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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARMH3_chr10_101840599_102061173 | 102030709 | CAAAAATA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG02040.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 others(13): Show |
16 | 260 | 0.0615 | -9 | c.307 others(24): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 4/25 | chr10 | TogoVar | |||||||
ARMH3_chr10_101840599_102061173 | 102053214 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | NA18945.hp2 NA18971.hp1 NA18982.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0102 others(6): Show |
9 | 217 | 0.0415 | -9 | c.-12 others(26): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
ARMT1_chr6_151447466_151475101 | 151450755 | AGAAAGGG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00544.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0040 others(5): Show |
37 | 416 | 0.0889 | -9 | c.-17 others(20): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 1710 | chr6 | TogoVar | |||||||
ARNT2_chr15_80399382_80602933 | 80543094 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp1 HG02486.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0001g0025 a0001c0001t0006g0079 a0001c0001t0006g0161 others(6): Show |
9 | 126 | 0.0714 | -9 | c.878 others(26): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARNT2_chr15_80399382_80602933 | 80548141 | TCTTCATA others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(2): Show | a0001c0001t0001g0005 a0001c0001t0005g0121 a0001c0001t0013g0264 others(2): Show |
5 | 266 | 0.0188 | -9 | c.878 others(26): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARPC1A_chr7_99320898_99371262 | 99336481 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG01516.hp1 HG02083.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0267 a0001c0001t0001g0268 others(29): Show |
34 | 139 | 0.2446 | -9 | c.65- others(24): Show |
ARPC1A | ENSG00000241685.10 | transcript | ENST00000262942.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ARPP19_chr15_52542045_52574030 | 52552583 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0020a0001c0001t0061 | a0001c0001t0005g0014 a0001c0001t0005g0022 a0001c0001t0005g0029 others(17): Show |
26 | 145 | 0.1793 | -9 | c.169 others(24): Show |
ARPP19 | ENSG00000128989.11 | transcript | ENST00000249822.9 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
ARPP21_chr3_35634525_35799486 | 35667839 | TCAAAGAA others(2): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp1 HG01993.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0002a0001c0006t0001 | a0001c0001t0001g0216 a0001c0002t0002g0191 a0001c0002t0002g0208 others(2): Show |
5 | 210 | 0.0238 | -9 | c.-21 others(30): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
ARPP21_chr3_35634525_35799486 | 35667905 | AAGAGGAA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0201 a0001c0001t0001g0202 others(10): Show |
13 | 264 | 0.0492 | -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 | 35667948 | AAAGAAGA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00558.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0016 others(29): Show |
33 | 97 | 0.3402 | -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 | 35728152 | TTAATAAT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02080.hp2 others(21): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0061 a0001c0001t0001g0210 a0001c0001t0001g0254 others(21): Show |
24 | 102 | 0.2353 | -9 | c.122 others(28): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ARRB1_chr11_75255122_75356661 | 75353788 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp2 HG03540.hp2 NA18946.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0253 a0001c0001t0003g0248 a0001c0001t0005g0282 others(2): Show |
5 | 316 | 0.0158 | -9 | c.-21 others(20): Show |
ARRB1 | ENSG00000137486.17 | transcript | ENST00000420843.7 | protein_coding | 2128 | chr11 | TogoVar | |||||||
ARRB1_chr11_75255122_75356661 | 75353790 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02683.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0027a0001c0001t0040others(1): Show | a0001c0001t0001g0251 a0001c0001t0001g0281 a0001c0001t0027g0234 others(2): Show |
5 | 310 | 0.0161 | -9 | c.-21 others(20): Show |
ARRB1 | ENSG00000137486.17 | transcript | ENST00000420843.7 | protein_coding | 2130 | chr11 | TogoVar | |||||||
ARRDC2_chr19_18003170_18019102 | 18007004 | ATCACGGG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(94): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0001c0001t0001g0002 a0002c0002t0002g0004 a0002c0002t0002g0006 others(24): Show |
97 | 412 | 0.2354 | -9 | c.-13 others(20): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 1165 | chr19 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78841132 | GTACTACT others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00733.hp2 HG01106.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006a0002c0002t0007others(5): Show | a0002c0002t0002g0295 a0002c0002t0002g0312 a0002c0002t0006g0150 others(7): Show |
10 | 284 | 0.0352 | -9 | c.114 others(28): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78905910 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(94): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0189 a0001c0001t0001g0226 a0001c0001t0001g0276 others(94): Show |
97 | 205 | 0.4732 | -9 | c.899 others(28): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78911572 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0002a0001c0001t0008a0001c0003t0006others(30): Show | a0001c0001t0002g0038 a0001c0001t0008g0222 a0001c0003t0006g0270 others(44): Show |
48 | 85 | 0.5647 | -9 | c.899 others(28): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78928305 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp2 HG01891.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0006a0001c0003t0007others(4): Show | a0001c0003t0002g0349 a0001c0003t0002g0351 a0001c0003t0006g0247 others(6): Show |
9 | 29 | 0.3103 | -9 | c.898 others(28): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78942384 | ATTGTAGA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(209): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 others(208): Show |
212 | 358 | 0.5922 | -9 | c.898 others(28): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78968315 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02027.hp1 HG02735.hp2 others(1): Show |
a0001a0002a0003 | a0001c0007a0002c0002a0003c0014 | a0001c0007t0077a0002c0002t0003a0002c0002t0025others(1): Show | a0001c0007t0077g0069 a0002c0002t0003g0336 a0002c0002t0025g0159 others(1): Show |
4 | 87 | 0.0460 | -9 | c.499 others(24): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036771 | ATTATATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02071.hp1 HG02647.hp1 HG02698.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0065 others(9): Show |
12 | 186 | 0.0645 | -9 | c.-49 others(20): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4699 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036779 | TTTTATAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01070.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0059 a0001c0001t0001g0079 others(5): Show |
9 | 181 | 0.0497 | -9 | c.-49 others(20): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4691 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3045869 | TTTTTGTT others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0003 | a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 others(3): Show |
6 | 191 | 0.0314 | -9 | c.-29 others(26): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68333631 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00642.hp1 others(60): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(18): Show | a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0048 others(60): Show |
63 | 97 | 0.6495 | -9 | c.219 others(26): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68374344 | CCAGAAGG others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(131): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(34): Show | a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0159 others(131): Show |
134 | 302 | 0.4437 | -9 | c.982 others(26): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3020274 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01169.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0006 | a0001c0001t0001a0002c0004t0002a0002c0006t0002 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0002c0004t0002g0194 others(2): Show |
5 | 58 | 0.0862 | -9 | c.901 others(26): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036771 | ATTATATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02647.hp1 HG02698.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0054 others(6): Show |
10 | 241 | 0.0415 | -9 | c.*33 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2661 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036779 | TTTTATAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00639.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0026 others(8): Show |
11 | 237 | 0.0464 | -9 | c.*33 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2669 | chrX | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2946322 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(68): Show |
77 | 257 | 0.2996 | -9 | c.855 others(24): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 6/10 | chrX | TogoVar | |||||||
ARV1_chr1_230974094_231005733 | 230986668 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0100 others(1): Show |
8 | 152 | 0.0526 | -9 | c.175 others(26): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARVCF_chr22_19964896_20021823 | 19986766 | CGTCCATC others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG02965.hp1 others(1): Show |
a0007 | a0007c0010 | a0007c0010t0010 | a0007c0010t0010g0035 a0007c0010t0010g0142 a0007c0010t0010g0143 |
4 | 372 | 0.0108 | -9 | c.210 others(26): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 3/19 | chr22 | TogoVar | |||||||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCAG others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01081.hp2 HG01255.hp1 others(10): Show |
a0007 | a0007c0008a0007c0016a0007c0025 | a0007c0008t0005a0007c0008t0006a0007c0008t0018others(7): Show | a0007c0008t0005g0142 a0007c0008t0005g0160 a0007c0008t0006g0136 others(10): Show |
13 | 37 | 0.3514 | -9 | c.231 others(16): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1357/10667 | 231/2763 | 77/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | TGGCGGCG others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG01243.hp1 HG02451.hp1 HG02486.hp1 others(5): Show |
a0002a0004a0007others(2): Show | a0002c0010a0004c0004a0007c0008others(3): Show | a0002c0010t0035a0002c0010t0036a0004c0004t0001others(5): Show | a0002c0010t0035g0151 a0002c0010t0036g0119 a0004c0004t0001g0042 others(5): Show |
8 | 88 | 0.0909 | -9 | c.141 others(18): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2538/10667 | 1412/2763 | 471/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AS3MT_chr10_102864470_102906899 | 102871546 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG02647.hp2 NA18941.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0003g0011 others(5): Show |
8 | 36 | 0.2222 | -9 | c.171 others(24): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01934.hp1 HG01943.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0016others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0206 a0001c0001t0001g0228 others(11): Show |
14 | 203 | 0.0690 | -9 | c.886 others(26): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130071000 | AGGGGAGG others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02615.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0008a0001c0001t0012others(1): Show | a0001c0001t0002g0057 a0001c0001t0008g0009 a0001c0001t0012g0295 others(1): Show |
4 | 283 | 0.0141 | -9 | c.270 others(28): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130097126 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(50): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(4): Show | a0002c0002t0001g0061 a0002c0002t0003g0055 a0002c0002t0003g0082 others(50): Show |
53 | 83 | 0.6386 | -9 | c.240 others(28): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130262415 | AAAGAGAG others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01192.hp2 HG01255.hp2 others(15): Show |
a0001 | a0001c0001a0001c0008a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0163 a0001c0001t0001g0167 others(15): Show |
18 | 277 | 0.0650 | -9 | c.187 others(28): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130283583 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG01243.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(4): Show | a0001c0001t0001g0051 a0001c0001t0001g0167 a0001c0001t0001g0228 others(10): Show |
13 | 59 | 0.2203 | -9 | c.187 others(28): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130376903 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0005a0001c0005t0007a0001c0006t0005 | a0001c0005t0005g0285 a0001c0005t0007g0002 a0001c0005t0007g0003 others(3): Show |
6 | 162 | 0.0370 | -9 | c.60- others(26): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9395594 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0003a0001c0006a0001c0007 | a0001c0003t0001a0001c0006t0004a0001c0007t0004 | a0001c0003t0001g0165 a0001c0006t0004g0013 a0001c0006t0004g0018 others(7): Show |
10 | 64 | 0.1563 | -9 | c.268 others(28): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASB13_chr10_5633867_5671595 | 5662628 | GAAGAGAA others(2): Show |
G | intron_variant | MODIFIER | HG02083.hp1 HG02132.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0006g0303 others(1): Show |
4 | 444 | 0.0090 | -9 | c.43+ others(24): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236268195 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(93): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0001others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0001g0060 others(91): Show |
96 | 126 | 0.7619 | -9 | c.-38 others(20): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3790 | chr2 | TogoVar | |||||||
ASB3_chr2_53664980_53791953 | 53695651 | ATAATGCC others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01261.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0140 others(22): Show |
25 | 348 | 0.0718 | -9 | c.123 others(28): Show |
ASB3 | ENSG00000115239.24 | transcript | ENST00000263634.8 | protein_coding | 8/9 | chr2 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218166 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp2 HG03130.hp2 NA18973.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004a0002c0002t0007 | a0001c0001t0001g0109 a0002c0002t0004g0205 a0002c0002t0007g0202 |
3 | 185 | 0.0162 | -9 | c.-20 others(20): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1891 | chr10 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100568752 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03209.hp1 HG03225.hp1 others(3): Show |
a0001a0014 | a0001c0001a0014c0016 | a0001c0001t0001a0001c0001t0002a0014c0016t0002 | a0001c0001t0001g0208 a0001c0001t0001g0265 a0001c0001t0001g0266 others(3): Show |
6 | 96 | 0.0625 | -9 | c.555 others(30): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 36/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608216 | ATATATAC others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(97): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0019a0001c0020others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0002t0001g0290 a0001c0002t0002g0082 a0001c0002t0002g0083 others(97): Show |
100 | 312 | 0.3205 | -9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608595 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 others(3): Show |
6 | 312 | 0.0192 | -9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608631 | TTTATATA others(2): Show |
T | intron_variant | MODIFIER | HG02132.hp1 NA18945.hp1 NA18955.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0174 a0003c0004t0004g0178 a0003c0004t0004g0195 others(1): Show |
4 | 311 | 0.0129 | -9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608659 | TTTATATA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG02071.hp2 NA18747.hp2 others(5): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0002a0003c0004t0004 | a0002c0003t0002g0010 a0002c0003t0002g0016 a0003c0004t0004g0173 others(5): Show |
8 | 308 | 0.0260 | -9 | c.478 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar |