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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYNN_chr3_169768396_169794716 | 169771186 | A | TTTATATT others(365): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 350 | 0.0029 | 372 | c.-23 others(383): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2210 | chr3 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543684 | G | GTGGTGGT others(365): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 342 | 0.0029 | 372 | c.152 others(389): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2086477 | C | CGTGATCT others(365): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0074 | a0074c0063 | a0074c0063t0001 | a0074c0063t0001g0205 | 1 | 403 | 0.0025 | 372 | c.164 others(391): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | chr8 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40084638 | T | TCTATCGA others(365): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0012 | a0002c0012t0006 | a0002c0012t0006g0091 | 1 | 170 | 0.0059 | 372 | c.332 others(391): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571086 | T | TGTCTGCC others(365): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 372 | c.*26 others(383): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1592 | chr16 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132148960 | C | CACACCAC others(365): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0054 | 1 | 294 | 0.0034 | 372 | c.901 others(385): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
NOP14_chr4_2932936_2968406 | 2961226 | T | TGTTAGTA others(365): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0015 | a0015c0013 | a0015c0013t0001 | a0015c0013t0001g0315 | 1 | 422 | 0.0024 | 372 | c.195 others(389): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCCCC others(365): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 326 | 0.0031 | 372 | c.433 others(389): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(365): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0065 | 1 | 326 | 0.0031 | 372 | c.433 others(389): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
OPTN_chr10_13095163_13143308 | 13115253 | T | TTATATCT others(365): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02615.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(3): Show |
6 | 418 | 0.0144 | 372 | c.553 others(387): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(365): Show |
intron_variant | MODIFIER | NA18980.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 438 | 0.0046 | 372 | c.-29 others(387): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(365): Show |
intron_variant | MODIFIER | NA19085.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 2 | 438 | 0.0046 | 372 | c.-29 others(387): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(365): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 438 | 0.0023 | 372 | c.-29 others(387): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(365): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 438 | 0.0023 | 372 | c.-29 others(387): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(365): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01975.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 6 | 438 | 0.0137 | 372 | c.-29 others(387): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(365): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 438 | 0.0023 | 372 | c.-29 others(387): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950683 | A | ACACACGT others(365): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 HG03927.hp1 NA18999.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0004a0002c0005t0004 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0004g0132 others(1): Show |
4 | 350 | 0.0114 | 372 | c.-27 others(383): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2556 | chr16 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCC others(365): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 292 | 0.0034 | 372 | c.471 others(387): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(365): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 436 | 0.0023 | 372 | c.-26 others(383): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318063 | T | TGCACCTC others(365): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 360 | 0.0028 | 372 | c.*35 others(383): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3090 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(365): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0272 a0001c0001t0005g0273 |
2 | 360 | 0.0056 | 372 | c.*35 others(383): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(365): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0160 |
2 | 360 | 0.0056 | 372 | c.*35 others(383): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(365): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 360 | 0.0028 | 372 | c.*35 others(383): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(365): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(71): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(63): Show |
74 | 360 | 0.2056 | 372 | c.*35 others(383): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDXDC1_chr16_14970026_15043332 | 15022336 | T | TCTTATCA others(365): Show |
intron_variant | MODIFIER | HG02257.hp1 NA19043.hp1 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0132 a0001c0005t0005g0133 |
2 | 279 | 0.0072 | 372 | c.109 others(389): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4011658 | T | TGGTGTGG others(365): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03579.hp1 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0008 | a0001c0004t0003g0301 a0001c0004t0008g0300 |
2 | 334 | 0.0060 | 372 | c.28- others(387): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571086 | T | TGTCTGCC others(365): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0086 | 1 | 408 | 0.0025 | 372 | c.-10 others(387): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIMREG_chr17_6439455_6456469 | 6455737 | G | GAGGGGAG others(365): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 312 | 0.0032 | 372 | c.*53 others(383): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4269 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6455737 | G | GAGGGGAG others(365): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0146 | 1 | 218 | 0.0046 | 372 | c.262 others(387): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 19/19 | chr17 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398356 | C | CCCCGCAC others(365): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 | 1 | 216 | 0.0046 | 372 | c.106 others(389): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLPP1_chr5_55419854_55539964 | 55433460 | T | TTCAGTAA others(365): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 294 | 0.0034 | 372 | c.550 others(389): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(365): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02976.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 a0002c0002t0001g0188 |
2 | 354 | 0.0057 | 372 | c.-27 others(381): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50433359 | C | CGGACGCT others(365): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0298 | 1 | 340 | 0.0029 | 372 | c.140 others(391): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(365): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0134 | 1 | 304 | 0.0033 | 372 | c.66+ others(387): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RETNLB_chr3_108750638_108762410 | 108759494 | T | TGTATGTA others(365): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 452 | 0.0022 | 372 | c.-23 others(383): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2085 | chr3 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759494 | T | TGTATGTA others(365): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 452 | 0.0022 | 372 | c.-23 others(383): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2085 | chr3 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759494 | T | TGTATGTA others(365): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0023 | 1 | 452 | 0.0022 | 372 | c.-23 others(383): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2085 | chr3 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759512 | T | TGCATACA others(365): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 452 | 0.0022 | 372 | c.-23 others(383): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2103 | chr3 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759540 | T | TATGTATG others(365): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 452 | 0.0022 | 372 | c.-23 others(383): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2131 | chr3 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341502 | G | GGGCGGAG others(365): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0266 | 1 | 312 | 0.0032 | 372 | c.188 others(391): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130482867 | T | TTGTGTGT others(365): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 180 | 0.0056 | 372 | c.-3- others(387): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483273 | G | GGGGGCAC others(365): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 180 | 0.0056 | 372 | c.-3- others(387): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483273 | G | GGGGGCAC others(365): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG03486.hp1 |
a0003a0008a0017 | a0003c0042a0008c0013a0017c0052 | a0003c0042t0003a0008c0013t0003a0017c0052t0003 | a0003c0042t0003g0068 a0008c0013t0003g0175 a0017c0052t0003g0093 |
3 | 180 | 0.0167 | 372 | c.-3- others(387): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483295 | C | CACCCACT others(365): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0052 | 1 | 180 | 0.0056 | 372 | c.-3- others(387): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924336 | T | TTCGTACC others(365): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01074.hp2 HG01123.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0035a0001c0002t0001others(8): Show | a0001c0001t0003g0121 a0001c0001t0003g0152 a0001c0001t0035g0058 others(13): Show |
16 | 276 | 0.0580 | 372 | c.58- others(389): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(365): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0255 | 1 | 396 | 0.0025 | 372 | c.807 others(389): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(365): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 396 | 0.0025 | 372 | c.807 others(389): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(365): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 396 | 0.0025 | 372 | c.807 others(389): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(365): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 a0001c0001t0002g0090 |
2 | 396 | 0.0051 | 372 | c.807 others(389): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088071 | C | CGTATTAA others(365): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0008 | 1 | 232 | 0.0043 | 372 | c.*43 others(383): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4212 | chrX | TogoVar |