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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARPP21_chr3_35634525_35799486 | 35668014 | G | GAAGAAGA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03486.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0258a0001c0001t0001g0259a0001c0006t0001g0261 | 3 | 266 | 0.0113 | 9 | c.-21 others(30): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARPP21_chr3_35634525_35799486 | 35668027 | A | AAGAAGAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01175.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0129a0001c0004t0001g0132 | 2 | 266 | 0.0075 | 9 | c.-21 others(30): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARRDC1_chr9_137600686_137620360 | 137600821 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(51): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0011others(1): Show | a0001c0001t0001a0001c0009t0001a0001c0011t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(13): Show | 54 | 338 | 0.1598 | 9 | c.-48 others(20): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4864 | chr9 | TogoVar | ||||||
ARRDC4_chr15_97955703_97978833 | 97957254 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01109.hp1 others(29): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0012others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0002c0002t0001g0013others(16): Show | 32 | 422 | 0.0758 | 9 | c.-36 others(20): Show |
ARRDC4 | ENSG00000140450.9 | transcript | ENST00000268042.7 | protein_coding | 3448 | chr15 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4886710 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 NA18950.hp1 NA18959.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0085a0001c0001t0001g0103others(7): Show | 10 | 412 | 0.0243 | 9 | c.*43 others(20): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3726 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4894510 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01258.hp1 HG01346.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0391a0001c0002t0002g0376a0001c0002t0002g0378others(4): Show | 7 | 412 | 0.0170 | 9 | c.459 others(26): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4896349 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02922.hp2 NA19240.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0017a0002c0003t0001g0019a0002c0003t0001g0021 | 3 | 412 | 0.0073 | 9 | c.459 others(24): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4898665 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02818.hp1 HG03130.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0359a0001c0001t0002g0063a0001c0004t0001g0025others(4): Show | 7 | 412 | 0.0170 | 9 | c.254 others(26): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78812592 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18947.hp1 NA18954.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0011a0001c0003t0001a0002c0002t0013others(1): Show | a0001c0001t0011g0033a0001c0003t0001g0048a0002c0002t0013g0300others(1): Show | 4 | 360 | 0.0111 | 9 | c.121 others(30): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841132 | G | GTACTACT others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01891.hp2 HG02135.hp1 others(16): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0245a0001c0001t0001g0263a0001c0001t0001g0265others(16): Show | 19 | 360 | 0.0528 | 9 | c.114 others(28): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18612.hp2 NA18946.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0014others(2): Show | a0002c0002t0002g0295a0002c0002t0002g0312a0002c0002t0007g0081others(3): Show | 6 | 360 | 0.0167 | 9 | c.114 others(28): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78841168 | C | CTACTACT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01106.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0087a0001c0001t0001g0135a0001c0001t0002g0145others(7): Show | 10 | 360 | 0.0278 | 9 | c.114 others(28): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78873498 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0013a0001c0003t0006others(32): Show | a0001c0001t0002g0317a0001c0001t0013g0227a0001c0001t0013g0329others(60): Show | 63 | 360 | 0.1750 | 9 | c.114 others(30): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78888724 | A | ATAGGAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(83): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0027others(83): Show | 86 | 360 | 0.2389 | 9 | c.899 others(26): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78905344 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(83): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0027others(83): Show | 86 | 360 | 0.2389 | 9 | c.899 others(28): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78962524 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02615.hp2 HG03540.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(3): Show | a0001c0001t0003g0293a0001c0001t0003g0339a0001c0001t0009g0226others(4): Show | 7 | 360 | 0.0194 | 9 | c.690 others(26): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 3/7 | chr5 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3036843 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0033a0001c0001t0001g0034others(2): Show | 5 | 193 | 0.0259 | 9 | c.-48 others(20): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4627 | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3036884 | A | AAAATATT others(2): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0028 | 1 | 193 | 0.0052 | 9 | c.-48 others(20): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4586 | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3037204 | T | TATATATA others(2): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 193 | 0.0052 | 9 | c.-44 others(20): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4266 | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3077789 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01168.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0004others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0075a0001c0001t0001g0140a0001c0001t0001g0159others(6): Show | 9 | 193 | 0.0466 | 9 | c.283 others(26): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSG_chr17_68286495_68425814 | 68393867 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG01109.hp2 others(28): Show |
a0001a0003a0004others(1): Show | a0001c0003a0003c0004a0003c0010others(2): Show | a0001c0003t0001a0003c0004t0001a0003c0004t0002others(5): Show | a0001c0003t0001g0005a0003c0004t0001g0051a0003c0004t0001g0057others(28): Show | 31 | 304 | 0.1020 | 9 | c.109 others(28): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3004542 | A | AAACAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(6): Show | 9 | 248 | 0.0363 | 9 | c.-20 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2003 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3012564 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 248 | 0.0040 | 9 | c.215 others(24): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3012568 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0212a0005c0008t0004g0213 | 2 | 248 | 0.0081 | 9 | c.215 others(24): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3012568 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0032 | 2 | 248 | 0.0081 | 9 | c.215 others(24): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3012605 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02004.hp1 HG03834.hp2 others(8): Show |
