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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSH_chrX_3001546_3039111 | 3037162 | T | TATTATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01168.hp2 HG01169.hp1 |
a0001a0005 | a0001c0015a0005c0008 | a0001c0015t0004a0005c0008t0004 | a0001c0015t0004g0211a0005c0008t0004g0212a0005c0008t0004g0213 | 3 | 248 | 0.0121 | 10 | c.*37 others(21): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 3052 | chrX | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113921082 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 350 | 0.0029 | 10 | c.399 others(29): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
ARSJ_chr4_113895284_113984647 | 113921117 | A | ACACACAC others(3): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012 | a0001c0001t0007g0154a0001c0001t0012g0054 | 2 | 350 | 0.0057 | 10 | c.399 others(29): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663033 | A | ATCATCTC others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01099.hp1 HG01346.hp2 others(24): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0002c0002t0001a0006c0008t0001 | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0085others(17): Show | 27 | 394 | 0.0685 | 10 | c.887 others(27): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ART1_chr11_3640128_3669416 | 3663089 | A | ATCATCTC others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0081a0001c0001t0001g0082others(41): Show | 46 | 394 | 0.1168 | 10 | c.887 others(25): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ART4_chr12_14820569_14848526 | 14830119 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02717.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004a0002c0002t0015 | a0001c0001t0004g0241a0001c0001t0004g0309a0002c0002t0004g0098others(1): Show | 5 | 380 | 0.0132 | 10 | c.854 others(25): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14830536 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 380 | 0.0026 | 10 | c.854 others(27): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14830649 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02165.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0003 | a0001c0001t0004g0257a0003c0003t0003g0256 | 2 | 380 | 0.0053 | 10 | c.854 others(27): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14830649 | G | GTGTATAT others(3): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 380 | 0.0026 | 10 | c.854 others(27): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230984359 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 402 | 0.0025 | 10 | c.175 others(27): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARV1_chr1_230974094_231005733 | 230984359 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 402 | 0.0050 | 10 | c.175 others(27): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARV1_chr1_230974094_231005733 | 230984363 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 402 | 0.0025 | 10 | c.175 others(27): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARV1_chr1_230974094_231005733 | 230984365 | T | TGTGCGCG others(3): Show |
intron_variant | MODIFIER | NA18993.hp1 NA19006.hp1 NA19056.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0205a0001c0001t0001g0242others(1): Show | 6 | 402 | 0.0149 | 10 | c.175 others(27): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARV1_chr1_230974094_231005733 | 230984369 | T | TGCGCGCG others(3): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 402 | 0.0025 | 10 | c.175 others(27): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARV1_chr1_230974094_231005733 | 230984371 | T | TGTGCGCG others(3): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 402 | 0.0025 | 10 | c.175 others(27): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARV1_chr1_230974094_231005733 | 230986668 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01496.hp1 HG01943.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014a0001c0001t0001g0042a0001c0001t0001g0153others(8): Show | 15 | 402 | 0.0373 | 10 | c.175 others(27): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARX_chrX_24998694_25020965 | 25002717 | C | CCCGCACC others(3): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0004 | a0004c0005 | a0004c0005t0015 | a0004c0005t0015g0038 | 1 | 300 | 0.0033 | 10 | c.*19 others(21): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 976 | chrX | TogoVar | ||||||
ARX_chrX_24998694_25020965 | 25018639 | T | TTATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01071.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(8): Show | 18 | 300 | 0.0600 | 10 | c.-29 others(21): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2675 | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67604198 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01081.hp2 NA19004.hp1 NA19043.hp1 |
a0024a0048a0064 | a0024c0023a0048c0053a0064c0074 | a0024c0023t0001a0048c0053t0007a0064c0074t0032 | a0024c0023t0001g0072a0048c0053t0007g0171a0064c0074t0032g0180 | 3 | 193 | 0.0155 | 10 | c.161 others(31): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67723312 | C | CTCTGTGT others(3): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02818.hp1 HG02896.hp2 others(4): Show |
a0008a0009a0010others(4): Show | a0008c0005a0009c0013a0010c0078others(4): Show | a0008c0005t0033a0009c0013t0018a0010c0078t0006others(4): Show | a0008c0005t0033g0148a0009c0013t0018g0177a0010c0078t0006g0183others(4): Show | 7 | 193 | 0.0363 | 10 | c.260 others(27): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67723520 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01952.hp1 HG02630.hp2 others(22): Show |
a0001a0002a0004others(15): Show | a0001c0001a0002c0002a0004c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0016others(19): Show | a0001c0001t0001g0078a0001c0001t0003g0079a0001c0001t0003g0083others(22): Show | 25 | 193 | 0.1295 | 10 | c.260 others(27): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67728574 | A | AATATATA others(3): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG03017.hp1 NA18943.hp1 |
a0005a0022 | a0005c0007a0005c0067a0022c0021 | a0005c0007t0015a0005c0067t0015a0022c0021t0015 | a0005c0007t0015g0110a0005c0067t0015g0014a0022c0021t0015g0116 | 3 | 193 | 0.0155 | 10 | c.*47 others(21): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4775 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
AR_chrX_67539021_67735619 | 67733124 | C | CGTGAGTG others(3): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0026 | a0026c0051 | a0026c0051t0001 | a0026c0051t0001g0034 | 1 | 193 | 0.0052 | 10 | c.*92 others(21): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 2506 | chrX | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102871727 | C | CAAACAAA others(3): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01169.hp1 HG01243.hp2 others(16): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0004a0001c0002t0018a0001c0002t0019others(3): Show | a0001c0002t0004g0017a0001c0002t0004g0018a0001c0002t0004g0019others(16): Show | 19 | 362 | 0.0525 | 10 | c.171 others(25): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102871738 | A | AAACAAAA others(3): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19067.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0053a0001c0002t0004g0054 | 2 | 362 | 0.0055 | 10 | c.171 others(25): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102906270 | A | AATATATA others(3): Show |
downstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0016 | 1 | 362 | 0.0028 | 10 | c.*55 others(21): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4372 | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102906272 | A | AATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0168 | 1 | 362 | 0.0028 | 10 | c.*55 others(21): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4374 | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102906276 | A | AAAAAATA others(3): Show |
downstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 362 | 0.0028 | 10 | c.*55 others(21): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4378 | chr10 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50754931 | T | TGAGAGAG others(3): Show |
3_prime_UTR_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0007 | 1 | 414 | 0.0024 | 10 | c.*19 others(19): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 193 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ASAH2_chr10_50179861_50256516 | 50187084 | C | CCTCTCTC others(3): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00741.hp2 NA18989.hp1 |
a0002 | a0002c0001 | a0002c0001t0030 | a0002c0001t0030g0178a0002c0001t0030g0193a0002c0001t0030g0328 | 3 | 408 | 0.0074 | 10 | c.*22 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 230 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50206537 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01433.hp2 HG01515.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0001others(3): Show | a0001c0002t0080a0001c0002t0118a0001c0004t0090others(16): Show | a0001c0002t0080g0274a0001c0002t0118g0301a0001c0004t0090g0348others(24): Show | 28 | 408 | 0.0686 | 10 | c.141 others(27): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 12/20 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50212182 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00733.hp2 others(43): Show |
a0001a0002a0007 | a0001c0002a0001c0005a0002c0016others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(22): Show | a0001c0002t0001g0083a0001c0002t0003g0004a0001c0002t0003g0077others(37): Show | 46 | 408 | 0.1128 | 10 | c.122 others(27): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 10/20 | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130064893 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 308 | 0.0033 | 10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130071009 | G | GGAGAGAG others(3): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0047a0001c0001t0001g0255a0001c0001t0001g0256others(1): Show | 4 | 308 | 0.0130 | 10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130071011 | G | GGAGAGAG others(3): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01516.hp1 HG01934.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0024a0001c0001t0002g0154a0001c0001t0002g0173others(9): Show | 12 | 308 | 0.0390 | 10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130071011 | G | GGGGAGAG others(3): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0242 | 1 | 308 | 0.0033 | 10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130072791 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02055.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0007a0001c0006t0005 | a0001c0001t0001g0245a0001c0005t0007g0002a0001c0005t0007g0003others(2): Show | 5 | 308 | 0.0162 | 10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130072815 | G | GCGCGCGC others(3): Show |
intron_variant | MODIFIER | HG00738.hp2 NA18906.hp2 NA18950.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0160a0002c0003t0001g0025a0002c0003t0001g0026 | 3 | 308 | 0.0097 | 10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130072820 | T | TGCGCGCG others(3): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0232 | 1 | 308 | 0.0033 | 10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130072824 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 308 | 0.0033 | 10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130074440 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0084 | 1 | 308 | 0.0033 | 10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130074486 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 308 | 0.0033 | 10 | c.270 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130093666 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA18947.hp1 NA19065.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0125a0002c0002t0003g0197 | 2 | 308 | 0.0065 | 10 | c.240 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130101732 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02886.hp2 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0028a0001c0005t0007others(1): Show | a0001c0001t0001g0245a0001c0001t0028g0088a0001c0005t0007g0002others(1): Show | 4 | 308 | 0.0130 | 10 | c.240 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130121784 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0242 | 1 | 308 | 0.0033 | 10 | c.160 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 18/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130153350 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG01975.hp1 NA18947.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0047a0001c0001t0001g0241a0001c0001t0030g0046 | 3 | 308 | 0.0097 | 10 | c.101 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 12/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130153357 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03195.hp2 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0012a0004c0012t0027 | a0001c0001t0012g0296a0004c0012t0027g0233 | 2 | 308 | 0.0065 | 10 | c.101 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 12/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130215975 | A | AAAAGGAA others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02145.hp2 HG02293.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0102a0001c0001t0001g0227a0001c0001t0001g0255others(6): Show | 9 | 308 | 0.0292 | 10 | c.260 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130217537 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02630.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0011 | a0001c0001t0011g0015a0002c0002t0011g0235 | 2 | 308 | 0.0065 | 10 | c.260 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130256738 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0157 | 1 | 308 | 0.0033 | 10 | c.187 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar |