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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ART4_chr12_14820569_14848526 | 14846617 | TTTCACAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 378 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0145 others(2): Show |
8 | 400 | 0.0200 | -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 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(61): Show |
111 | 372 | 0.2984 | -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 | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0040 others(5): Show |
9 | 153 | 0.0588 | -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 | a0003c0017t0006g0242 | 1 | 372 | 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 | 298 | 0.0034 | -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 |
a0008 | a0008c0007a0008c0017 | a0008c0007t0006a0008c0007t0010a0008c0007t0011others(4): Show | a0008c0007t0006g0133 a0008c0007t0006g0140 a0008c0007t0006g0150 others(8): Show |
11 | 35 | 0.3143 | -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 |
a0002a0003a0004others(1): Show | a0002c0005a0003c0002a0004c0004others(1): Show | a0002c0005t0007a0003c0002t0001a0004c0004t0047others(1): Show | a0002c0005t0007g0010 a0002c0005t0007g0011 a0003c0002t0001g0023 others(2): Show |
5 | 85 | 0.0588 | -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 | a0013 | a0013c0019 | a0013c0019t0029 | a0013c0019t0029g0152 | 1 | 67 | 0.0149 | -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 | a0019 | a0019c0037 | a0019c0037t0049 | a0019c0037t0049g0082 | 1 | 26 | 0.0385 | -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 | a0001c0001t0001a0001c0001t0010a0001c0001t0016 | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0212 others(5): Show |
8 | 197 | 0.0406 | -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 | a0001c0011t0002g0143 | 1 | 345 | 0.0029 | -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 | a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0011 others(39): Show |
48 | 360 | 0.1333 | -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 | a0001c0001t0013g0193 a0001c0001t0013g0194 a0001c0009t0013g0248 |
3 | 350 | 0.0086 | -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 | a0001c0001t0002a0001c0001t0013a0001c0001t0014others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 others(20): Show |
71 | 248 | 0.2863 | -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 | a0002c0001t0009a0002c0001t0012a0002c0001t0050others(2): Show | a0002c0001t0009g0005 a0002c0001t0009g0049 a0002c0001t0009g0055 others(10): Show |
15 | 383 | 0.0392 | -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 | a0002c0001t0023a0002c0024t0023 | a0002c0001t0023g0315 a0002c0024t0023g0302 |
2 | 283 | 0.0071 | -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 | a0002c0001t0003 | a0002c0001t0003g0181 | 1 | 194 | 0.0052 | -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 | a0005c0012t0001 | a0005c0012t0001g0034 | 2 | 69 | 0.0290 | -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 | 106 | 0.0094 | -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 | a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 others(28): Show |
31 | 306 | 0.1013 | -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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 others(21): Show |
24 | 271 | 0.0886 | -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 | 299 | 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 | a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0021 others(2): Show |
5 | 35 | 0.1429 | -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 | a0002c0003t0001g0017 a0002c0003t0001g0025 a0002c0003t0001g0026 others(5): Show |
8 | 91 | 0.0879 | -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 | 42 | 0.0238 | -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 | 118 | 0.0085 | -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 | 23 | 0.0435 | -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 | 306 | 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 | 306 | 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 | a0001c0001t0001g0216 | 1 | 306 | 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 | a0002c0002t0001g0137 a0002c0002t0003g0055 a0002c0002t0003g0059 others(65): Show |
68 | 306 | 0.2222 | -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 | 12 | 0.0833 | -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 | 244 | 0.0041 | -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 | a0001c0001t0001g0224 a0001c0001t0001g0245 a0001c0001t0001g0260 others(49): Show |
52 | 117 | 0.4444 | -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 | 216 | 0.0046 | -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 | a0002c0002t0006g0303 a0002c0002t0006g0304 a0002c0002t0006g0305 others(3): Show |
6 | 46 | 0.1304 | -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 | 296 | 0.0034 | -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(98): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0002c0002t0001g0012 others(98): Show |
101 | 147 | 0.6871 | -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 | a0002c0002t0001g0072 a0002c0003t0001g0017 a0002c0003t0001g0022 others(9): Show |
12 | 306 | 0.0392 | -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 | a0001c0001t0032g0297 a0002c0002t0001g0104 a0002c0002t0001g0105 |
3 | 96 | 0.0313 | -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 | a0001c0001t0001g0108 a0002c0002t0001g0092 a0002c0002t0003g0109 others(16): Show |
19 | 63 | 0.3016 | -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 | a0001c0002t0003g0050 a0002c0001t0001g0111 |
2 | 198 | 0.0101 | -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 | a0001c0002t0001g0097 a0001c0002t0002g0073 a0001c0002t0003g0148 others(95): Show |
98 | 108 | 0.9074 | -12 | c.111 others(31): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9361974 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(18): Show |
a0001a0002 | a0001c0003a0001c0011a0002c0008 | a0001c0003t0001a0001c0003t0006a0001c0003t0011others(4): Show | a0001c0003t0001g0017 a0001c0003t0001g0029 a0001c0003t0001g0046 others(18): Show |
21 | 81 | 0.2593 | -12 | c.146 others(31): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP3_chr1_23423563_23489179 | 23424658 | CGAGGGGC others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 344 | 0.0029 | -12 | c.*51 others(23): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 3904 | chr1 | TogoVar | |||||||
ASAP3_chr1_23423563_23489179 | 23425176 | CGTGTGTG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01175.hp2 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0002 | a0001c0001t0002g0231 a0001c0001t0002g0286 a0001c0001t0002g0304 others(3): Show |
6 | 36 | 0.1667 | -12 | c.*46 others(23): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 3386 | chr1 | TogoVar | |||||||
ASAP3_chr1_23423563_23489179 | 23428172 | AACAGAGA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 344 | 0.0029 | -12 | c.*16 others(23): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 390 | chr1 | TogoVar | |||||||
ASAP3_chr1_23423563_23489179 | 23440500 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19080.hp2 NA19084.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 a0001c0001t0002g0245 a0001c0001t0002g0323 |
3 | 103 | 0.0291 | -12 | c.944 others(27): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 10/24 | chr1 | TogoVar |