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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSG_chr17_68286495_68425814 | 68324070 | CAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG02056.hp2 HG02109.hp2 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0030 others(8): Show |
11 | 180 | 0.0611 | -3 | c.218 others(22): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68329751 | GGAA | G | intron_variant | MODIFIER | HG02027.hp1 NA18970.hp2 NA18979.hp1 others(2): Show |
a0003a0004a0007 | a0003c0004a0004c0006a0007c0011 | a0003c0004t0001a0004c0006t0001a0004c0006t0002others(1): Show | a0003c0004t0001g0194 a0004c0006t0001g0248 a0004c0006t0002g0268 others(2): Show |
5 | 302 | 0.0166 | -3 | c.219 others(22): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68333631 | AAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(119): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(20): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 others(119): Show |
122 | 156 | 0.7821 | -3 | c.219 others(20): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68366242 | AAAT | A | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00642.hp1 others(56): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0005a0001c0009others(12): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(17): Show | a0001c0003t0001g0005 a0001c0003t0001g0010 a0001c0003t0001g0058 others(56): Show |
59 | 302 | 0.1954 | -3 | c.705 others(20): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68372877 | ATTT | A | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02572.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0210 a0001c0003t0001g0005 a0001c0003t0001g0119 others(7): Show |
10 | 69 | 0.1449 | -3 | c.982 others(20): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68417733 | ATTT | A | intron_variant | MODIFIER | HG00438.hp2 HG02055.hp2 HG02738.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0005a0001c0009others(5): Show | a0001c0003t0001a0001c0005t0001a0001c0009t0001others(6): Show | a0001c0003t0001g0139 a0001c0005t0001g0077 a0001c0009t0001g0049 others(8): Show |
11 | 49 | 0.2245 | -3 | c.130 others(22): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68418444 | GACA | G | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00642.hp2 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0044 others(42): Show |
45 | 302 | 0.1490 | -3 | c.130 others(22): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68425382 | CTTT | C | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00642.hp2 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0044 others(42): Show |
45 | 113 | 0.3982 | -3 | c.*49 others(14): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 4569 | chr17 | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3001922 | TCAA | T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(6): Show |
10 | 246 | 0.0407 | -3 | c.-46 others(14): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 4623 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3007247 | TAAA | T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02451.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0005 | a0001c0001t0001a0001c0007t0002a0003c0005t0005 | a0001c0001t0001g0189 a0001c0007t0002g0196 a0001c0007t0002g0197 others(3): Show |
7 | 27 | 0.2593 | -3 | c.92+ others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3019264 | CAAA | C | intron_variant | MODIFIER | HG01099.hp1 HG01975.hp2 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0074 others(3): Show |
6 | 22 | 0.2727 | -3 | c.901 others(18): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3031132 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(204): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(173): Show |
207 | 239 | 0.8661 | -3 | c.132 others(22): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036657 | ATAT | A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02809.hp2 NA20129.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0207 others(1): Show |
4 | 245 | 0.0163 | -3 | c.*32 others(14): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2547 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036815 | ATAT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01168.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0002t0002a0002c0004t0002others(1): Show | a0001c0001t0002g0089 a0001c0002t0002g0204 a0001c0002t0002g0206 others(6): Show |
9 | 246 | 0.0366 | -3 | c.*34 others(14): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2705 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3037019 | ATAT | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01070.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0062 others(4): Show |
7 | 221 | 0.0317 | -3 | c.*36 others(14): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2909 | chrX | TogoVar | |||||||
ARSJ_chr4_113895284_113984647 | 113910600 | CTCT | C | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02280.hp2 others(10): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0007a0001c0001t0009a0001c0001t0012others(3): Show | a0001c0001t0007g0014 a0001c0001t0007g0150 a0001c0001t0007g0154 others(9): Show |
13 | 348 | 0.0374 | -3 | c.399 others(20): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ARSK_chr5_95550101_95610102 | 95553160 | CACA | C | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02886.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0176 a0003c0003t0002g0167 a0003c0003t0002g0168 others(3): Show |
6 | 334 | 0.0180 | -3 | c.-21 others(14): Show |
ARSK | ENSG00000164291.17 | transcript | ENST00000380009.9 | protein_coding | 1940 | chr5 | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2939864 | CTTT | C | intron_variant | MODIFIER | HG01081.hp1 HG01169.hp2 HG01516.hp1 others(12): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0121 others(12): Show |
15 | 99 | 0.1515 | -3 | c.112 others(22): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 8/10 | chrX | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2940672 | CCTG | C | intron_variant | MODIFIER | HG00597.hp2 HG01123.hp2 HG01261.hp1 others(25): Show |
a0002a0003a0005 | a0002c0002a0002c0012a0002c0016others(2): Show | a0002c0002t0003a0002c0002t0004a0002c0012t0003others(4): Show | a0002c0002t0003g0006 a0002c0002t0003g0065 a0002c0002t0003g0070 others(24): Show |
28 | 326 | 0.0859 | -3 | c.112 others(22): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 8/10 | chrX | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2944961 | GGAA | G | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02723.hp1 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0001a0004c0006t0002 | a0004c0006t0001g0243 a0004c0006t0002g0027 a0004c0006t0002g0033 others(3): Show |
6 | 326 | 0.0184 | -3 | c.991 others(20): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 7/10 | chrX | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2963533 | CTTT | C | intron_variant | MODIFIER | HG01261.hp1 HG02055.hp1 HG02109.hp2 others(6): Show |
a0002 | a0002c0002a0002c0003a0002c0004 | a0002c0002t0002a0002c0002t0004a0002c0002t0008others(2): Show | a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0016 others(5): Show |
9 | 232 | 0.0388 | -3 | c.-21 others(18): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 1/10 | chrX | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3640567 | CTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01192.hp1 HG02280.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0072 others(16): Show |
20 | 26 | 0.7692 | -3 | c.-46 others(14): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4560 | chr11 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3642244 | CGGA | C | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02004.hp1 HG02055.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 others(16): Show |
19 | 369 | 0.0515 | -3 | c.-29 others(14): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 2883 | chr11 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3643529 | AAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00673.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(17): Show |
22 | 392 | 0.0561 | -3 | c.-17 others(14): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1598 | chr11 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3663086 | CTCA | C | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 NA19056.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0280 a0002c0002t0001g0166 a0002c0002t0001g0246 |
3 | 392 | 0.0077 | -3 | c.887 others(19): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3668665 | AGAC | A | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02818.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0023 a0001c0001t0001g0073 a0001c0001t0001g0123 others(2): Show |
6 | 392 | 0.0153 | -3 | c.*44 others(14): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4250 | chr11 | TogoVar | |||||||
ART3_chr4_76069709_76117786 | 76109561 | AAAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(85): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(7): Show | a0001c0001t0001g0059 a0001c0001t0002g0220 a0001c0001t0002g0224 others(53): Show |
88 | 390 | 0.2256 | -3 | c.103 others(22): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 11/11 | chr4 | TogoVar | |||||||
ART3_chr4_76069709_76117786 | 76110253 | TACA | T | intron_variant | MODIFIER | HG02132.hp1 NA18943.hp2 NA18962.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0084 a0001c0001t0001g0085 others(2): Show |
10 | 390 | 0.0256 | -3 | c.103 others(22): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76112749 | ATAC | A | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(79): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0006 | a0002c0002t0003a0002c0002t0006a0004c0004t0003others(2): Show | a0002c0002t0003g0001 a0002c0002t0003g0014 a0002c0002t0003g0015 others(47): Show |
82 | 390 | 0.2103 | -3 | c.*23 others(12): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 12/12 | 232 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ART3_chr4_76069709_76117786 | 76114202 | CTCT | C | downstream_gene_variant | MODIFIER | HG00609.hp1 NA18945.hp2 NA18946.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0001 a0002c0002t0003g0046 a0002c0002t0003g0065 others(1): Show |
10 | 390 | 0.0256 | -3 | c.*16 others(14): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 1417 | chr4 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14831271 | ATTT | A | intron_variant | MODIFIER | HG01261.hp1 HG02965.hp1 HG02970.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0222 others(5): Show |
10 | 165 | 0.0606 | -3 | c.854 others(20): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
ART4_chr12_14820569_14848526 | 14841382 | TCCC | T | intron_variant | MODIFIER | HG02015.hp2 HG02083.hp1 HG02165.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0325 a0001c0001t0001g0326 others(9): Show |
14 | 378 | 0.0370 | -3 | c.145 others(18): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
ART5_chr11_3633512_3646992 | 3640567 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01192.hp2 HG02280.hp2 others(16): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0002others(4): Show | a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0066 others(10): Show |
19 | 26 | 0.7308 | -3 | c.58- others(16): Show |
ART5 | ENSG00000167311.14 | transcript | ENST00000397068.8 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ART5_chr11_3633512_3646992 | 3642244 | CGGA | C | upstream_gene_variant | MODIFIER | HG01192.hp2 HG02004.hp2 HG02055.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0018a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0014others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 others(12): Show |
24 | 428 | 0.0561 | -3 | c.-38 others(12): Show |
ART5 | ENSG00000167311.14 | transcript | ENST00000397068.8 | protein_coding | 253 | chr11 | TogoVar | |||||||
ART5_chr11_3633512_3646992 | 3643529 | AAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(25): Show |
a0001a0002a0007 | a0001c0001a0001c0016a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(11): Show |
28 | 452 | 0.0619 | -3 | c.-16 others(14): Show |
ART5 | ENSG00000167311.14 | transcript | ENST00000397068.8 | protein_coding | 1538 | chr11 | TogoVar | |||||||
ARV1_chr1_230974094_231005733 | 230986668 | ATTT | A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00621.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(12): Show |
33 | 177 | 0.1864 | -3 | c.175 others(20): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARVCF_chr22_19964896_20021823 | 19966592 | CACT | C | downstream_gene_variant | MODIFIER | HG03041.hp2 HG03130.hp1 HG03195.hp2 |
a0004 | a0004c0012 | a0004c0012t0006 | a0004c0012t0006g0033 a0004c0012t0006g0120 |
3 | 372 | 0.0081 | -3 | c.*41 others(14): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 3303 | chr22 | TogoVar | |||||||
AR_chrX_67539021_67735619 | 67545316 | TGCA | T | disruptive_inframe_deletion | MODERATE | HG00642.hp1 HG00738.hp1 HG01109.hp1 others(32): Show |
a0001a0016 | a0001c0001a0001c0009a0001c0026others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0079 others(31): Show |
35 | 59 | 0.5932 | -3 | c.237 others(10): Show |
p.Gln others(5): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1363/10667 | 237/2763 | 79/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | TGGC | T | disruptive_inframe_deletion | MODERATE | HG00673.hp1 HG01891.hp2 HG02040.hp1 others(30): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0001c0026others(15): Show | a0001c0001t0004a0001c0001t0014a0001c0001t0019others(25): Show | a0001c0001t0004g0186 a0001c0001t0014g0179 a0001c0001t0019g0175 others(30): Show |
33 | 113 | 0.2920 | -3 | c.141 others(12): Show |
p.Gly others(6): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2544/10667 | 1418/2763 | 473/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67708360 | CTAA | C | intron_variant | MODIFIER | HG02071.hp1 NA18962.hp1 NA18995.hp1 others(3): Show |
a0001a0006a0009others(2): Show | a0001c0001a0006c0003a0009c0015others(2): Show | a0001c0001t0002a0006c0003t0002a0009c0015t0002others(2): Show | a0001c0001t0002g0065 a0006c0003t0002g0009 a0006c0003t0002g0067 others(3): Show |
6 | 191 | 0.0314 | -3 | c.188 others(22): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | chrX | TogoVar | |||||||
AR_chrX_67539021_67735619 | 67730180 | TAAG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0009a0001c0026others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0079 others(146): Show |
150 | 191 | 0.7853 | -3 | c.*63 others(14): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 6344 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102868683 | TGTG | T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00673.hp1 NA18941.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0001 a0001c0001t0003g0084 a0001c0001t0003g0095 others(1): Show |
4 | 360 | 0.0111 | -3 | c.-90 others(12): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 786 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102883101 | TATG | T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01069.hp1 others(69): Show |
a0001 | a0001c0001a0001c0004a0001c0011 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(61): Show |
72 | 284 | 0.2535 | -3 | c.885 others(20): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102888868 | TATA | T | intron_variant | MODIFIER | HG01255.hp2 HG01981.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0014g0090 |
3 | 357 | 0.0084 | -3 | c.886 others(20): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102901109 | AAAG | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01069.hp1 others(65): Show |
a0001 | a0001c0001a0001c0004a0001c0011 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(57): Show |
68 | 360 | 0.1889 | -3 | c.*41 others(12): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 11/11 | 412 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102906277 | ATAT | A | downstream_gene_variant | MODIFIER | HG02896.hp1 HG03453.hp1 NA18939.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0272 a0001c0001t0001g0290 a0001c0001t0001g0298 others(1): Show |
4 | 336 | 0.0119 | -3 | c.*55 others(14): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4379 | chr10 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18062868 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(121): Show |
a0001a0006 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(78): Show |
124 | 258 | 0.4806 | -3 | c.503 others(18): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18069140 | CAAA | C | intron_variant | MODIFIER | HG01256.hp2 HG03225.hp1 HG03491.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0189 others(7): Show |
11 | 244 | 0.0451 | -3 | c.303 others(18): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 4/13 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18085214 | CTTT | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(53): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 others(40): Show |
56 | 418 | 0.1340 | -3 | c.-11 others(14): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 1108 | chr8 | TogoVar | |||||||
ASAH2B_chr10_50734936_50764255 | 50747068 | AAAC | A | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0053a0001c0001t0057others(2): Show | a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0053g0062 others(3): Show |
6 | 412 | 0.0146 | -3 | c.144 others(20): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |