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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC8_chr11_17387885_17481845 | 17469056 | T | TCCCTCCC others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02257.hp1 others(10): Show |
a0001a0008 | a0001c0015a0001c0025a0001c0073others(1): Show | a0001c0015t0001a0001c0025t0001a0001c0073t0001others(1): Show | a0001c0015t0001g0018 a0001c0015t0001g0019 a0001c0015t0001g0020 others(10): Show |
13 | 14 | 0.9286 | 9 | c.412 others(26): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3/38 | chr11 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21822632 | T | TACTAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG01255.hp2 others(63): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(62): Show |
66 | 210 | 0.3143 | 9 | c.367 others(28): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | |||||||
ABCD2_chr12_39545033_39624803 | 39546913 | G | GGAAGGAT others(2): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015 | a0001c0001t0009g0037 a0001c0001t0009g0042 a0001c0001t0009g0043 others(2): Show |
5 | 338 | 0.0148 | 9 | c.*69 others(20): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 3119 | chr12 | TogoVar | |||||||
ABCF3_chr3_184181199_184199005 | 184191739 | G | GTTCCTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01109.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0023 others(2): Show |
15 | 335 | 0.0448 | 9 | c.156 others(26): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88125607 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01952.hp1 HG02083.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0034 a0002c0002t0001g0040 a0002c0002t0001g0242 others(10): Show |
13 | 68 | 0.1912 | 9 | c.532 others(26): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 5/15 | chr4 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43833363 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01175.hp2 others(8): Show |
a0001a0006a0007 | a0001c0001a0006c0005a0007c0007 | a0001c0001t0001a0006c0005t0002a0006c0005t0008others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(7): Show |
11 | 94 | 0.1170 | 9 | c.266 others(26): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02109.hp2 HG02896.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0048a0001c0008t0015others(5): Show | a0001c0001t0001g0094 a0001c0001t0048g0086 a0001c0008t0015g0076 others(6): Show |
9 | 126 | 0.0714 | 9 | c.*92 others(20): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50887211 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(217): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(201): Show |
220 | 222 | 0.9910 | 9 | c.700 others(24): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25387589 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(81): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0004g0225 a0001c0001t0004g0286 a0001c0002t0002g0143 others(80): Show |
84 | 220 | 0.3818 | 9 | c.191 others(26): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25390742 | G | GGCCTCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(166): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(11): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0229 others(163): Show |
169 | 314 | 0.5382 | 9 | c.-40 others(16): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/13 | 40 | chr20 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31694387 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01978.hp1 HG01978.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0147 a0001c0001t0002g0015 a0001c0001t0002g0056 others(1): Show |
8 | 49 | 0.1633 | 9 | c.430 others(24): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 5/19 | chr6 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80695065 | T | TGGCGGCG others(2): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 NA18994.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0219 a0001c0001t0001g0220 |
3 | 207 | 0.0145 | 9 | c.-36 others(18): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 244 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80713354 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02647.hp2 HG02723.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0124 a0001c0001t0001g0241 a0001c0001t0002g0031 others(8): Show |
11 | 54 | 0.2037 | 9 | c.590 others(28): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89135143 | C | CTTTTCTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02071.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0072 a0001c0001t0003g0144 a0001c0001t0008g0231 others(2): Show |
5 | 182 | 0.0275 | 9 | c.195 others(28): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183382 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0133 a0001c0001t0002g0003 |
2 | 170 | 0.0118 | 9 | c.723 others(26): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | chr15 | TogoVar | |||||||
ABHD5_chr3_43685938_43727725 | 43709512 | A | AGAGCAGA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(74): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(15): Show | a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0012 others(51): Show |
77 | 284 | 0.2711 | 9 | c.507 others(26): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26818631 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG02015.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 others(30): Show |
34 | 222 | 0.1532 | 9 | c.285 others(26): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203386430 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01168.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0150 a0001c0001t0006g0162 a0001c0001t0006g0163 others(4): Show |
7 | 137 | 0.0511 | 9 | c.480 others(26): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203392275 | T | TCACCACC others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01255.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0182 a0001c0001t0001g0247 a0001c0001t0001g0258 others(43): Show |
46 | 85 | 0.5412 | 9 | c.578 others(26): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100855935 | G | GCCTGCAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02809.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0010a0001c0001t0024a0001c0004t0010others(2): Show | a0001c0001t0010g0002 a0001c0001t0024g0160 a0001c0004t0010g0012 others(2): Show |
5 | 236 | 0.0212 | 9 | c.128 others(28): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 14/67 | chr3 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114448604 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01192.hp1 others(16): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0016a0001c0001t0083a0001c0002t0016others(13): Show | a0001c0001t0016g0241 a0001c0001t0083g0017 a0001c0002t0016g0085 others(16): Show |
19 | 193 | 0.0984 | 9 | c.159 others(26): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 14/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114476646 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0013a0001c0001t0024others(16): Show | a0001c0001t0005g0036 a0001c0001t0013g0179 a0001c0001t0024g0182 others(19): Show |
22 | 40 | 0.5500 | 9 | c.104 others(28): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 8/22 | chr10 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8047358 | T | TTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02451.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015a0001c0001t0016others(1): Show | a0001c0001t0010g0215 a0001c0001t0015g0169 a0001c0001t0016g0233 others(1): Show |
4 | 143 | 0.0280 | 9 | c.823 others(26): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8056112 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01099.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0002g0133 others(21): Show |
24 | 41 | 0.5854 | 9 | c.764 others(26): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 7/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8091665 | T | TATAATTA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01243.hp2 HG01943.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0159 others(15): Show |
18 | 306 | 0.0588 | 9 | c.339 others(26): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8139254 | A | AGGGGAGG others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01433.hp1 HG02257.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0045 a0001c0001t0001g0225 a0001c0001t0002g0011 others(12): Show |
15 | 319 | 0.0470 | 9 | c.10+ others(26): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149260683 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 HG02135.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0255 a0001c0001t0003g0108 others(4): Show |
7 | 18 | 0.3889 | 9 | c.*22 others(20): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 142 | chr5 | TogoVar | |||||||
ABRACL_chr6_139023745_139048302 | 139041531 | A | ATATTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(27): Show |
60 | 79 | 0.7595 | 9 | c.62- others(24): Show |
ABRACL | ENSG00000146386.8 | transcript | ENST00000367660.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABRACL_chr6_139023745_139048302 | 139041531 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(22): Show |
59 | 78 | 0.7564 | 9 | c.62- others(24): Show |
ABRACL | ENSG00000146386.8 | transcript | ENST00000367660.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABRAXAS1_chr4_83454517_83490100 | 83465299 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01070.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0010a0002c0002t0011 | a0002c0002t0001g0014 a0002c0002t0001g0026 a0002c0002t0001g0035 others(9): Show |
18 | 83 | 0.2169 | 9 | c.682 others(26): Show |
ABRAXAS1 | ENSG00000163322.14 | transcript | ENST00000321945.12 | protein_coding | 7/8 | chr4 | TogoVar | |||||||
ABRAXAS2_chr10_124796819_124841667 | 124827163 | T | TTATAGTG others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 others(9): Show |
20 | 348 | 0.0575 | 9 | c.458 others(24): Show |
ABRAXAS2 | ENSG00000165660.8 | transcript | ENST00000298492.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1000066 | A | ATTTTTTA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00639.hp2 others(39): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0062 others(39): Show |
42 | 93 | 0.4516 | 9 | c.*60 others(20): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 3452 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1000066 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00642.hp1 others(51): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(9): Show | a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0067 others(51): Show |
54 | 105 | 0.5143 | 9 | c.*60 others(20): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 3452 | chr17 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34232449 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01074.hp2 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0031 others(28): Show |
31 | 209 | 0.1483 | 9 | c.884 others(28): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34308868 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01070.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0004t0001others(2): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 others(8): Show |
11 | 71 | 0.1549 | 9 | c.883 others(28): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107481928 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG01099.hp1 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0001c0001t0004a0002c0009t0003 | a0001c0001t0001g0014 a0001c0001t0004g0030 a0002c0009t0003g0056 |
3 | 182 | 0.0165 | 9 | c.113 others(30): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107503756 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02622.hp1 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0012a0002c0002others(10): Show | a0001c0001t0002a0001c0001t0006a0001c0012t0004others(15): Show | a0001c0001t0002g0042 a0001c0001t0006g0102 a0001c0012t0004g0039 others(16): Show |
19 | 91 | 0.2088 | 9 | c.113 others(30): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107548186 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(103): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0011others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(103): Show |
106 | 186 | 0.5699 | 9 | c.149 others(28): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49803239 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(127): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0028 others(96): Show |
130 | 197 | 0.6599 | 9 | c.17- others(22): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37101445 | G | GTATTCTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01099.hp2 HG01106.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0130 others(4): Show |
7 | 298 | 0.0235 | 9 | c.656 others(28): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02145.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0026a0001c0004t0005 | a0001c0001t0001g0046 a0001c0001t0001g0202 a0001c0001t0001g0215 others(3): Show |
6 | 104 | 0.0577 | 9 | c.507 others(28): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109133864 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03453.hp2 NA18612.hp1 others(2): Show |
a0001a0002a0006 | a0001c0022a0002c0024a0006c0026others(1): Show | a0001c0022t0004a0002c0024t0003a0006c0026t0016others(1): Show | a0001c0022t0004g0006 a0001c0022t0004g0007 a0002c0024t0003g0036 others(2): Show |
5 | 245 | 0.0204 | 9 | c.-9- others(24): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109157272 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01106.hp2 others(9): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0003a0001c0016others(6): Show | a0001c0002t0001a0001c0003t0004a0001c0016t0011others(6): Show | a0001c0002t0001g0079 a0001c0002t0001g0091 a0001c0002t0001g0280 others(9): Show |
12 | 65 | 0.1846 | 9 | c.654 others(26): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641611 | A | AGAGGAGG others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02083.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0133 others(9): Show |
14 | 312 | 0.0449 | 9 | c.537 others(24): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132641629 | G | GGAGGAAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00621.hp1 others(70): Show |
a0001 | a0001c0001a0001c0009a0001c0010 | a0001c0001t0001a0001c0009t0001a0001c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(64): Show |
73 | 309 | 0.2362 | 9 | c.537 others(24): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132641686 | G | GGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02083.hp2 HG02165.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0279 a0001c0001t0002g0281 others(4): Show |
8 | 278 | 0.0288 | 9 | c.537 others(24): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACADM_chr1_75719709_75768679 | 75760544 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0070 a0001c0001t0001g0095 others(9): Show |
12 | 33 | 0.3636 | 9 | c.946 others(24): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88860072 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02717.hp2 HG02886.hp2 others(4): Show |
a0016a0018a0038others(3): Show | a0016c0108a0018c0016a0038c0028others(3): Show | a0016c0108t0001a0018c0016t0001a0038c0028t0001others(3): Show | a0016c0108t0001g0269 a0018c0016t0001g0146 a0018c0016t0001g0318 others(4): Show |
7 | 228 | 0.0307 | 9 | c.683 others(26): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88860545 | G | GCTCAGGC others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG01496.hp1 others(40): Show |
a0005a0007a0010others(19): Show | a0005c0091a0007c0012a0007c0034others(28): Show | a0005c0091t0001a0007c0012t0001a0007c0034t0001others(30): Show | a0005c0091t0001g0293 a0007c0012t0001g0073 a0007c0012t0001g0175 others(40): Show |
43 | 366 | 0.1175 | 9 | c.694 others(26): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195351129 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0229 others(16): Show |
19 | 192 | 0.0990 | 9 | c.286 others(26): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar |