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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLX9_chr21_44935029_44981973 | 44947533 | GTGGCATC others(27): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0141 others(5): Show |
10 | 328 | 0.0305 | -34 | c.283 others(51): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47850481 | TTATATAT others(27): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp2 HG01975.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0189others(4): Show | a0001c0001t0002g0114 a0001c0001t0009g0101 a0001c0001t0009g0102 others(5): Show |
8 | 231 | 0.0346 | -34 | c.784 others(49): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAGP_chr12_51239558_51275415 | 51248414 | ACACACAC others(27): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02056.hp1 HG02074.hp2 others(21): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0010a0001c0002t0014 | a0001c0002t0005g0040 a0001c0002t0005g0041 a0001c0002t0005g0044 others(21): Show |
24 | 407 | 0.0590 | -34 | c.35- others(49): Show |
SMAGP | ENSG00000170545.17 | transcript | ENST00000603798.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMARCA1_chrX_129441506_129528490 | 129527239 | GGCGAGGT others(27): Show |
G | upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 277 | 0.0036 | -34 | c.-39 others(45): Show |
SMARCA1 | ENSG00000102038.16 | transcript | ENST00000371121.5 | protein_coding | 3750 | chrX | TogoVar | |||||||
SMARCC2_chr12_56157359_56194483 | 56193732 | TTTTATTT others(27): Show |
T | upstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 248 | 0.0040 | -34 | c.-43 others(45): Show |
SMARCC2 | ENSG00000139613.12 | transcript | ENST00000550164.6 | protein_coding | 4250 | chr12 | TogoVar | |||||||
SMCO4_chr11_93473472_93548391 | 93514374 | CTATATAT others(27): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(60): Show |
76 | 193 | 0.3938 | -34 | c.-15 others(55): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
SMIM12_chr1_34845362_34864749 | 34845747 | GGGACGAG others(27): Show |
G | downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 380 | 0.0026 | -34 | c.*99 others(45): Show |
SMIM12 | ENSG00000163866.9 | transcript | ENST00000521580.3 | protein_coding | 4614 | chr1 | TogoVar | |||||||
SMOC1_chr14_69874416_70037366 | 69878699 | ATGTGTGT others(27): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 others(18): Show |
21 | 26 | 0.8077 | -34 | c.-97 others(43): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 716 | chr14 | TogoVar | |||||||
SMOC1_chr14_69874416_70037366 | 69961270 | GTGTATAT others(27): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 245 | 0.0041 | -34 | c.378 others(51): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMPD1_chr11_6385474_6399996 | 6387249 | CATATATA others(27): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02572.hp2 HG02622.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0005a0002c0002a0004c0006others(1): Show | a0001c0005t0003a0002c0002t0001a0004c0006t0002others(1): Show | a0001c0005t0003g0006 a0002c0002t0001g0001 a0004c0006t0002g0035 others(2): Show |
5 | 72 | 0.0694 | -34 | c.-33 others(45): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 3224 | chr11 | TogoVar | |||||||
SMR3B_chr4_70378131_70395244 | 70392394 | AGCAAAAA others(27): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 460 | 0.0022 | -34 | c.*25 others(45): Show |
SMR3B | ENSG00000171201.12 | transcript | ENST00000304915.8 | protein_coding | 2151 | chr4 | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4592219 | GTCACTTT others(27): Show |
G | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0127 | 1 | 440 | 0.0023 | -34 | c.400 others(49): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMUG1_chr12_54175366_54193985 | 54188267 | AAATAATA others(27): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02818.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0007 a0001c0001t0001g0113 a0001c0001t0002g0005 others(1): Show |
5 | 192 | 0.0260 | -34 | c.-10 others(51): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063241 | TTATATAT others(27): Show |
T | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0194 | 1 | 120 | 0.0083 | -34 | c.56- others(49): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88065220 | CCCCCCCT others(27): Show |
C | upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0021 | 1 | 332 | 0.0030 | -34 | c.-26 others(45): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2604 | chr2 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88065233 | CCCCTCCC others(27): Show |
C | upstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0073 | 1 | 318 | 0.0031 | -34 | c.-26 others(45): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2591 | chr2 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49978464 | CATATATA others(27): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01358.hp2 HG01361.hp2 others(27): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0010a0002c0002t0002a0002c0002t0015others(1): Show | a0001c0001t0010g0009 a0002c0002t0002g0006 a0002c0002t0002g0008 others(4): Show |
30 | 338 | 0.0888 | -34 | c.-45 others(45): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 4515 | chr20 | TogoVar | |||||||
SNRK_chr3_43281540_43356143 | 43339818 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 12 | 0.0833 | -34 | c.732 others(49): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1005806 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02559.hp1 |
a0003a0009 | a0003c0008a0009c0012 | a0003c0008t0001a0009c0012t0001 | a0003c0008t0001g0096 a0009c0012t0001g0066 |
2 | 12 | 0.1667 | -34 | c.72+ others(51): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1056278 | GGCCGCGC others(27): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG02717.hp1 HG02886.hp1 others(4): Show |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0001a0005c0006t0001 | a0001c0002t0001g0084 a0001c0002t0001g0141 a0005c0006t0001g0081 others(4): Show |
7 | 158 | 0.0443 | -34 | c.73- others(51): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX16_chr8_81794583_81847185 | 81842521 | AGAGAAAG others(27): Show |
A | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0078 | 1 | 301 | 0.0033 | -34 | c.-53 others(43): Show |
SNX16 | ENSG00000104497.15 | transcript | ENST00000345957.9 | protein_coding | 337 | chr8 | TogoVar | |||||||
SNX18_chr5_54512759_54551586 | 54513607 | ATATATAT others(27): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01261.hp1 HG02280.hp1 others(12): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0006a0001c0004t0023others(2): Show | a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0046 others(11): Show |
15 | 388 | 0.0387 | -34 | c.-43 others(45): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 4151 | chr5 | TogoVar | |||||||
SNX18_chr5_54512759_54551586 | 54514144 | AATTTATA others(27): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(38): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(14): Show | a0001c0002t0001g0004 a0001c0002t0006g0163 a0001c0002t0008g0002 others(30): Show |
41 | 388 | 0.1057 | -34 | c.-38 others(45): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 3614 | chr5 | TogoVar | |||||||
SNX25_chr4_185204598_185368966 | 185222228 | GCCATATA others(27): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(179): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(177): Show |
182 | 274 | 0.6642 | -34 | c.429 others(53): Show |
SNX25 | ENSG00000109762.17 | transcript | ENST00000652585.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNX25_chr4_185204598_185368966 | 185222393 | ACAGCGCC others(27): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 272 | 0.0037 | -34 | c.429 others(53): Show |
SNX25 | ENSG00000109762.17 | transcript | ENST00000652585.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNX25_chr4_185204598_185368966 | 185222432 | GCCCTATA others(27): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 274 | 0.0036 | -34 | c.429 others(53): Show |
SNX25 | ENSG00000109762.17 | transcript | ENST00000652585.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNX27_chr1_151607050_151704080 | 151676270 | ATTTTTTT others(27): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(70): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(68): Show |
73 | 74 | 0.9865 | -34 | c.115 others(53): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12512367 | AAAATATA others(27): Show |
A | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0014 | 1 | 127 | 0.0079 | -34 | c.217 others(55): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX4_chr3_125441650_125525202 | 125506832 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02148.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 others(1): Show |
4 | 358 | 0.0112 | -34 | c.142 others(51): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 1/13 | chr3 | TogoVar | |||||||
SNX6_chr14_34556093_34635148 | 34606571 | GCCTCCCG others(27): Show |
G | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 320 | 0.0031 | -34 | c.271 others(49): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 4/13 | chr14 | TogoVar | |||||||
SOBP_chr6_107485117_107666306 | 107656336 | AAAGAAAG others(27): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01261.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0220 a0001c0001t0002g0004 a0001c0001t0002g0102 others(8): Show |
11 | 294 | 0.0374 | -34 | c.*4- others(49): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOCS1_chr16_11249417_11261204 | 11253116 | AAGAAAAG others(27): Show |
A | downstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 | 1 | 430 | 0.0023 | -34 | c.*16 others(45): Show |
SOCS1 | ENSG00000185338.7 | transcript | ENST00000332029.4 | protein_coding | 1300 | chr16 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33577604 | TACACACA others(27): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01074.hp2 others(14): Show |
a0001a0002a0024 | a0001c0001a0001c0011a0001c0035others(2): Show | a0001c0001t0001a0001c0011t0001a0001c0035t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 others(13): Show |
17 | 75 | 0.2267 | -34 | c.*11 others(45): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 124 | chr21 | TogoVar | |||||||
SORCS3_chr10_104636290_105270242 | 104684779 | GTTTTTTT others(27): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0003 | a0003c0009 | a0003c0009t0002 | a0003c0009t0002g0096 a0003c0009t0002g0097 |
2 | 22 | 0.0909 | -34 | c.627 others(53): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23570922 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0082 | a0001c0001t0016g0147 a0001c0001t0082g0002 |
2 | 208 | 0.0096 | -34 | c.134 others(53): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23837245 | ATATATTT others(27): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02647.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0003g0208 a0001c0001t0004g0209 a0001c0001t0008g0205 others(3): Show |
6 | 210 | 0.0286 | -34 | c.481 others(51): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16063496 | TTATATAT others(27): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG03579.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0044a0001c0002t0001 | a0001c0001t0018g0007 a0001c0001t0018g0122 a0001c0001t0044g0218 others(1): Show |
4 | 32 | 0.1250 | -34 | c.110 others(53): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 9/15 | chr11 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230510473 | CTTTTTTT others(27): Show |
C | intron_variant | MODIFIER | NA18977.hp2 | a0006 | a0006c0014 | a0006c0014t0004 | a0006c0014t0004g0205 | 1 | 2 | 0.5000 | -34 | c.205 others(51): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140L_chr2_230322193_230408732 | 230396680 | CTATTTAA others(27): Show |
C | intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0160 | 1 | 334 | 0.0030 | -34 | c.115 others(49): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112383111 | AAAAGAAA others(27): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01168.hp2 HG01169.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0162 others(3): Show |
7 | 234 | 0.0299 | -34 | c.94+ others(49): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214178141 | TTTTTAAA others(27): Show |
T | intron_variant | MODIFIER | HG02293.hp2 HG03130.hp1 HG03130.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0079 others(3): Show |
6 | 86 | 0.0698 | -34 | c.172 others(55): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG1_chr8_100153587_100246904 | 100214988 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01346.hp2 others(5): Show |
a0002a0003 | a0002c0001a0003c0004a0003c0006 | a0002c0001t0001a0003c0004t0001a0003c0006t0001 | a0002c0001t0001g0008 a0002c0001t0001g0341 a0003c0004t0001g0032 others(4): Show |
8 | 73 | 0.1096 | -34 | c.153 others(53): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG6_chr10_22340496_22422610 | 22346463 | CTTCTTCT others(27): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 140 | 0.0071 | -34 | c.121 others(49): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32110849 | ATATAGAG others(27): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011 | a0001c0001t0002g0228 a0001c0001t0004g0194 a0001c0001t0004g0225 others(3): Show |
6 | 155 | 0.0387 | -34 | c.683 others(51): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32111082 | CGTGTGTA others(27): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01243.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0221 a0001c0001t0002g0257 a0001c0001t0002g0258 others(9): Show |
12 | 279 | 0.0430 | -34 | c.683 others(51): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32111195 | AGTATATA others(27): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0004 a0001c0001t0011g0006 |
2 | 334 | 0.0060 | -34 | c.683 others(51): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA2L_chr16_89691357_89706705 | 89694806 | ACCCGCAG others(27): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(70): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0012 a0001c0001t0003g0003 a0001c0001t0003g0008 others(27): Show |
73 | 416 | 0.1755 | -34 | c.*24 others(45): Show |
SPATA2L | ENSG00000158792.16 | transcript | ENST00000289805.10 | protein_coding | 1550 | chr16 | TogoVar | |||||||
SPATA31D3_chr9_81938500_81955093 | 81945273 | CTTTTTTT others(27): Show |
C | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 64 | 0.0156 | -34 | c.293 others(47): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200352311 | TTTTATAT others(27): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01106.hp2 others(23): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0005c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0196 a0001c0001t0001g0220 a0001c0001t0001g0224 others(23): Show |
26 | 34 | 0.7647 | -34 | c.-23 others(53): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28819841 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0330 | 1 | 332 | 0.0030 | -34 | c.294 others(49): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |