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0007 a0001c0001t0001g0283 a0001c0001t0001g0295 others(2): Show |
5 | 295 | 0.0169 | -13 | c.294 others(28): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | chr2 | TogoVar | |||||||
SPDYA_chr2_28805834_28855610 | 28823732 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 336 | 0.0030 | -13 | c.380 others(30): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28837742 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(159): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(154): Show |
162 | 220 | 0.7364 | -13 | c.553 others(30): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYC_chr11_65165233_65178374 | 65166391 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 |
7 | 111 | 0.0631 | -13 | c.-39 others(24): Show |
SPDYC | ENSG00000204710.3 | transcript | ENST00000377185.3 | protein_coding | 3841 | chr11 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73126720 | CAGGCTGG others(6): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 216 | 0.0046 | -13 | c.-63 others(34): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74903207 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0041 | 1 | 348 | 0.0029 | -13 | c.*25 others(24): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 1081 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74912770 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 8 | 0.1250 | -13 | c.130 others(28): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPDYE17_chr7_77017306_77037361 | 77036215 | TATGTGTG others(6): Show |
T | upstream_gene_variant | MODIFIER | HG03209.hp1 NA18983.hp1 NA18988.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0004a0003c0003t0008 | a0002c0002t0004g0039 a0003c0003t0008g0025 a0003c0003t0008g0040 others(2): Show |
6 | 241 | 0.0249 | -13 | c.-44 others(24): Show |
SPDYE17 | ENSG00000186645.11 | transcript | ENST00000671986.3 | protein_coding | 3855 | chr7 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77048672 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01517.hp2 NA18959.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0039 a0001c0001t0001g0136 a0001c0001t0001g0144 others(3): Show |
6 | 184 | 0.0326 | -13 | c.*32 others(24): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 1718 | chr7 | TogoVar | |||||||
SPDYE1_chr7_43992897_44015124 | 43994857 | GCCACCAA others(6): Show |
G | upstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 392 | 0.0026 | -13 | c.-35 others(24): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 3039 | chr7 | TogoVar | |||||||
SPDYE21_chr7_67271941_67294005 | 67274831 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01070.hp2 others(18): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0006a0004c0004t0004 | a0001c0001t0006g0009 a0001c0001t0006g0146 a0004c0004t0004g0007 others(5): Show |
21 | 64 | 0.3281 | -13 | c.-26 others(24): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 2109 | chr7 | TogoVar | |||||||
SPDYE21_chr7_67271941_67294005 | 67280691 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0094 | 1 | 55 | 0.0182 | -13 | c.380 others(28): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2_chr7_102546226_102568538 | 102555248 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02109.hp1 HG02451.hp1 others(1): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0003c0022others(1): Show | a0001c0001t0021a0003c0003t0016a0003c0022t0002others(1): Show | a0001c0001t0021g0045 a0003c0003t0016g0128 a0003c0022t0002g0099 others(1): Show |
4 | 164 | 0.0244 | -13 | c.380 others(28): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2_chr7_102546226_102568538 | 102559002 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG02071.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0015a0001c0007t0018 | a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0028 others(3): Show |
6 | 17 | 0.3529 | -13 | c.755 others(28): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE5_chr7_75487320_75509316 | 75491702 | ATTTTTTT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03139.hp1 HG06807.hp2 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0030 | 3 | 71 | 0.0423 | -13 | c.-11 others(24): Show |
SPDYE5 | ENSG00000170092.15 | transcript | ENST00000625065.4 | protein_coding | 617 | chr7 | TogoVar | |||||||
SPDYE5_chr7_75487320_75509316 | 75498110 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18968.hp1 NA19055.hp1 NA19077.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0019a0002c0002t0005 | a0001c0001t0001g0111 a0001c0001t0019g0075 a0002c0002t0005g0084 |
3 | 50 | 0.0600 | -13 | c.669 others(28): Show |
SPDYE5 | ENSG00000170092.15 | transcript | ENST00000625065.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE6_chr7_102340746_102361444 | 102350249 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0177 | 1 | 87 | 0.0115 | -13 | c.755 others(28): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
SPDYE6_chr7_102340746_102361444 | 102351914 | CACACACA others(6): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0201 | 1 | 397 | 0.0025 | -13 | c.669 others(28): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SPDYE9_chr7_73070972_73091038 | 73083734 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01993.hp2 HG02300.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(1): Show |
6 | 38 | 0.1579 | -13 | c.130 others(28): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24327277 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0011 | 1 | 144 | 0.0069 | -13 | c.214 others(32): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24383792 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03516.hp2 NA19084.hp1 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0004a0007c0011t0005 | a0001c0001t0004g0019 a0007c0011t0005g0317 |
2 | 6 | 0.3333 | -13 | c.308 others(34): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20011916 | AGATACTT others(6): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02572.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0028a0001c0001t0088others(1): Show | a0001c0001t0027g0184 a0001c0001t0027g0186 a0001c0001t0028g0185 others(3): Show |
6 | 248 | 0.0242 | -13 | c.-22 others(30): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |