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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2M_chr12_9062708_9120919 | 9108099 | GTTTATTT others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(130): Show |
a0001a0002a0010others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 others(109): Show |
133 | 264 | 0.5038 | -15 | c.759 others(30): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | chr12 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33310306 | AGGGAGAG others(8): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02965.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0089 |
3 | 414 | 0.0072 | -15 | c.335 others(32): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33310345 | GAGACCAG others(8): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0208 | 1 | 416 | 0.0024 | -15 | c.335 others(32): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67196177 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18747.hp1 NA18991.hp2 NA19077.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 others(1): Show |
4 | 378 | 0.0106 | -15 | c.*66 others(26): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4489 | chr15 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36237750 | GTATTATT others(8): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG01109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0008 a0001c0001t0001g0151 a0001c0001t0001g0152 others(5): Show |
13 | 119 | 0.1092 | -15 | c.-49 others(32): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36258834 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 195 | 0.0051 | -15 | c.*30 others(26): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1902 | chr20 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70262967 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0191 | 1 | 77 | 0.0130 | -15 | c.149 others(32): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44305839 | AGGGGAGA others(8): Show |
A | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0096 | 1 | 393 | 0.0025 | -15 | c.130 others(30): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 9/21 | chr6 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42965994 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0150 | 1 | 40 | 0.0250 | -15 | c.-15 others(26): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | |||||||
AASDHPPT_chr11_106072662_106103695 | 106078382 | GATTGAAG others(8): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 402 | 0.0025 | -15 | c.183 others(30): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56374367 | CAGAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0007a0009others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0017 others(85): Show |
100 | 231 | 0.4329 | -15 | c.669 others(32): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 36968266 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG02027.hp1 HG02083.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0001 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0011 others(2): Show |
5 | 167 | 0.0299 | -15 | c.832 others(34): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146044 | TATATACA others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0261 | 1 | 346 | 0.0029 | -15 | c.*27 others(26): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1962 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69146114 | CATGGAAT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp2 NA18522.hp2 NA18906.hp2 |
a0005a0006 | a0005c0005a0006c0016 | a0005c0005t0004a0006c0016t0004 | a0005c0005t0004g0215 a0005c0005t0004g0219 a0006c0016t0004g0188 |
3 | 346 | 0.0087 | -15 | c.*26 others(26): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1892 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69146164 | AATATATA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02818.hp2 HG03130.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0005c0005t0004 | a0001c0001t0002g0043 a0001c0001t0002g0169 a0001c0001t0002g0171 others(2): Show |
5 | 177 | 0.0282 | -15 | c.*26 others(26): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1842 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69146296 | CGGAATAT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0225 a0001c0001t0006g0226 |
2 | 185 | 0.0108 | -15 | c.*25 others(26): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1710 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02622.hp2 others(4): Show |
a0002a0004a0009others(1): Show | a0002c0017a0004c0018a0004c0059others(3): Show | a0002c0017t0009a0004c0018t0021a0004c0059t0004others(3): Show | a0002c0017t0009g0007 a0004c0018t0021g0082 a0004c0059t0004g0071 others(4): Show |
7 | 25 | 0.2800 | -15 | c.178 others(32): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215071196 | CAAATAAA others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01106.hp1 others(27): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0012a0001c0003t0001a0001c0003t0002others(12): Show | a0001c0001t0012g0192 a0001c0003t0001g0031 a0001c0003t0001g0033 others(27): Show |
30 | 67 | 0.4478 | -15 | c.164 others(32): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48172797 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG03195.hp1 HG03540.hp2 others(1): Show |
a0002a0006a0048others(1): Show | a0002c0002a0006c0024a0048c0090others(1): Show | a0002c0002t0004a0006c0024t0003a0048c0090t0005others(1): Show | a0002c0002t0004g0106 a0006c0024t0003g0107 a0048c0090t0005g0104 others(1): Show |
4 | 9 | 0.4444 | -15 | c.69+ others(30): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862691 | GGCCGGGC others(8): Show |
G | intron_variant | MODIFIER | HG03831.hp2 | a0015 | a0015c0061 | a0015c0061t0001 | a0015c0061t0001g0081 | 1 | 251 | 0.0040 | -15 | c.422 others(30): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104896711 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 46 | 0.0217 | -15 | c.66+ others(30): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104908167 | GACACTGG others(8): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02622.hp2 others(10): Show |
a0002a0004a0005others(1): Show | a0002c0017a0002c0024a0002c0025others(8): Show | a0002c0017t0015a0002c0024t0008a0002c0025t0007others(8): Show | a0002c0017t0015g0104 a0002c0024t0008g0004 a0002c0024t0008g0009 others(10): Show |
13 | 316 | 0.0411 | -15 | c.-92 others(32): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94027519 | TCCTTCTT others(8): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 304 | 0.0033 | -15 | c.453 others(34): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94061566 | GAAGCATA others(8): Show |
G | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0081 | a0001c0081t0002 | a0001c0081t0002g0139 | 1 | 304 | 0.0033 | -15 | c.193 others(32): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 13/49 | chr1 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146044 | TATATACA others(8): Show |
T | upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 324 | 0.0031 | -15 | c.-43 others(26): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4150 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146114 | CATGGAAT others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0011 | 1 | 323 | 0.0031 | -15 | c.-44 others(26): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4220 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146164 | AATATATA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02818.hp2 HG03130.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0225 a0002c0002t0002g0241 a0002c0002t0002g0242 others(1): Show |
4 | 172 | 0.0233 | -15 | c.-44 others(26): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4270 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146296 | CGGAATAT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp1 NA19030.hp1 |
a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0255 a0006c0010t0001g0257 |
2 | 179 | 0.0112 | -15 | c.-46 others(26): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4402 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1050782 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG02071.hp1 HG02145.hp2 others(6): Show |
a0004a0005a0006others(5): Show | a0004c0005a0005c0017a0006c0019others(5): Show | a0004c0005t0002a0005c0017t0001a0006c0019t0002others(5): Show | a0004c0005t0002g0002 a0004c0005t0002g0003 a0005c0017t0001g0027 others(6): Show |
9 | 12 | 0.7500 | -15 | c.255 others(32): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68887897 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0237 | 1 | 272 | 0.0037 | -15 | c.314 others(32): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68922194 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG02717.hp2 HG02922.hp1 others(2): Show |
a0001a0002a0032 | a0001c0001a0001c0005a0002c0022others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0022t0001others(1): Show | a0001c0001t0001g0210 a0001c0005t0001g0138 a0001c0005t0001g0139 others(2): Show |
5 | 45 | 0.1111 | -15 | c.150 others(30): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229535038 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0053 | 1 | 90 | 0.0111 | -15 | c.134 others(34): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169007239 | TAATCAAT others(8): Show |
T | intron_variant | MODIFIER | HG00558.hp1 NA18747.hp2 NA18942.hp1 others(7): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0029others(3): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0002c0003t0001g0002 others(6): Show |
10 | 304 | 0.0329 | -15 | c.389 others(32): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87583710 | AGTTTACT others(8): Show |
A | intron_variant | MODIFIER | HG00423.hp2 NA18948.hp1 NA18952.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0003a0001c0004t0002a0001c0004t0005others(1): Show | a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0004t0002g0048 others(12): Show |
15 | 350 | 0.0429 | -15 | c.286 others(32): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 4/27 | chr7 | TogoVar | |||||||
ABCB4_chr7_87396696_87480680 | 87472921 | GAAAGATA others(8): Show |
G | intron_variant | MODIFIER | NA18948.hp1 NA19009.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 a0001c0002t0001g0098 |
2 | 288 | 0.0069 | -15 | c.81- others(28): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 2/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20624872 | CCTTTGCC others(8): Show |
C | intron_variant | MODIFIER | NA18946.hp1 NA18955.hp2 NA18974.hp2 others(5): Show |
a0002a0003 | a0002c0003a0003c0002a0003c0010 | a0002c0003t0001a0003c0002t0001a0003c0010t0001others(1): Show | a0002c0003t0001g0347 a0003c0002t0001g0148 a0003c0002t0001g0150 others(5): Show |
8 | 358 | 0.0223 | -15 | c.53+ others(30): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20681100 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01255.hp2 others(10): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0005a0002c0035others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0290 a0001c0001t0002g0273 others(9): Show |
13 | 358 | 0.0363 | -15 | c.170 others(32): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | chr7 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16044264 | GGTGGCTC others(8): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG02717.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0033 | a0001c0001t0001a0001c0001t0004a0001c0033t0015 | a0001c0001t0001g0084 a0001c0001t0004g0118 a0001c0033t0015g0098 |
3 | 246 | 0.0122 | -15 | c.810 others(30): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16053774 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03834.hp2 NA18971.hp1 |
a0001 | a0001c0003a0001c0013 | a0001c0003t0001a0001c0013t0002 | a0001c0003t0001g0187 a0001c0013t0002g0190 |
2 | 34 | 0.0588 | -15 | c.147 others(32): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673980 | CTCTCTCT others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG02280.hp1 HG03017.hp2 others(1): Show |
a0001a0005 | a0001c0003a0001c0022a0005c0008 | a0001c0003t0001a0001c0022t0001a0005c0008t0001 | a0001c0003t0001g0206 a0001c0003t0001g0320 a0001c0022t0001g0123 others(1): Show |
4 | 251 | 0.0159 | -15 | c.259 others(32): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | |||||||
ABCC3_chr17_50629881_50697253 | 50673988 | CTCTCTCT others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0006 | 1 | 281 | 0.0036 | -15 | c.259 others(32): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95058583 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02055.hp2 others(6): Show |
a0001a0002 | a0001c0010a0001c0013a0001c0024others(2): Show | a0001c0010t0001a0001c0013t0001a0001c0013t0004others(5): Show | a0001c0010t0001g0152 a0001c0013t0001g0038 a0001c0013t0004g0012 others(6): Show |
9 | 246 | 0.0366 | -15 | c.336 others(34): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95109002 | CTATACTA others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0038 | 1 | 246 | 0.0041 | -15 | c.253 others(34): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 20/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95226140 | CAATTACT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(168): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(81): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 others(168): Show |
171 | 246 | 0.6951 | -15 | c.531 others(32): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95301592 | TGACGCGG others(8): Show |
T | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0047 | a0001c0047t0006 | a0001c0047t0006g0120 | 1 | 246 | 0.0041 | -15 | c.-29 others(24): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 142 | chr13 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16219059 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0027 | a0027c0073 | a0027c0073t0001 | a0027c0073t0001g0016 | 1 | 224 | 0.0045 | -15 | c.474 others(30): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21816036 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp1 HG01516.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0007 | a0001c0001t0001a0001c0010t0001a0002c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(26): Show |
30 | 32 | 0.9375 | -15 | c.389 others(32): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 33/39 | chr12 | TogoVar | |||||||
ABCD2_chr12_39545033_39624803 | 39622979 | AAGGATTC others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 2 | 338 | 0.0059 | -15 | c.-33 others(26): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 3177 | chr12 | TogoVar | |||||||
ABCD3_chr1_94413389_94523663 | 94477227 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18947.hp2 NA18985.hp1 NA18997.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0001g0078 others(7): Show |
10 | 60 | 0.1667 | -15 | c.628 others(32): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCE1_chr4_145093311_145134524 | 145098735 | AAACCTGC others(8): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0033 others(1): Show |
8 | 258 | 0.0310 | -15 | c.-28 others(30): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |