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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB2A_chr8_60511987_60628644 | 60626831 | T | TCATGGAT others(98): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0095 | 1 | 358 | 0.0028 | 105 | c.*60 others(116): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 3188 | chr8 | TogoVar | |||||||
RAB31_chr18_9703301_9867551 | 9815290 | A | ACTGTCCT others(98): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 a0001c0001t0001g0256 |
2 | 322 | 0.0062 | 105 | c.380 others(120): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB40C_chr16_585066_634268 | 585295 | A | ACCCCCAA others(98): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0197 | 1 | 350 | 0.0029 | 105 | c.-49 others(116): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 4770 | chr16 | TogoVar | |||||||
RADIL_chr7_4792055_4888716 | 4886301 | T | TATATATA others(98): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 292 | 0.0034 | 105 | c.-27 others(116): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2586 | chr7 | TogoVar | |||||||
RAI1_chr17_17676458_17816453 | 17808414 | A | ATTTTATT others(98): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0011 | 1 | 252 | 0.0040 | 105 | c.566 others(122): Show |
RAI1 | ENSG00000108557.20 | transcript | ENST00000353383.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114043899 | C | CGCCCCGC others(98): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 67 | 0.0149 | 105 | c.278 others(122): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RASSF5_chr1_206502531_206594448 | 206524637 | A | AAATATAT others(98): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0105 | 1 | 346 | 0.0029 | 105 | c.458 others(124): Show |
RASSF5 | ENSG00000266094.8 | transcript | ENST00000579436.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RBBP8NL_chr20_62405237_62432539 | 62417538 | C | CGTCTGTT others(98): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0111 a0001c0001t0004g0146 a0001c0001t0004g0148 |
3 | 432 | 0.0069 | 105 | c.105 others(120): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 3/13 | chr20 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7022007 | T | TCCCCTCC others(98): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 68 | 0.0147 | 105 | c.-15 others(124): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79555443 | T | TGATGGTG others(98): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 HG03239.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0019others(3): Show | a0001c0001t0001g0087 a0001c0001t0005g0142 a0001c0001t0005g0144 others(4): Show |
7 | 154 | 0.0455 | 105 | c.-32 others(126): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RET_chr10_43072069_43135351 | 43088299 | G | GGTCATGA others(98): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0217 | 1 | 382 | 0.0026 | 105 | c.73+ others(122): Show |
RET | ENSG00000165731.21 | transcript | ENST00000355710.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(98): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 276 | 0.0036 | 105 | c.132 others(122): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124296162 | T | TCTTTCTT others(98): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01255.hp2 HG01358.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 a0001c0001t0001g0327 a0001c0001t0001g0328 others(1): Show |
4 | 388 | 0.0103 | 105 | c.207 others(120): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3412971 | A | ACGTCAGG others(98): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01071.hp2 others(1): Show |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0001 a0001c0010t0001g0176 a0001c0010t0001g0179 |
4 | 312 | 0.0128 | 105 | c.202 others(124): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS7BP_chr5_64501015_64617319 | 64605882 | G | GTATATAT others(98): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0268 | 1 | 280 | 0.0036 | 105 | c.683 others(122): Show |
RGS7BP | ENSG00000186479.5 | transcript | ENST00000334025.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RGSL1_chr1_182445146_182565597 | 182533300 | T | TTTTTTTT others(98): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01243.hp2 HG01346.hp2 others(24): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(4): Show | a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0166 others(24): Show |
27 | 338 | 0.0799 | 105 | c.249 others(122): Show |
RGSL1 | ENSG00000121446.20 | transcript | ENST00000294854.13 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF13_chr3_149808215_149967139 | 149875897 | A | AAAATATA others(98): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00621.hp2 others(73): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0002others(3): Show | a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 others(73): Show |
76 | 280 | 0.2714 | 105 | c.321 others(122): Show |
RNF13 | ENSG00000082996.20 | transcript | ENST00000392894.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RNF167_chr17_4935268_4950222 | 4944992 | C | CAATTGAA others(98): Show |
stop_gained others(1): Show |
HIGH | HG01257.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0003 | 1 | 440 | 0.0023 | 105 | c.102 others(114): Show |
p.Pro others(118): Show |
RNF167 | ENSG00000108523.16 | transcript | ENST00000262482.11 | protein_coding | 10/10 | 1546/1775 | 1030/1053 | 344/350 | chr17 | TogoVar | |||
RNF213_chr17_80255852_80403794 | 80274697 | G | GGGTGAGT others(98): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 |
a0002a0027 | a0002c0100a0027c0101 | a0002c0100t0058a0027c0101t0037 | a0002c0100t0058g0255 a0027c0101t0037g0254 |
2 | 292 | 0.0069 | 105 | c.261 others(122): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80315468 | A | ATGGTGGT others(98): Show |
intron_variant | MODIFIER | NA18979.hp2 NA18990.hp1 |
a0001a0005 | a0001c0004a0005c0007 | a0001c0004t0072a0005c0007t0009 | a0001c0004t0072g0164 a0005c0007t0009g0218 |
2 | 292 | 0.0069 | 105 | c.281 others(124): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ROPN1L_chr5_10436879_10470026 | 10458595 | T | TCATGTAC others(98): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0266 | 1 | 374 | 0.0027 | 105 | c.418 others(122): Show |
ROPN1L | ENSG00000145491.12 | transcript | ENST00000274134.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 61071397 | G | GGAGGGGA others(98): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0010a0001c0001t0013a0001c0001t0036others(2): Show | a0001c0001t0010g0088 a0001c0001t0013g0072 a0001c0001t0036g0102 others(2): Show |
5 | 118 | 0.0424 | 105 | c.166 others(126): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RPA2_chr1_27886524_27919575 | 27916978 | C | CCCTTCCT others(98): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG02055.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0032 a0001c0001t0002g0123 others(2): Show |
7 | 364 | 0.0192 | 105 | c.-25 others(116): Show |
RPA2 | ENSG00000117748.10 | transcript | ENST00000373912.8 | protein_coding | 2404 | chr1 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7637658 | T | TAGTTATA others(98): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG01891.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0095 a0001c0001t0002g0007 a0001c0001t0002g0087 others(7): Show |
12 | 308 | 0.0390 | 105 | c.283 others(120): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
RPH3A_chr12_112786748_112903881 | 112791867 | G | GAGAGAGA others(98): Show |
5_prime_UTR_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0148 | 1 | 266 | 0.0038 | 105 | c.-28 others(114): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 1/22 | 36451 | chr12 | TogoVar | ||||||
RPL28_chr19_55380932_55397085 | 55396500 | C | CCCCTCCC others(98): Show |
downstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 314 | 0.0032 | 105 | c.*81 others(116): Show |
RPL28 | ENSG00000108107.15 | transcript | ENST00000344063.7 | protein_coding | 4416 | chr19 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23761921 | T | TTTCTTTC others(98): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 366 | 0.0027 | 105 | c.-15 others(116): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1082 | chr19 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23761921 | T | TTTCTTTC others(98): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0348 | 1 | 366 | 0.0027 | 105 | c.-15 others(116): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1082 | chr19 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80665331 | C | CCCTTTCC others(98): Show |
intron_variant | MODIFIER | HG00423.hp2 NA19007.hp2 |
a0001 | a0001c0017a0001c0061 | a0001c0017t0005a0001c0061t0009 | a0001c0017t0005g0031 a0001c0061t0009g0040 |
2 | 196 | 0.0102 | 105 | c.348 others(124): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80665331 | C | CTTTTTCC others(98): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0131 | 1 | 196 | 0.0051 | 105 | c.348 others(124): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | chr17 | TogoVar | |||||||
RSPH10B2_chr7_6749103_6803765 | 6797861 | A | AAATACAC others(98): Show |
intron_variant | MODIFIER | HG03492.hp2 NA18953.hp2 |
a0002a0022 | a0002c0002a0022c0027 | a0002c0002t0001a0022c0027t0001 | a0002c0002t0001g0063 a0022c0027t0001g0024 |
2 | 108 | 0.0185 | 105 | c.243 others(122): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6797863 | A | ATACACAC others(98): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG01517.hp1 others(7): Show |
a0002a0003a0018 | a0002c0002a0002c0004a0003c0003others(1): Show | a0002c0002t0001a0002c0004t0001a0003c0003t0001others(1): Show | a0002c0002t0001g0053 a0002c0004t0001g0020 a0002c0004t0001g0021 others(7): Show |
10 | 108 | 0.0926 | 105 | c.243 others(122): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241875099 | G | GGGGCCGA others(98): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02145.hp2 others(8): Show |
a0005a0006 | a0005c0005a0006c0006 | a0005c0005t0005a0005c0005t0022a0006c0006t0007 | a0005c0005t0005g0005 a0005c0005t0022g0005 a0006c0006t0007g0009 |
11 | 365 | 0.0301 | 105 | c.*18 others(116): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 1277 | chr2 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241875099 | G | GGGGCCGA others(98): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG02922.hp1 NA18959.hp1 others(3): Show |
a0001a0003a0027 | a0001c0001a0003c0003a0027c0021 | a0001c0001t0002a0001c0001t0009a0003c0003t0002others(1): Show | a0001c0001t0002g0001 a0001c0001t0009g0001 a0003c0003t0002g0001 others(1): Show |
6 | 365 | 0.0164 | 105 | c.*18 others(116): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 1277 | chr2 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241876393 | A | ATCCCAGG others(98): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0002 | 1 | 365 | 0.0027 | 105 | c.*31 others(116): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 2571 | chr2 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626659 | G | GTGTCATA others(98): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0170 | 1 | 202 | 0.0050 | 105 | c.-21 others(116): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1738 | chr7 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668542 | T | TCCCTCAC others(98): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 a0001c0001t0002g0247 |
2 | 262 | 0.0076 | 105 | c.249 others(124): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 139304 | C | CCCCACAG others(98): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 402 | 0.0025 | 105 | c.*36 others(114): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 238 | chr17 | TogoVar | |||||||
SCLT1_chr4_128878993_129098539 | 129034716 | A | AATAAATA others(98): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0033 | 1 | 288 | 0.0035 | 105 | c.290 others(122): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 5/20 | chr4 | TogoVar | |||||||
SDF2L1_chr22_21637302_21649299 | 21646678 | T | TGAAAGTC others(98): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0008 | 1 | 430 | 0.0023 | 105 | c.*25 others(116): Show |
SDF2L1 | ENSG00000128228.5 | transcript | ENST00000248958.5 | protein_coding | 2380 | chr22 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13848555 | G | GAGAAGAA others(98): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0246 | 1 | 324 | 0.0031 | 105 | c.*92 others(114): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 691 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13848606 | A | AAGAAGAA others(98): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 324 | 0.0031 | 105 | c.*87 others(114): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 640 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13848619 | A | AGAAGAAG others(98): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 324 | 0.0031 | 105 | c.*86 others(114): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 627 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13848619 | A | AGAGGAAG others(98): Show |
downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 324 | 0.0031 | 105 | c.*86 others(114): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 627 | chr20 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66630841 | A | AAGAAAGA others(98): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0129 | 1 | 302 | 0.0033 | 105 | c.75- others(120): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 458609 | C | CGGGGAGG others(98): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02622.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0005t0015others(2): Show | a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0007g0041 others(3): Show |
6 | 212 | 0.0283 | 105 | c.468 others(122): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 458613 | G | GAGGCGGA others(98): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0009 | 1 | 212 | 0.0047 | 105 | c.468 others(122): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9792159 | T | TAGAATAG others(98): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 256 | 0.0039 | 105 | c.165 others(122): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1070822 | C | CAGCCCCA others(98): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0037 | 1 | 118 | 0.0085 | 105 | c.224 others(124): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC1A5_chr19_46769883_46793594 | 46791988 | T | TCACACAC others(98): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0014 | a0001c0014t0008 | a0001c0014t0008g0085 | 1 | 428 | 0.0023 | 105 | c.-40 others(116): Show |
SLC1A5 | ENSG00000105281.12 | transcript | ENST00000542575.6 | protein_coding | 3395 | chr19 | TogoVar |