a0001a0009a0010 | a0001c0001a0009c0011a0010c0013 | a0001c0001t0001a0009c0011t0001a0010c0013t0011 | a0001c0001t0001g0032a0001c0001t0001g0036a0001c0001t0001g0056others(8): Show | 11 | 248 | 0.0444 | 9 | c.215 others(24): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3021881 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 248 | 0.0040 | 9 | c.902 others(26): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 5/8 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036843 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0221a0001c0002t0002g0222a0001c0002t0002g0225others(2): Show | 5 | 248 | 0.0202 | 9 | c.*34 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2733 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036884 | A | AAAATATT others(2): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0224 | 1 | 248 | 0.0040 | 9 | c.*34 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2774 | chrX | TogoVar | ||||||
ARSL_chrX_2929521_2969341 | 2954628 | G | GTATTATT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01891.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002a0002c0003t0009 | a0002c0003t0001g0209a0002c0003t0001g0210a0002c0003t0002g0020others(7): Show | 10 | 328 | 0.0305 | 9 | c.307 others(24): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 4/10 | chrX | TogoVar | ||||||
ARSL_chrX_2929521_2969341 | 2957220 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0082 | 1 | 328 | 0.0031 | 9 | c.185 others(26): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 3/10 | chrX | TogoVar | ||||||
ARV1_chr1_230974094_231005733 | 230986668 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02293.hp2 NA18946.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0171a0001c0001t0001g0172others(2): Show | 6 | 402 | 0.0149 | 9 | c.175 others(26): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARX_chrX_24998694_25020965 | 25018663 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 300 | 0.0033 | 9 | c.-29 others(20): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2699 | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67545316 | T | TGCAGCAG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00609.hp1 HG00673.hp1 HG01069.hp1 others(18): Show |
a0002a0010a0031others(1): Show | a0002c0002a0010c0014a0010c0078others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0028a0002c0002t0001g0057a0002c0002t0001g0092others(18): Show | 21 | 193 | 0.1088 | 9 | c.231 others(16): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1366/10667 | 240/2763 | 80/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AR_chrX_67539021_67735619 | 67546514 | T | TGGCGGCG others(2): Show |
disruptive_inframe_insertion | MODERATE | NA18612.hp1 | a0066 | a0066c0076 | a0066c0076t0003 | a0066c0076t0003g0040 | 1 | 193 | 0.0052 | 9 | c.141 others(18): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2547/10667 | 1421/2763 | 474/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AS3MT_chr10_102864470_102906899 | 102871546 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01071.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004 | a0001c0001t0005g0006a0001c0001t0005g0089a0001c0001t0005g0090others(6): Show | 10 | 362 | 0.0276 | 9 | c.171 others(24): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAP1_chr8_130047104_130448674 | 130071003 | G | GAGAGAGA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164a0001c0001t0001g0214a0001c0001t0001g0218others(2): Show | 5 | 308 | 0.0162 | 9 | c.270 others(28): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130093666 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp2 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0015a0002c0002t0020others(1): Show | a0002c0002t0003g0065a0002c0002t0003g0110a0002c0002t0003g0115others(13): Show | 16 | 308 | 0.0520 | 9 | c.240 others(28): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130101732 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01167.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(4): Show | a0001c0001t0001g0016a0001c0005t0001g0166a0001c0005t0005g0285others(9): Show | 12 | 308 | 0.0390 | 9 | c.240 others(28): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9202482 | A | AAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01257.hp2 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0003a0001c0002t0008a0001c0002t0012others(5): Show | a0001c0002t0003g0050a0001c0002t0003g0052a0001c0002t0003g0142others(7): Show | 10 | 210 | 0.0476 | 9 | c.-46 others(20): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 4329 | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9254254 | T | TTATATAT others(2): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03579.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0043a0001c0003t0004g0175 | 2 | 210 | 0.0095 | 9 | c.127 others(28): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9367027 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0004others(3): Show | a0001c0002t0001g0024a0001c0002t0001g0133a0001c0003t0001g0017others(10): Show | 13 | 210 | 0.0619 | 9 | c.146 others(28): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9387213 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00609.hp1 others(28): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0012others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0006others(6): Show | a0001c0002t0001g0097a0001c0002t0003g0026a0001c0002t0003g0050others(28): Show | 31 | 210 | 0.1476 | 9 | c.213 others(28): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASAP3_chr1_23423563_23489179 | 23467173 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02572.hp2 HG02622.hp1 others(13): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0004a0007c0009t0001 | a0001c0001t0001g0014a0001c0001t0001g0171a0001c0001t0001g0172others(12): Show | 16 | 346 | 0.0462 | 9 | c.130 others(28): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
ASAP3_chr1_23423563_23489179 | 23473974 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01934.hp2 HG01993.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0005a0001c0001t0001g0041a0001c0001t0001g0042others(19): Show | 23 | 346 | 0.0665 | 9 | c.129 others(28): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15306703 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0012 | 2 | 306 | 0.0065 | 9 | c.182 others(26): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15316407 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0031 | 1 | 306 | 0.0033 | 9 | c.-80 others(18): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 768 | chrX | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15317738 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009 | a0001c0001t0008g0012a0001c0001t0009g0103 | 3 | 306 | 0.0098 | 9 | c.-21 others(20): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 2099 | chrX | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5652026 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18942.hp1 NA18948.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0178a0001c0001t0001g0226others(6): Show | 9 | 446 | 0.0202 | 9 | c.232 others(24): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 2/5 | chr10 | TogoVar | ||||||
ASB16_chr17_44165704_44184084 | 44172727 | A | ATGATTCT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(237): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0011a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(111): Show | 240 | 362 | 0.6630 | 9 | c.569 others(24): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |