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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARMC9_chr2_231193631_231381848 | 231200675 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(38): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0033a0001c0001t0039a0001c0003t0001others(28): Show | a0001c0001t0033g0157 a0001c0001t0039g0119 a0001c0003t0001g0005 others(38): Show |
41 | 198 | 0.2071 | 9 | c.-42 others(26): Show |
ARMC9 | ENSG00000135931.19 | transcript | ENST00000611582.5 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARMH4_chr14_57995761_58157213 | 58085383 | C | CTAGATGT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(101): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0005a0003c0003others(7): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(34): Show | a0002c0002t0001g0118 a0002c0002t0001g0168 a0002c0002t0001g0173 others(101): Show |
104 | 256 | 0.4063 | 9 | c.208 others(30): Show |
ARMH4 | ENSG00000139971.15 | transcript | ENST00000267485.7 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
ARMH4_chr14_57995761_58157213 | 58094329 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02970.hp2 others(2): Show |
a0002a0003a0004 | a0002c0005a0003c0009a0004c0011 | a0002c0005t0003a0002c0005t0018a0002c0005t0036others(2): Show | a0002c0005t0003g0207 a0002c0005t0018g0006 a0002c0005t0036g0256 others(2): Show |
5 | 123 | 0.0407 | 9 | c.208 others(28): Show |
ARMH4 | ENSG00000139971.15 | transcript | ENST00000267485.7 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
ARMH4_chr14_57995761_58157213 | 58132581 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00673.hp2 others(16): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0118 a0002c0002t0001g0182 a0002c0002t0001g0187 others(16): Show |
19 | 156 | 0.1218 | 9 | c.162 others(26): Show |
ARMH4 | ENSG00000139971.15 | transcript | ENST00000267485.7 | protein_coding | 3/7 | chr14 | TogoVar | |||||||
ARMH4_chr14_57995761_58157213 | 58145197 | G | GGTCCCTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(77): Show |
a0002a0003a0005 | a0002c0002a0002c0005a0002c0016others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(18): Show | a0002c0002t0001g0118 a0002c0002t0001g0168 a0002c0002t0001g0173 others(77): Show |
80 | 256 | 0.3125 | 9 | c.-56 others(26): Show |
ARMH4 | ENSG00000139971.15 | transcript | ENST00000267485.7 | protein_coding | 1/7 | chr14 | TogoVar | |||||||
ARMH4_chr14_57995761_58157213 | 58153341 | T | TTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG02257.hp2 HG03471.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0115 a0001c0001t0002g0001 a0001c0001t0008g0040 others(2): Show |
5 | 65 | 0.0769 | 9 | c.-13 others(20): Show |
ARMH4 | ENSG00000139971.15 | transcript | ENST00000267485.7 | protein_coding | 1129 | chr14 | TogoVar | |||||||
ARMT1_chr6_151447466_151475101 | 151449060 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02615.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0018 others(2): Show |
12 | 146 | 0.0822 | 9 | c.-34 others(20): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 3405 | chr6 | TogoVar | |||||||
ARMT1_chr6_151447466_151475101 | 151472825 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 NA18978.hp2 NA19070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0033 |
4 | 385 | 0.0104 | 9 | c.*37 others(20): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 2725 | chr6 | TogoVar | |||||||
ARNT2_chr15_80399382_80602933 | 80505927 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02083.hp1 HG02818.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0045 a0001c0001t0001g0201 a0001c0001t0001g0228 others(10): Show |
13 | 20 | 0.6500 | 9 | c.623 others(26): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARPC1A_chr7_99320898_99371262 | 99338378 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0165 a0001c0001t0001g0168 others(4): Show |
8 | 139 | 0.0576 | 9 | c.169 others(24): Show |
ARPC1A | ENSG00000241685.10 | transcript | ENST00000262942.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ARPC1A_chr7_99320898_99371262 | 99344920 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0167 others(6): Show |
9 | 141 | 0.0638 | 9 | c.392 others(24): Show |
ARPC1A | ENSG00000241685.10 | transcript | ENST00000262942.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ARPC3_chr12_110429823_110455337 | 110450831 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG01891.hp2 HG02451.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(7): Show |
11 | 22 | 0.5000 | 9 | c.-57 others(18): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 495 | chr12 | TogoVar | |||||||
ARPP19_chr15_52542045_52574030 | 52544138 | C | CTTTCTTT others(2): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 NA19081.hp2 NA19089.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0025 a0001c0001t0007g0056 a0001c0001t0007g0057 |
4 | 419 | 0.0095 | 9 | c.*77 others(20): Show |
ARPP19 | ENSG00000128989.11 | transcript | ENST00000249822.9 | protein_coding | 2906 | chr15 | TogoVar | |||||||
ARPP21_chr3_35634525_35799486 | 35667841 | A | AAAGAAGA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01099.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0134 a0001c0001t0001g0229 a0001c0001t0002g0224 others(6): Show |
9 | 158 | 0.0570 | 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 | 35667885 | A | AGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01978.hp2 HG03453.hp2 others(4): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0003t0001g0109 a0001c0003t0002g0162 a0001c0003t0003g0078 others(4): Show |
7 | 212 | 0.0330 | 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 | 35668014 | G | GAAGAAGA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03486.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0006t0001g0261 |
3 | 262 | 0.0115 | 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 | a0001c0004t0001g0131 a0001c0004t0001g0132 |
2 | 251 | 0.0080 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(13): Show |
54 | 106 | 0.5094 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0002c0002t0001g0013 others(16): Show |
32 | 159 | 0.2013 | 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 | a0001c0001t0001g0011 a0001c0001t0001g0082 a0001c0001t0001g0107 others(7): Show |
10 | 230 | 0.0435 | 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 | a0001c0002t0001g0376 a0001c0002t0002g0361 a0001c0002t0002g0363 others(4): Show |
7 | 13 | 0.5385 | 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 | a0002c0003t0001g0006 a0002c0003t0001g0028 a0002c0003t0001g0029 |
3 | 409 | 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 | a0001c0001t0001g0344 a0001c0001t0002g0070 a0001c0004t0001g0008 others(3): Show |
7 | 166 | 0.0422 | 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 | a0001c0001t0011g0032 a0001c0003t0001g0047 a0002c0002t0013g0300 others(1): Show |
4 | 37 | 0.1081 | 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 |
a0001a0007 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0189 a0001c0001t0001g0276 a0001c0001t0001g0277 others(16): Show |
19 | 293 | 0.0648 | 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 | a0002c0002t0002g0295 a0002c0002t0002g0312 a0002c0002t0007g0080 others(3): Show |
6 | 119 | 0.0504 | 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 | a0001c0001t0001g0086 a0001c0001t0001g0226 a0001c0001t0002g0236 others(7): Show |
10 | 123 | 0.0813 | 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(59): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0013a0001c0003t0006others(32): Show | a0001c0001t0002g0317 a0001c0001t0013g0177 a0001c0001t0013g0328 others(59): Show |
62 | 79 | 0.7848 | 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 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 others(83): Show |
86 | 358 | 0.2402 | 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 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 others(83): Show |
86 | 145 | 0.5931 | 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 | a0001c0001t0003g0293 a0001c0001t0003g0340 a0001c0001t0009g0176 others(4): Show |
7 | 100 | 0.0700 | 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 | a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0037 others(2): Show |
5 | 191 | 0.0262 | 9 | c.-48 others(20): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4627 | 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 | a0001c0001t0001g0079 a0001c0001t0001g0140 a0001c0001t0001g0158 others(6): Show |
9 | 44 | 0.2045 | 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 | a0001c0003t0001g0005 a0003c0004t0001g0051 a0003c0004t0001g0057 others(28): Show |
31 | 242 | 0.1281 | 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 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(6): Show |
9 | 246 | 0.0366 | 9 | c.-20 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2003 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3012605 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02004.hp1 HG03834.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(8): Show |
11 | 98 | 0.1122 | 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 | 3036843 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 a0001c0002t0002g0200 a0001c0002t0002g0201 others(2): Show |
5 | 246 | 0.0203 | 9 | c.*34 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2733 | 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 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0002g0023 others(7): Show |
10 | 315 | 0.0317 | 9 | c.307 others(24): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 4/10 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0036 a0001c0001t0001g0037 others(2): Show |
6 | 150 | 0.0400 | 9 | c.175 others(26): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67545316 | T | TGCAGCAG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00609.hp1 HG00673.hp1 HG01069.hp1 others(18): Show |
a0003 | a0003c0002a0003c0021a0003c0034 | a0003c0002t0001a0003c0002t0002a0003c0002t0003others(9): Show | a0003c0002t0001g0023 a0003c0002t0001g0027 a0003c0002t0001g0055 others(18): Show |
21 | 45 | 0.4667 | 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 | ||
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 | a0001c0001t0005g0003 a0001c0001t0005g0100 a0001c0001t0005g0101 others(5): Show |
10 | 38 | 0.2632 | 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 | a0001c0001t0001g0165 a0001c0001t0001g0215 a0001c0001t0001g0219 others(2): Show |
5 | 287 | 0.0174 | 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 | a0002c0002t0003g0065 a0002c0002t0003g0110 a0002c0002t0003g0115 others(13): Show |
16 | 162 | 0.0988 | 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 | a0001c0001t0001g0014 a0001c0005t0001g0166 a0001c0005t0005g0285 others(9): Show |
12 | 79 | 0.1519 | 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 | a0001c0002t0003g0050 a0001c0002t0003g0052 a0001c0002t0003g0142 others(7): Show |
10 | 185 | 0.0541 | 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 | a0001c0003t0004g0043 a0001c0003t0004g0175 |
2 | 106 | 0.0189 | 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 | a0001c0002t0001g0024 a0001c0002t0001g0134 a0001c0003t0001g0017 others(10): Show |
13 | 168 | 0.0774 | 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 | a0001c0002t0001g0097 a0001c0002t0003g0027 a0001c0002t0003g0050 others(28): Show |
31 | 142 | 0.2183 | 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 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0004a0005c0009t0001 | a0001c0001t0001g0014 a0001c0001t0001g0171 a0001c0001t0001g0172 others(12): Show |
16 | 296 | 0.0541 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0042 others(19): Show |
23 | 75 | 0.3067 | 9 | c.129 others(28): Show |
ASAP3 | ENSG00000088280.21 | transcript | ENST00000336689.8 | protein_coding | 1/24 | chr1 | TogoVar |