regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALK_chr2_29187774_29926586 | 29706975 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG03195.hp2 NA19240.hp1 |
a0001a0007 | a0001c0040a0007c0044 | a0001c0040t0001a0007c0044t0012 | a0001c0040t0001g0022a0007c0044t0012g0077 | 2 | 80 | 0.0250 | -14 | c.787 others(33): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29785912 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG02055.hp1 HG02145.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0017others(14): Show | a0001c0004t0001a0001c0006t0001a0001c0017t0001others(14): Show | a0001c0004t0001g0021a0001c0006t0001g0026a0001c0017t0001g0012others(16): Show | 19 | 80 | 0.2375 | -14 | c.668 others(33): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29785946 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0067 | 1 | 80 | 0.0125 | -14 | c.668 others(33): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29830712 | TTAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG02071.hp1 others(1): Show |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0005others(1): Show | a0001c0004t0008a0002c0001t0001a0003c0005t0002others(1): Show | a0001c0004t0008g0003a0002c0001t0001g0063a0003c0005t0002g0032others(1): Show | 4 | 80 | 0.0500 | -14 | c.667 others(33): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29852832 | TTCTCTCT others(7): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG02055.hp2 others(7): Show |
a0001a0002a0003 | a0001c0004a0001c0006a0001c0025others(6): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(7): Show | a0001c0004t0001g0037a0001c0004t0008g0003a0001c0006t0001g0036others(7): Show | 10 | 80 | 0.1250 | -14 | c.667 others(33): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29889687 | TAGATAGA others(7): Show |
T | intron_variant | MODIFIER | HG02895.hp1 NA19240.hp1 |
a0001a0007 | a0001c0039a0007c0044 | a0001c0039t0013a0007c0044t0012 | a0001c0039t0013g0079a0007c0044t0012g0077 | 2 | 80 | 0.0250 | -14 | c.667 others(33): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29889695 | CAGAGAGA others(7): Show |
C | intron_variant | MODIFIER | HG03041.hp1 NA18906.hp1 |
a0001a0003 | a0001c0017a0003c0034 | a0001c0017t0001a0003c0034t0002 | a0001c0017t0001g0012a0003c0034t0002g0071 | 2 | 80 | 0.0250 | -14 | c.667 others(33): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29894839 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG03195.hp1 HG03195.hp2 NA18906.hp2 |
a0001a0004 | a0001c0004a0001c0040a0004c0002 | a0001c0004t0001a0001c0040t0001a0004c0002t0003 | a0001c0004t0001g0021a0001c0040t0001g0022a0004c0002t0003g0041 | 3 | 80 | 0.0375 | -14 | c.667 others(33): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3668976 | TCACCAGC others(7): Show |
T | intron_variant | MODIFIER | NA18961.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0206 | 1 | 274 | 0.0037 | -14 | c.-62 others(31): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3690317 | TCCCCCCT others(7): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0025 | 1 | 274 | 0.0037 | -14 | c.512 others(31): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3704598 | GCGTGGGG others(7): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp2 HG03453.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0238a0002c0002t0002g0242 | 2 | 274 | 0.0073 | -14 | c.*20 others(25): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1928 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73394979 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
a0005 | a0005c0005a0005c0058 | a0005c0005t0001a0005c0058t0001 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | 248 | 0.0524 | -14 | c.324 others(31): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73515768 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 248 | 0.0040 | -14 | c.954 others(33): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73568995 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG02071.hp2 others(3): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0002a0007c0006others(1): Show | a0001c0001t0001a0003c0002t0001a0007c0006t0001others(1): Show | a0001c0001t0001g0136a0001c0001t0001g0218a0003c0002t0001g0013others(3): Show | 6 | 248 | 0.0242 | -14 | c.103 others(35): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73613484 | GATATTTG others(7): Show |
G | downstream_gene_variant | MODIFIER | NA18950.hp2 | a0022 | a0022c0028 | a0022c0028t0001 | a0022c0028t0001g0010 | 1 | 248 | 0.0040 | -14 | c.*38 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 3569 | chr2 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8087227 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02630.hp2 others(5): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0159a0001c0001t0001g0162others(4): Show | 8 | 462 | 0.0173 | -14 | c.147 others(27): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
ALOX5AP_chr13_30730543_30769426 | 30741103 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0014others(25): Show | 39 | 422 | 0.0924 | -14 | c.71- others(29): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALOX5AP_chr13_30730543_30769426 | 30756813 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 422 | 0.0024 | -14 | c.323 others(29): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALPK2_chr18_58476247_58634091 | 58479068 | ATATATAT others(7): Show |
A | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0285 | 1 | 320 | 0.0031 | -14 | c.*27 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2178 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58481010 | CTACATCT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02723.hp2 HG03209.hp1 |
a0021a0039 | a0021c0073a0039c0095 | a0021c0073t0001a0039c0095t0001 | a0021c0073t0001g0168a0039c0095t0001g0142 | 2 | 320 | 0.0063 | -14 | c.*79 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 236 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58502134 | CCACACAC others(7): Show |
C | intron_variant | MODIFIER | HG01981.hp1 HG02258.hp1 HG03209.hp2 |
