| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PCNT_chr21_46319156_46450769 | 46404022 | G | GTGTGTGT others(668): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03041.hp1 NA18906.hp2 others(1): Show |
a0004a0005 | a0004c0004a0005c0008 | a0004c0004t0001a0005c0008t0001 | a0004c0004t0001g0089a0005c0008t0001g0083a0005c0008t0001g0084others(1): Show | 4 | 332 | 0.0121 | 675 | c.511 others(694): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 27/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCNT_chr21_46319156_46450769 | 46404022 | G | GTGTGTGT others(668): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG03579.hp2 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0086a0005c0008t0001g0087a0005c0008t0001g0088 | 3 | 332 | 0.0090 | 675 | c.511 others(694): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 27/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3351524 | G | GTCTCTCC others(668): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0081 | a0001c0004t0081g0031 | 1 | 210 | 0.0048 | 675 | c.439 others(694): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PROZ_chr13_113153648_113177386 | 113176508 | C | CCCAGCAC others(668): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 378 | 0.0027 | 675 | c.*44 others(686): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4123 | chr13 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGA others(668): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 295 | 0.0034 | 675 | c.126 others(694): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(668): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0118 | 1 | 220 | 0.0046 | 675 | c.24+ others(692): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(668): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259a0001c0001t0001g0260 | 2 | 304 | 0.0066 | 675 | c.66+ others(690): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(668): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0185 | 1 | 334 | 0.0030 | 675 | c.45- others(690): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RND2_chr17_43020231_43037041 | 43024257 | A | AATCTCGG others(668): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG02109.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(10): Show | 19 | 322 | 0.0590 | 675 | c.-10 others(686): Show |
RND2 | ENSG00000108830.11 | transcript | ENST00000587250.4 | protein_coding | 973 | chr17 | TogoVar | ||||||
| RND2_chr17_43020231_43037041 | 43024257 | A | AATCTCGG others(668): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 322 | 0.0031 | 675 | c.-10 others(686): Show |
RND2 | ENSG00000108830.11 | transcript | ENST00000587250.4 | protein_coding | 973 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 220856 | C | CACATCAG others(668): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 133 | 0.0075 | 675 | c.614 others(692): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
| SCAMP4_chr19_1900399_1931013 | 1923869 | C | CCCGCCTC others(668): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193a0001c0001t0001g0194 | 2 | 442 | 0.0045 | 675 | c.514 others(690): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SCAMP4_chr19_1900399_1931013 | 1923997 | C | CAGTCTGT others(668): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 442 | 0.0023 | 675 | c.514 others(688): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SCAMP4_chr19_1900399_1931013 | 1924006 | T | TGCCTCGG others(668): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 442 | 0.0023 | 675 | c.514 others(688): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(668): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 324 | 0.0031 | 675 | c.115 others(692): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(668): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 324 | 0.0031 | 675 | c.115 others(692): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(668): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0218 | 1 | 376 | 0.0027 | 675 | c.101 others(694): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(668): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0121 | 1 | 376 | 0.0027 | 675 | c.101 others(694): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SERINC2_chr1_31408213_31439678 | 31431808 | G | GATGGTTA others(668): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0061 | 1 | 376 | 0.0027 | 675 | c.101 others(694): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31431912 | A | ACAGGGTG others(668): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0349 | 1 | 376 | 0.0027 | 675 | c.101 others(694): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31431985 | T | TAGGGTGG others(668): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0186 | 1 | 376 | 0.0027 | 675 | c.101 others(692): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SERINC2_chr1_31408213_31439678 | 31431994 | T | TAGGGTGG others(668): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0365 | 1 | 376 | 0.0027 | 675 | c.101 others(692): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SERINC2_chr1_31408213_31439678 | 31432147 | C | CAGGGTGG others(668): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0060 | 1 | 376 | 0.0027 | 675 | c.101 others(692): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SRXN1_chr20_641615_658200 | 642200 | G | GGGGGGCC others(668): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 422 | 0.0024 | 675 | c.*65 others(686): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4414 | chr20 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 78879317 | A | ATCTGGGA others(668): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0015a0001c0006t0005a0001c0008t0005others(2): Show | a0001c0001t0015g0086a0001c0006t0005g0023a0001c0006t0005g0037others(3): Show | 6 | 94 | 0.0638 | 675 | c.108 others(696): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 9/33 | chr11 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 78879317 | A | ATCTGGGA others(668): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0007 | a0001c0007t0050 | a0001c0007t0050g0051 | 1 | 94 | 0.0106 | 675 | c.108 others(696): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 9/33 | chr11 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 78879317 | A | ATCTGGGA others(668): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0054 | 1 | 94 | 0.0106 | 675 | c.108 others(696): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 9/33 | chr11 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 78879317 | A | ATCTGGGA others(668): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02615.hp1 others(3): Show |
a0001a0010 | a0001c0001a0001c0005a0001c0022others(3): Show | a0001c0001t0001a0001c0005t0004a0001c0022t0033others(3): Show | a0001c0001t0001g0022a0001c0005t0004g0002a0001c0022t0033g0034others(3): Show | 6 | 94 | 0.0638 | 675 | c.108 others(696): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 9/33 | chr11 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 78879335 | G | ACCTCTGC others(668): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02976.hp1 HG03139.hp1 |
a0001 | a0001c0004 | a0001c0004t0017a0001c0004t0028a0001c0004t0063 | a0001c0004t0017g0079a0001c0004t0028g0010a0001c0004t0063g0091 | 3 | 94 | 0.0319 | 675 | c.108 others(696): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 9/33 | chr11 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 78879335 | G | ACCTCTGC others(668): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0013 | a0001c0013t0043 | a0001c0013t0043g0073 | 1 | 94 | 0.0106 | 675 | c.108 others(696): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 9/33 | chr11 | TogoVar | ||||||
| TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(668): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 360 | 0.0028 | 675 | c.*62 others(686): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | ||||||
| TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(668): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0152 | a0001c0001t0152g0009 | 1 | 260 | 0.0039 | 675 | c.*54 others(686): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | ||||||
| TMEM91_chr19_41371533_41389083 | 41373621 | C | CGCCTGTA others(668): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 394 | 0.0025 | 675 | c.-32 others(686): Show |
TMEM91 | ENSG00000142046.15 | transcript | ENST00000392002.7 | protein_coding | 2911 | chr19 | TogoVar | ||||||
| TP73_chr1_3647516_3741201 | 3706380 | G | GGGGGTAA others(668): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0017 | a0001c0017t0039 | a0001c0017t0039g0132 | 1 | 358 | 0.0028 | 675 | c.187 others(692): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TRAF6_chr11_36478769_36515272 | 36507145 | T | TATGTATA others(668): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 388 | 0.0026 | 675 | c.-23 others(692): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| TRIM58_chr1_247852187_247885138 | 247870376 | A | AGTATCAG others(668): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01943.hp1 HG02027.hp1 others(12): Show |
a0002a0003a0004others(2): Show | a0002c0003a0003c0021a0004c0004others(3): Show | a0002c0003t0031a0003c0021t0001a0004c0004t0003others(4): Show | a0002c0003t0031g0307a0003c0021t0001g0095a0004c0004t0003g0016others(9): Show | 15 | 454 | 0.0330 | 675 | c.871 others(692): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TRIM58_chr1_247852187_247885138 | 247870399 | T | TAGAGCCT others(668): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0006 | a0002c0006t0027 | a0002c0006t0027g0217 | 1 | 454 | 0.0022 | 675 | c.871 others(692): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TRIM58_chr1_247852187_247885138 | 247870416 | C | TGCCCAGA others(668): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0142 | 1 | 454 | 0.0022 | 675 | c.871 others(692): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | chr1 | TogoVar | ||||||
| TRIM58_chr1_247852187_247885138 | 247870417 | G | GCCCAGAA others(668): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 454 | 0.0022 | 675 | c.871 others(692): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TRIM58_chr1_247852187_247885138 | 247870417 | G | GCCCAGAA others(668): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00673.hp2 others(9): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0009a0001c0005t0022others(2): Show | a0001c0005t0001g0087a0001c0005t0009g0034a0001c0005t0009g0043others(8): Show | 12 | 454 | 0.0264 | 675 | c.871 others(692): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TRIM58_chr1_247852187_247885138 | 247870642 | G | GCCCAGAA others(668): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0106 | 1 | 454 | 0.0022 | 675 | c.871 others(692): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TSHZ2_chr20_52967358_53500330 | 53204100 | T | TATACTAT others(668): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0043a0002c0003t0027 | a0001c0001t0043g0169a0002c0003t0027g0139 | 2 | 174 | 0.0115 | 675 | c.41- others(692): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TWIST2_chr2_238843085_238915534 | 238870878 | A | ACCCCACA others(668): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 338 | 0.0030 | 675 | c.*35 others(694): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TWIST2_chr2_238843085_238915534 | 238909157 | G | GTGTAGTG others(668): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18967.hp2 NA18993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0030a0001c0001t0001g0156a0001c0001t0002g0084others(1): Show | 4 | 338 | 0.0118 | 675 | c.*36 others(690): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TXNDC16_chr14_52425596_52557505 | 52530406 | A | ATTATATA others(668): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0147 | 1 | 238 | 0.0042 | 675 | c.392 others(692): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
| USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(668): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0037 | 1 | 167 | 0.0060 | 675 | c.*53 others(686): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
| VAT1_chr17_43009607_43027385 | 43024257 | A | AATCTCGG others(668): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01257.hp1 HG01884.hp2 others(18): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0002g0027others(13): Show | 21 | 344 | 0.0611 | 675 | c.-19 others(686): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 1873 | chr17 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(668): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0172 | 1 | 346 | 0.0029 | 675 | c.181 others(696): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ARSF_chrX_3036471_3117727 | 3037064 | A | AATATTAT others(669): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 193 | 0.0052 | 676 | c.-46 others(687): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4406 | chrX | TogoVar | ||||||
| ARSH_chrX_3001546_3039111 | 3037064 | A | AATATTAT others(669): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0182 | 1 | 248 | 0.0040 | 676 | c.*36 others(687): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2954 | chrX | TogoVar |