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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABRA_chr8_106754483_106775244 | 106758499 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG01071.hp1 HG03139.hp2 NA18941.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0030 a0001c0003t0001g0002 |
8 | 41 | 0.1951 | -5 | c.*25 others(16): Show |
ABRA | ENSG00000174429.4 | transcript | ENST00000311955.4 | protein_coding | 983 | chr8 | TogoVar | |||||||
ABRA_chr8_106754483_106775244 | 106760550 | TATCTC | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00741.hp1 others(42): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0004 a0001c0002t0003g0075 a0001c0002t0003g0078 others(4): Show |
45 | 438 | 0.1027 | -5 | c.*48 others(14): Show |
ABRA | ENSG00000174429.4 | transcript | ENST00000311955.4 | protein_coding | 2/2 | 482 | chr8 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1017464 | CTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0029a0001c0001t0043a0001c0003t0012others(3): Show | a0001c0001t0029g0115 a0001c0001t0029g0178 a0001c0001t0043g0007 others(4): Show |
7 | 124 | 0.0565 | -5 | c.179 others(24): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1034645 | TTACTC | T | intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0018a0001c0003t0012a0001c0013t0018 | a0001c0001t0018g0110 a0001c0003t0012g0118 a0001c0013t0018g0107 |
3 | 336 | 0.0089 | -5 | c.179 others(26): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065742 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(54): Show |
a0001a0004a0005 | a0001c0001a0004c0011a0005c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0063 others(54): Show |
57 | 91 | 0.6264 | -5 | c.118 others(24): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1079788 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00733.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0072 others(6): Show |
9 | 15 | 0.6000 | -5 | c.640 others(20): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34288752 | ACTCCT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(162): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(29): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(162): Show |
165 | 244 | 0.6762 | -5 | c.883 others(24): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34306236 | ATTTTT | A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0015a0001c0001t0016others(1): Show | a0001c0001t0001g0092 a0001c0001t0001g0137 a0001c0001t0015g0157 others(2): Show |
5 | 66 | 0.0758 | -5 | c.883 others(24): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34325950 | AAAAAT | A | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp2 others(47): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(47): Show |
50 | 125 | 0.4000 | -5 | c.883 others(24): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107318305 | TAAAAA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(22): Show |
a0002a0005a0007others(1): Show | a0002c0002a0002c0015a0005c0007others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(8): Show | a0002c0002t0001g0045 a0002c0002t0001g0109 a0002c0002t0001g0117 others(22): Show |
25 | 48 | 0.5208 | -5 | c.-63 others(14): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 128 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107482904 | CTCTTT | C | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0015a0001c0001t0033others(1): Show | a0001c0001t0002g0152 a0001c0001t0015g0156 a0001c0001t0033g0077 others(1): Show |
4 | 184 | 0.0217 | -5 | c.113 others(26): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107482916 | CTTTCT | C | intron_variant | MODIFIER | HG01081.hp1 HG02486.hp2 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0002a0001c0012t0027 | a0001c0003t0002g0095 a0001c0012t0027g0023 |
2 | 186 | 0.0108 | -5 | c.113 others(26): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107635850 | ACCCCC | A | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG02257.hp1 others(10): Show |
a0001a0003a0006 | a0001c0012a0003c0008a0003c0021others(2): Show | a0001c0012t0001a0001c0012t0004a0001c0012t0027others(6): Show | a0001c0012t0001g0062 a0001c0012t0004g0039 a0001c0012t0027g0023 others(10): Show |
13 | 63 | 0.2063 | -5 | c.273 others(22): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107643401 | TCAAAA | T | intron_variant | MODIFIER | HG01175.hp2 HG02738.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0005 | a0001c0001t0001g0016 a0003c0006t0005g0144 |
2 | 161 | 0.0124 | -5 | c.292 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | chr12 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37185402 | CTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0005a0001c0004t0030others(1): Show | a0001c0001t0003g0116 a0001c0004t0005g0044 a0001c0004t0005g0125 others(3): Show |
6 | 135 | 0.0444 | -5 | c.477 others(24): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 39/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37217760 | AAAAAC | A | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0020 | a0001c0004t0005g0088 a0001c0004t0005g0090 a0001c0004t0005g0137 others(4): Show |
7 | 298 | 0.0235 | -5 | c.368 others(24): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37219724 | TTATAA | T | intron_variant | MODIFIER | HG02109.hp2 NA18945.hp2 NA18946.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0005 | a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0143 others(1): Show |
4 | 298 | 0.0134 | -5 | c.368 others(24): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37260285 | TATATA | T | intron_variant | MODIFIER | HG00609.hp1 HG01169.hp1 HG01952.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0062 a0001c0003t0001g0130 a0001c0003t0001g0219 others(2): Show |
5 | 293 | 0.0171 | -5 | c.133 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 11/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37260289 | TATATA | T | intron_variant | MODIFIER | NA18972.hp2 NA18990.hp1 NA19065.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0002g0015 |
3 | 296 | 0.0101 | -5 | c.133 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 11/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37273083 | CAAAAT | C | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009 | a0001c0001t0002g0021 a0001c0001t0007g0093 a0001c0001t0007g0140 others(3): Show |
6 | 298 | 0.0201 | -5 | c.100 others(24): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 9/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37333343 | AGAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(55): Show |
a0001a0002 | a0001c0003a0001c0012a0002c0013 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(7): Show | a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0059 others(55): Show |
58 | 298 | 0.1946 | -5 | c.86- others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 2/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37337439 | TAAAGA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(51): Show |
a0001a0002 | a0001c0003a0001c0012a0002c0013 | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(6): Show | a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0059 others(51): Show |
54 | 297 | 0.1818 | -5 | c.85+ others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 2/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37338097 | AAAAAT | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008 | a0001c0001t0001g0187 a0001c0002t0001g0133 a0001c0002t0001g0269 others(3): Show |
6 | 251 | 0.0239 | -5 | c.85+ others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 2/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37342406 | CAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0002g0007 others(3): Show |
6 | 166 | 0.0361 | -5 | c.39- others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37360683 | ATAAGT | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(36): Show |
a0001a0005 | a0001c0002a0001c0010a0001c0015others(1): Show | a0001c0002t0001a0001c0002t0024a0001c0010t0001others(2): Show | a0001c0002t0001g0050 a0001c0002t0001g0080 a0001c0002t0001g0085 others(36): Show |
39 | 298 | 0.1309 | -5 | c.39- others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390248 | ATATAT | A | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG02976.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0099 a0001c0001t0003g0098 a0001c0002t0001g0049 others(8): Show |
11 | 298 | 0.0369 | -5 | c.38+ others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109150982 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00609.hp2 others(57): Show |
a0001a0002a0003others(10): Show | a0001c0013a0001c0045a0001c0069others(19): Show | a0001c0013t0001a0001c0045t0002a0001c0069t0002others(25): Show | a0001c0013t0001g0136 a0001c0045t0002g0142 a0001c0069t0002g0204 others(57): Show |
60 | 217 | 0.2765 | -5 | c.653 others(24): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109238427 | ATATAT | A | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02818.hp1 others(2): Show |
a0002a0008 | a0002c0006a0008c0015a0008c0044 | a0002c0006t0005a0008c0015t0005a0008c0044t0025 | a0002c0006t0005g0292 a0008c0015t0005g0167 a0008c0015t0005g0168 others(2): Show |
5 | 306 | 0.0163 | -5 | c.466 others(24): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 34/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111719120 | CAAAAA | C | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp2 HG02717.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 others(5): Show |
8 | 334 | 0.0240 | -5 | c.993 others(22): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132643189 | AGTCTC | A | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0291 a0001c0001t0001g0292 others(13): Show |
19 | 314 | 0.0605 | -5 | c.250 others(20): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 2/19 | chr3 | TogoVar | |||||||
ACAD8_chr11_134248568_134270855 | 134264519 | AAAAGT | A | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02280.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0054 |
16 | 448 | 0.0357 | -5 | c.119 others(22): Show |
ACAD8 | ENSG00000151498.12 | transcript | ENST00000281182.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACAD9_chr3_128874620_128918114 | 128889143 | TTTTTG | T | intron_variant | MODIFIER | HG00642.hp1 HG01891.hp2 HG02965.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0002g0186 |
3 | 370 | 0.0081 | -5 | c.245 others(22): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210218200 | CTTAAT | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00733.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(21): Show |
30 | 272 | 0.1103 | -5 | c.234 others(19): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACADM_chr1_75719709_75768679 | 75731278 | CAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0008 | a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0100 others(8): Show |
11 | 103 | 0.1068 | -5 | c.119 others(22): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75760430 | AAAAAG | A | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02145.hp2 others(12): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 others(12): Show |
15 | 362 | 0.0414 | -5 | c.946 others(20): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123016061 | GTAATT | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0045 | a0001c0001t0004g0007 a0001c0001t0004g0011 a0001c0001t0004g0026 others(18): Show |
28 | 372 | 0.0753 | -5 | c.42+ others(20): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123040183 | TAAAAA | T | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01109.hp2 others(29): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0006a0001c0009others(3): Show | a0001c0001t0005a0001c0001t0015a0001c0006t0005others(4): Show | a0001c0001t0005g0010 a0001c0001t0005g0025 a0001c0001t0005g0047 others(23): Show |
32 | 96 | 0.3333 | -5 | c.304 others(20): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123045158 | TATATA | T | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02976.hp2 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0013 | a0001c0002t0008g0059 a0001c0002t0013g0022 |
3 | 353 | 0.0085 | -5 | c.900 others(20): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ACADSB_chr10_123004006_123063290 | 123045167 | ATATAT | A | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01358.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0050 a0001c0001t0001g0056 others(2): Show |
8 | 262 | 0.0305 | -5 | c.900 others(20): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACADS_chr12_120720826_120745008 | 120735898 | CAAAAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(119): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0011a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0037 others(81): Show |
122 | 362 | 0.3370 | -5 | c.211 others(22): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88842506 | GCCCAT | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02055.hp2 others(10): Show |
a0008a0016a0026others(5): Show | a0008c0008a0016c0108a0026c0058others(9): Show | a0008c0008t0001a0016c0108t0001a0026c0058t0001others(9): Show | a0008c0008t0001g0088 a0008c0008t0001g0111 a0016c0108t0001g0269 others(10): Show |
13 | 233 | 0.0558 | -5 | c.757 others(20): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195294607 | AATTAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(64): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0146 a0001c0001t0002g0152 a0001c0001t0002g0153 others(64): Show |
67 | 303 | 0.2211 | -5 | c.176 others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195302192 | TACTTG | T | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0026 | a0001c0003t0013g0206 a0001c0003t0013g0208 a0001c0003t0013g0209 others(1): Show |
4 | 322 | 0.0124 | -5 | c.111 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 13/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195304163 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(89): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0146 a0001c0001t0001g0212 a0001c0001t0001g0216 others(89): Show |
92 | 119 | 0.7731 | -5 | c.111 others(24): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 13/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195309545 | CAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(35): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(2): Show | a0001c0002t0001g0043 a0001c0002t0004g0004 a0001c0002t0004g0024 others(35): Show |
38 | 316 | 0.1203 | -5 | c.858 others(20): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 10/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195335892 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(91): Show |
94 | 223 | 0.4215 | -5 | c.573 others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 7/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195402853 | CCTTTT | C | intron_variant | MODIFIER | HG02572.hp1 HG03041.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0033g0261 |
3 | 322 | 0.0093 | -5 | c.54- others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195419119 | ACAATT | A | intron_variant | MODIFIER | HG01884.hp2 HG03098.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0284 a0001c0001t0002g0285 a0001c0001t0002g0295 |
3 | 322 | 0.0093 | -5 | c.53+ others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195424283 | ATTTTT | A | intron_variant | MODIFIER | HG01069.hp1 HG01123.hp2 HG01169.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0266 others(25): Show |
28 | 103 | 0.2718 | -5 | c.53+ others(22): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1307032 | CGAGCT | C | intron_variant | MODIFIER | HG02109.hp2 HG02970.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 3 | 294 | 0.0102 | -5 | c.47+ others(18): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 1/23 | chr1 | TogoVar |