a0001a0006a0026 | a0001c0006a0006c0024a0026c0043 | a0001c0006t0011a0006c0024t0001a0026c0043t0008 | a0001c0006t0011g0116a0006c0024t0001g0271a0026c0043t0008g0159 | 3 | 320 | 0.0094 | -14 | c.624 others(33): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58557706 | ATTTTGTC others(7): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(108): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0016a0002c0002others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0122a0001c0001t0001g0164a0001c0001t0001g0169others(108): Show | 111 | 320 | 0.3469 | -14 | c.196 others(35): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21538745 | AGCCAGGT others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0107others(351): Show | 357 | 370 | 0.9649 | -14 | c.-10 others(35): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALX3_chr1_110054870_110075672 | 110064005 | CTCCCAGC others(7): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0103a0001c0001t0006g0104 | 2 | 422 | 0.0047 | -14 | c.594 others(29): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 34012890 | CATAAATA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0073 | 1 | 438 | 0.0023 | -14 | c.-48 others(25): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4841 | chr5 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46400473 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01361.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0123others(1): Show | 4 | 160 | 0.0250 | -14 | c.340 others(33): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 17/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46425307 | CATTTGTG others(7): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099a0001c0002t0002g0101a0001c0002t0002g0110others(9): Show | 12 | 160 | 0.0750 | -14 | c.297 others(33): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46459739 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 160 | 0.0063 | -14 | c.252 others(35): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46583650 | TCCAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02109.hp2 HG02572.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0002t0002g0101others(9): Show | 12 | 160 | 0.0750 | -14 | c.-12 others(35): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46595535 | TAAAAAAA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099a0001c0002t0002g0102a0001c0002t0002g0142others(2): Show | 5 | 160 | 0.0313 | -14 | c.-18 others(25): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1513 | chr11 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95968332 | CTTGTCAA others(7): Show |
C | 3_prime_UTR_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0193 | 1 | 404 | 0.0025 | -14 | c.*49 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 9/9 | 490 | chr12 | TogoVar | |||||
AMDHD2_chr16_2515371_2536417 | 2533430 | ATTTTTTT others(7): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG01978.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 318 | 0.0157 | -14 | c.*38 others(25): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2534555 | TTGCCTAA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 318 | 0.0031 | -14 | c.*49 others(25): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 3139 | chr16 | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189504 | GTGTGTGT others(7): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0110 | 1 | 243 | 0.0041 | -14 | c.*36 others(23): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 361 | chrX | TogoVar | |||||
AMFR_chr16_56356452_56430545 | 56406128 | GGAGAGAG others(7): Show |
G | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0047 | 1 | 356 | 0.0028 | -14 | c.667 others(29): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109510370 | TACACACA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG02165.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0003a0001c0001t0004g0004a0001c0001t0007g0007others(2): Show | 18 | 400 | 0.0450 | -14 | c.-10 others(25): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 644 | chr1 | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110217502 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0015a0001c0001t0007g0016 | 2 | 155 | 0.0129 | -14 | c.585 others(29): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31698518 | GGTCAAAA others(7): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 432 | 0.0023 | -14 | c.317 others(29): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31699395 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG03098.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0377a0001c0001t0005g0378a0001c0001t0005g0379others(2): Show | 5 | 432 | 0.0116 | -14 | c.317 others(31): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31726669 | ATTACTAG others(7): Show |
A | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 432 | 0.0023 | -14 | c.38+ others(29): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
AMN_chr14_102917663_102935842 | 102931207 | AAGCGTGC others(7): Show |
A | downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 452 | 0.0022 | -14 | c.*52 others(23): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 366 | chr14 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94787687 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(139): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0025others(134): Show | 142 | 246 | 0.5772 | -14 | c.50- others(29): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL1_chr11_94763356_94881748 | 94867965 | CTGTCTCG others(7): Show |
C | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0062 | 1 | 246 | 0.0041 | -14 | c.248 others(33): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 11/12 | chr11 | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112805370 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01106.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0136a0001c0001t0001g0212a0001c0001t0004g0139others(15): Show | 18 | 270 | 0.0667 | -14 | c.163 others(31): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 7/13 | chrX | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38380798 | CCGATTCC others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01358.hp1 HG01433.hp1 HG01884.hp1 others(24): Show |
a0001a0003a0007 | a0001c0001a0001c0005a0001c0016others(3): Show | a0001c0001t0004a0001c0001t0009a0001c0005t0004others(4): Show | a0001c0001t0004g0006a0001c0001t0004g0012a0001c0001t0004g0081others(24): Show | 27 | 288 | 0.0938 | -14 | c.*40 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2905 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38390961 | CAGAGAGA others(7): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01168.hp1 others(11): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0014 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0058a0001c0001t0001g0082a0001c0001t0001g0097others(11): Show | 14 | 288 | 0.0486 | -14 | c.187 others(31): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 19/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38406731 | CCTCTCTC others(7): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03225.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079a0001c0001t0003g0122a0001c0001t0003g0148others(1): Show | 4 | 288 | 0.0139 | -14 | c.139 others(35): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38407070 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 288 | 0.0035 | -14 | c.139 others(35): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38407076 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 NA18981.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0002t0002g0266 | 3 | 288 | 0.0104 | -14 | c.139 others(35): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38416102 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(2): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0017others(1): Show | a0001c0001t0004a0001c0005t0004a0001c0017t0004others(1): Show | a0001c0001t0004g0086a0001c0005t0004g0013a0001c0005t0004g0139others(2): Show | 5 | 288 | 0.0174 | -14 | c.139 others(33): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar |