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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSL_chrX_2929521_2969341 | 2946322 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0117 | 1 | 328 | 0.0031 | -12 | c.855 others(27): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 6/10 | chrX | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3656355 | CTTATTTA others(5): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0057 | 1 | 394 | 0.0025 | -12 | c.-52 others(29): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ART1_chr11_3640128_3669416 | 3656378 | ATTTATTT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0073 | 1 | 394 | 0.0025 | -12 | c.-52 others(29): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ART4_chr12_14820569_14848526 | 14830536 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02683.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0002c0002t0002 | a0001c0001t0002g0165a0001c0001t0002g0306a0001c0001t0005g0143others(6): Show | 9 | 380 | 0.0237 | -12 | c.854 others(29): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14830649 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG03579.hp2 |
a0005a0006 | a0005c0006a0006c0007 | a0005c0006t0003a0006c0007t0003 | a0005c0006t0003g0120a0006c0007t0003g0319 | 2 | 380 | 0.0053 | -12 | c.854 others(29): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
ART4_chr12_14820569_14848526 | 14846617 | TTTCACAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0315 | 1 | 380 | 0.0026 | -12 | c.-35 others(23): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 3092 | chr12 | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230984351 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0194a0001c0001t0001g0195others(2): Show | 8 | 402 | 0.0199 | -12 | c.175 others(29): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARV1_chr1_230974094_231005733 | 230986666 | CTATTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(108): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(67): Show | 111 | 402 | 0.2761 | -12 | c.175 others(29): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARV1_chr1_230974094_231005733 | 230986668 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0133a0001c0001t0001g0134others(5): Show | 9 | 402 | 0.0224 | -12 | c.175 others(29): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARVCF_chr22_19964896_20021823 | 20020158 | AGTCTCAG others(5): Show |
A | upstream_gene_variant | MODIFIER | NA18983.hp1 | a0003 | a0003c0017 | a0003c0017t0006 | a0003c0017t0006g0243 | 1 | 374 | 0.0027 | -12 | c.-36 others(23): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 3336 | chr22 | TogoVar | ||||||
ARX_chrX_24998694_25020965 | 25001919 | CACACACA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 300 | 0.0033 | -12 | c.*27 others(23): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 1774 | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCAG others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00735.hp2 others(8): Show |
a0011a0024a0041others(3): Show | a0011c0008a0024c0023a0041c0041others(3): Show | a0011c0008t0005a0011c0008t0010a0011c0008t0011others(5): Show | a0011c0008t0005g0135a0011c0008t0005g0145a0011c0008t0005g0158others(8): Show | 11 | 193 | 0.0570 | -12 | c.228 others(19): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1354/10667 | 228/2763 | 76/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AR_chrX_67539021_67735619 | 67546514 | TGGCGGCG others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01358.hp1 HG01433.hp1 NA18953.hp1 others(2): Show |
a0028a0058a0062others(1): Show | a0028c0028a0058c0069a0062c0072others(1): Show | a0028c0028t0008a0058c0069t0002a0062c0072t0054others(1): Show | a0028c0028t0008g0011a0028c0028t0008g0012a0058c0069t0002g0033others(2): Show | 5 | 193 | 0.0259 | -12 | c.140 others(21): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2535/10667 | 1409/2763 | 470/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AR_chrX_67539021_67735619 | 67624904 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0022 | a0022c0021 | a0022c0021t0034 | a0022c0021t0034g0147 | 1 | 193 | 0.0052 | -12 | c.161 others(33): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67728574 | AATATATA others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19060.hp1 | a0070 | a0070c0085 | a0070c0085t0056 | a0070c0085t0056g0082 | 1 | 193 | 0.0052 | -12 | c.*47 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4763 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02056.hp1 HG02965.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0017 | a0001c0001t0001g0186a0001c0001t0001g0213a0001c0001t0001g0249others(5): Show | 8 | 362 | 0.0221 | -12 | c.886 others(29): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102888871 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0132 | 1 | 362 | 0.0028 | -12 | c.886 others(29): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102889635 | CCTTCCTT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00609.hp2 others(45): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0001a0001c0001t0003g0004a0001c0001t0003g0005others(40): Show | 48 | 362 | 0.1326 | -12 | c.886 others(27): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102906272 | AAAAAATA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01516.hp1 HG03492.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0013a0001c0009t0013 | a0001c0001t0013g0192a0001c0001t0013g0193a0001c0009t0013g0262 | 3 | 362 | 0.0083 | -12 | c.*55 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4374 | chr10 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50754891 | GGTGTGTG others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp2 others(68): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(6): Show | a0001c0001t0002g0002a0001c0001t0002g0011a0001c0001t0002g0013others(20): Show | 71 | 414 | 0.1715 | -12 | c.*18 others(21): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 186 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ASAH2_chr10_50179861_50256516 | 50187116 | TCTCACAC others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01891.hp1 others(12): Show |
a0002 | a0002c0001a0002c0006 | a0002c0001t0007a0002c0001t0111a0002c0001t0113others(2): Show | a0002c0001t0007g0003a0002c0001t0007g0038a0002c0001t0007g0044others(10): Show | 15 | 408 | 0.0368 | -12 | c.*18 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 187 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50187118 | TCACACAC others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02486.hp1 |
a0002 | a0002c0001a0002c0024 | a0002c0001t0041a0002c0024t0041 | a0002c0001t0041g0329a0002c0024t0041g0314 | 2 | 408 | 0.0049 | -12 | c.*18 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 185 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50212182 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0001 | a0002c0001t0021 | a0002c0001t0021g0175 | 1 | 408 | 0.0025 | -12 | c.122 others(29): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 10/20 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50221698 | GGATAGAT others(5): Show |
G | intron_variant | MODIFIER | HG03927.hp1 NA20129.hp1 |
a0005 | a0005c0012 | a0005c0012t0016 | a0005c0012t0016g0028 | 2 | 408 | 0.0049 | -12 | c.894 others(29): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130064893 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0040 | 1 | 308 | 0.0033 | -12 | c.270 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130070854 | AGAGGGAG others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01975.hp1 HG02055.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(11): Show | a0001c0001t0001g0042a0001c0001t0001g0047a0001c0001t0001g0048others(28): Show | 31 | 308 | 0.1007 | -12 | c.270 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130070902 | AGGGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG01975.hp1 HG02155.hp1 HG02155.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(9): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0051others(21): Show | 24 | 308 | 0.0779 | -12 | c.270 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130070941 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0242 | 1 | 308 | 0.0033 | -12 | c.270 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130097126 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019 | a0001c0001t0008g0011a0001c0001t0008g0017a0001c0001t0008g0021others(2): Show | 5 | 308 | 0.0162 | -12 | c.240 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130107515 | AATGTATG others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02004.hp1 HG02040.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0019a0002c0003t0001g0025a0002c0003t0001g0026others(5): Show | 8 | 308 | 0.0260 | -12 | c.240 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130108757 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0040 | 1 | 308 | 0.0033 | -12 | c.240 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130131153 | AAAACAAA others(5): Show |
A | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 308 | 0.0033 | -12 | c.121 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 15/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130151370 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 | 1 | 308 | 0.0033 | -12 | c.108 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 13/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130153347 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0285 | 1 | 308 | 0.0033 | -12 | c.101 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 12/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130161764 | CAAAATTC others(5): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0088 | 1 | 308 | 0.0033 | -12 | c.910 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 11/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130179834 | AACACAGT others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 308 | 0.0033 | -12 | c.661 others(27): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 8/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130197445 | CAAAAGAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp2 others(65): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(5): Show | a0002c0002t0001g0137a0002c0002t0003g0055a0002c0002t0003g0059others(65): Show | 68 | 308 | 0.2208 | -12 | c.406 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 5/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130230065 | AAAACAAA others(5): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0088 | 1 | 308 | 0.0033 | -12 | c.259 others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130256738 | CTTATATA others(5): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0037 | 1 | 308 | 0.0033 | -12 | c.187 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130256739 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00558.hp1 others(49): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0030a0002c0002t0003others(3): Show | a0001c0001t0001g0224a0001c0001t0001g0245a0001c0001t0001g0260others(49): Show | 52 | 308 | 0.1688 | -12 | c.187 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130262416 | AAGAGAGA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0003 | a0003c0010 | a0003c0010t0019 | a0003c0010t0019g0287 | 1 | 308 | 0.0033 | -12 | c.187 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130268490 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02922.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0010 | a0002c0002t0006g0303a0002c0002t0006g0304a0002c0002t0006g0305others(3): Show | 6 | 308 | 0.0195 | -12 | c.187 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130276722 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0279 | 1 | 308 | 0.0033 | -12 | c.187 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130283583 | GAAAGAAA others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(99): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0002c0002t0001g0014others(99): Show | 102 | 308 | 0.3312 | -12 | c.187 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130340948 | TTTTTTGT others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01123.hp1 others(9): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001a0002c0003t0010 | a0002c0002t0001g0072a0002c0003t0001g0019a0002c0003t0001g0022others(9): Show | 12 | 308 | 0.0390 | -12 | c.186 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130373109 | TATACACA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG02738.hp1 HG04184.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0032a0002c0002t0001 | a0001c0001t0032g0297a0002c0002t0001g0104a0002c0002t0001g0105 | 3 | 308 | 0.0097 | -12 | c.60- others(29): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130445972 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01168.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0001g0108a0002c0002t0001g0092a0002c0002t0003g0109others(16): Show | 19 | 308 | 0.0617 | -12 | c.-25 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2299 | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9274317 | ATCTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0042 | 1 | 210 | 0.0048 | -12 | c.127 others(29): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9348110 | TTTTGTCT others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01515.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0002c0001t0001 | a0001c0002t0003g0050a0002c0001t0001g0111 | 2 | 210 | 0.0095 | -12 | c.102 others(31): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9352212 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(95): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(9): Show | a0001c0002t0001g0097a0001c0002t0002g0073a0001c0002t0003g0148others(95): Show | 98 | 210 | 0.4667 | -12 | c.111 others(31): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |