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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKT3_chr1_243494724_243855243 | 243508655 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG01175.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011 | a0001c0001t0001g0065a0001c0001t0001g0101a0001c0001t0001g0133others(4): Show | 7 | 301 | 0.0233 | -7 | c.135 others(26): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243526778 | TTAAAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00621.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0046others(56): Show | 59 | 301 | 0.1960 | -7 | c.125 others(28): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243608743 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(90): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0065a0001c0001t0001g0140a0001c0001t0001g0141others(90): Show | 93 | 301 | 0.3090 | -7 | c.696 others(24): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 8/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243838050 | CTTGATTG | C | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp2 HG02257.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0005g0285a0001c0001t0005g0288a0001c0001t0005g0289others(12): Show | 15 | 301 | 0.0498 | -7 | c.46+ others(22): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243854305 | TCTGTCTG | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0019others(2): Show | a0001c0001t0004g0020a0001c0001t0004g0021a0001c0001t0007g0266others(8): Show | 11 | 301 | 0.0365 | -7 | c.-43 others(18): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 4063 | chr1 | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113383534 | TTTCTTTC | T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01081.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0024a0001c0001t0001g0143a0001c0001t0002g0233others(11): Show | 15 | 446 | 0.0336 | -7 | c.*47 others(18): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 2777 | chr9 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105481141 | GTATCTTT | G | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0026a0001c0002t0003g0093a0001c0002t0003g0313others(1): Show | 4 | 378 | 0.0106 | -7 | c.74- others(24): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALDH16A1_chr19_49448225_49476050 | 49466864 | AAAAAAAC | A | intron_variant | MODIFIER | HG00733.hp2 HG01261.hp2 HG02055.hp1 others(14): Show |
a0002a0003a0004others(1): Show | a0002c0006a0003c0004a0004c0008others(1): Show | a0002c0006t0001a0003c0004t0002a0004c0008t0008others(2): Show | a0002c0006t0001g0153a0003c0004t0002g0027a0003c0004t0002g0125others(9): Show | 17 | 342 | 0.0497 | -7 | c.193 others(24): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ALDH18A1_chr10_95600941_95661711 | 95655131 | ATTATTAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(46): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0010a0001c0007t0002 | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0011others(32): Show | 49 | 372 | 0.1317 | -7 | c.-29 others(24): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 1/17 | chr10 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 57974432 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(82): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0010a0002c0002t0011others(4): Show | a0002c0002t0002g0003a0002c0002t0002g0057a0002c0002t0002g0058others(81): Show | 85 | 326 | 0.2607 | -7 | c.799 others(24): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 57975502 | GAAATCCA | G | intron_variant | MODIFIER | HG02273.hp1 NA18944.hp2 NA18961.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002a0002c0002t0003g0025a0002c0002t0003g0026others(6): Show | 10 | 326 | 0.0307 | -7 | c.799 others(24): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126098925 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00609.hp2 others(43): Show |
a0002a0003a0009others(2): Show | a0002c0002a0003c0003a0003c0023others(5): Show | a0002c0002t0001a0003c0003t0001a0003c0023t0001others(5): Show | a0002c0002t0001g0029a0003c0003t0001g0017a0003c0003t0001g0049others(42): Show | 46 | 338 | 0.1361 | -7 | c.*48 others(18): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 4644 | chr3 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105064114 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00735.hp1 others(24): Show |
a0001a0004a0011 | a0001c0001a0001c0002a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0265a0001c0001t0001g0266a0001c0001t0001g0267others(24): Show | 27 | 386 | 0.0700 | -7 | c.787 others(24): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 6/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105074457 | CCAAAAAA | C | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG03209.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0004a0001c0001t0006a0001c0002t0009others(2): Show | a0001c0001t0004g0251a0001c0001t0006g0250a0001c0002t0009g0252others(2): Show | 5 | 386 | 0.0130 | -7 | c.49- others(20): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
ALDH2_chr12_111761933_111822532 | 111818888 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01175.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0023others(4): Show | a0001c0001t0006g0125a0001c0001t0014g0044a0001c0001t0014g0045others(12): Show | 16 | 342 | 0.0468 | -7 | c.*93 others(18): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 1357 | chr12 | TogoVar | ||||||
ALDH3A2_chr17_19643751_19682596 | 19682365 | AAATTTAT | A | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004 | a0001c0001t0004g0023a0001c0001t0004g0047a0001c0001t0004g0048others(4): Show | 9 | 366 | 0.0246 | -7 | c.*67 others(18): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 4770 | chr17 | TogoVar | ||||||
ALDH3B1_chr11_68005327_68034276 | 68030112 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00642.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0002a0001c0003t0002a0001c0003t0005others(2): Show | a0001c0001t0002g0037a0001c0003t0002g0002a0001c0003t0002g0006others(12): Show | 44 | 374 | 0.1177 | -7 | c.*21 others(18): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 837 | chr11 | TogoVar | ||||||
ALDH4A1_chr1_18866430_18907555 | 18866622 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG01070.hp1 others(40): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0009others(27): Show | 43 | 406 | 0.1059 | -7 | c.*62 others(18): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 4807 | chr1 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24521857 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(104): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0009a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0024others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0020a0001c0001t0001g0141others(104): Show | 107 | 368 | 0.2908 | -7 | c.101 others(24): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH6A1_chr14_74051847_74089453 | 74080044 | ACAAAAAC | A | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02698.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0034others(1): Show | a0001c0001t0004g0286a0001c0001t0010g0019a0001c0001t0010g0046others(6): Show | 10 | 402 | 0.0249 | -7 | c.48+ others(22): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 1/11 | chr14 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126549073 | CAAAAAAA | C | intron_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG01106.hp2 others(108): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0012others(108): Show | 111 | 380 | 0.2921 | -7 | c.148 others(24): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 16/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126579993 | TTTAATTG | T | intron_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01123.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0278a0001c0001t0001g0284a0001c0001t0001g0287others(47): Show | 50 | 380 | 0.1316 | -7 | c.518 others(24): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 5/17 | chr5 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49902477 | CTGTGTGG | C | 3_prime_UTR_variant | MODIFIER | HG02040.hp2 HG02257.hp2 HG02451.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0008a0002c0013others(2): Show | a0001c0002t0006a0001c0002t0025a0001c0008t0024others(3): Show | a0001c0002t0006g0044a0001c0002t0006g0045a0001c0002t0006g0181others(12): Show | 20 | 348 | 0.0575 | -7 | c.*13 others(18): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1354 | chr22 | TogoVar | |||||
ALG14_chr1_94969405_95077951 | 94999343 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0024a0001c0001t0035others(11): Show | a0001c0001t0017g0312a0001c0001t0017g0380a0001c0001t0017g0381others(15): Show | 18 | 388 | 0.0464 | -7 | c.421 others(26): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
ALG5_chr13_36944738_37004340 | 36955686 | GAAAAAAA | G | intron_variant | MODIFIER | HG00609.hp1 HG01109.hp2 HG01192.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0028others(23): Show | 28 | 276 | 0.1015 | -7 | c.774 others(24): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 8/9 | chr13 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63387532 | CTTTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp2 HG02615.hp2 others(16): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0331a0001c0001t0003g0196a0001c0001t0003g0197others(16): Show | 19 | 388 | 0.0490 | -7 | c.83- others(22): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG8_chr11_78095946_78144626 | 78113715 | ACAAAAAC | A | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 NA18946.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0083a0001c0001t0001g0099a0001c0001t0001g0245others(1): Show | 4 | 402 | 0.0100 | -7 | c.777 others(22): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 7/12 | chr11 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78132833 | ATTTTTTT | A | intron_variant | MODIFIER | NA18944.hp2 NA18956.hp2 NA18961.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0118a0001c0001t0001g0119others(2): Show | 6 | 402 | 0.0149 | -7 | c.96- others(22): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111865859 | ATGTGGCT | A | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02895.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0287a0001c0001t0001g0291a0001c0001t0001g0293others(8): Show | 11 | 314 | 0.0350 | -7 | c.406 others(22): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 3/14 | chr11 | TogoVar | ||||||
ALKBH1_chr14_77667404_77713023 | 77703593 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00738.hp2 others(39): Show |
a0002a0003a0008 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0004a0002c0003t0006a0002c0003t0009others(3): Show | a0002c0002t0004g0008a0002c0002t0004g0069a0002c0002t0004g0070others(34): Show | 42 | 360 | 0.1167 | -7 | c.292 others(22): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18201831 | AGATAGAT | A | intron_variant | MODIFIER | HG00544.hp1 HG02132.hp2 NA18939.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0274a0001c0001t0003g0078a0001c0001t0003g0088others(1): Show | 4 | 418 | 0.0096 | -7 | c.852 others(24): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALKBH5_chr17_18178828_18214954 | 18202307 | CAAAACAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01975.hp1 HG01978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0038a0001c0001t0011g0061a0001c0001t0011g0062 | 4 | 418 | 0.0096 | -7 | c.852 others(24): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALKBH5_chr17_18178828_18214954 | 18208488 | GTTTTTGT | G | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00544.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0003g0003a0001c0001t0003g0005a0001c0001t0003g0011others(65): Show | 83 | 418 | 0.1986 | -7 | c.*11 others(16): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 4/4 | 112 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
ALKBH8_chr11_107497727_107570735 | 107511702 | AAGTAGCT | A | intron_variant | MODIFIER | HG00140.hp1 HG02683.hp2 HG03710.hp1 |
a0006 | a0006c0011a0006c0017 | a0006c0011t0001a0006c0017t0001 | a0006c0011t0001g0247a0006c0011t0001g0248a0006c0017t0001g0222 | 3 | 400 | 0.0075 | -7 | c.128 others(24): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 10/11 | chr11 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29216948 | ATGTGATG | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01074.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0040a0002c0055a0003c0003others(8): Show | a0001c0040t0001a0002c0055t0001a0003c0003t0002others(8): Show | a0001c0040t0001g0022a0002c0055t0001g0031a0003c0003t0002g0038others(13): Show | 16 | 80 | 0.2000 | -7 | c.364 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 23/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29226478 | CAAAAAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0006a0001c0009a0001c0025others(2): Show | a0001c0006t0007a0001c0009t0005a0001c0025t0011others(2): Show | a0001c0006t0007g0056a0001c0009t0005g0018a0001c0009t0005g0054others(3): Show | 6 | 80 | 0.0750 | -7 | c.306 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 18/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29403709 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp2 HG01109.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0009a0001c0038others(9): Show | a0001c0006t0001a0001c0009t0005a0001c0038t0001others(9): Show | a0001c0006t0001g0036a0001c0009t0005g0018a0001c0038t0001g0035others(9): Show | 12 | 80 | 0.1500 | -7 | c.115 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29416979 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01106.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0009a0001c0020a0002c0007others(6): Show | a0001c0009t0005a0001c0020t0005a0002c0007t0001others(6): Show | a0001c0009t0005g0018a0001c0020t0005g0005a0002c0007t0001g0066others(6): Show | 9 | 80 | 0.1125 | -7 | c.115 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29509927 | TTTGGGAC | T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02970.hp1 |
a0001a0005a0008 | a0001c0025a0005c0013a0008c0057 | a0001c0025t0011a0005c0013t0004a0008c0057t0002 | a0001c0025t0011g0074a0005c0013t0004g0020a0008c0057t0002g0023 | 3 | 80 | 0.0375 | -7 | c.115 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29523858 | GTTTTTTT | G | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01109.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0020a0001c0022a0001c0027others(10): Show | a0001c0020t0005a0001c0022t0001a0001c0027t0001others(10): Show | a0001c0020t0005g0005a0001c0022t0001g0007a0001c0027t0001g0013others(10): Show | 13 | 80 | 0.1625 | -7 | c.115 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29655025 | AAAAGCTG | A | intron_variant | MODIFIER | HG00738.hp2 HG02922.hp2 HG03540.hp2 |
a0001a0002 | a0001c0009a0001c0058a0002c0011 | a0001c0009t0005a0001c0058t0001a0002c0011t0001 | a0001c0009t0005g0018a0001c0058t0001g0024a0002c0011t0001g0051 | 3 | 80 | 0.0375 | -7 | c.952 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29830712 | TTAAAAAA | T | intron_variant | MODIFIER | HG00323.hp2 HG02257.hp1 HG02486.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0009a0001c0017a0001c0051others(6): Show | a0001c0009t0005a0001c0017t0001a0001c0051t0001others(6): Show | a0001c0009t0005g0054a0001c0017t0001g0012a0001c0051t0001g0019others(6): Show | 9 | 80 | 0.1125 | -7 | c.667 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29830966 | AGAAGAAG | A | intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0004a0001c0040 | a0001c0004t0001a0001c0040t0001 | a0001c0004t0001g0021a0001c0004t0001g0037a0001c0040t0001g0022 | 3 | 80 | 0.0375 | -7 | c.667 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29906937 | GTTTTTTT | G | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02572.hp1 others(8): Show |
a0001a0002a0005others(1): Show | a0001c0004a0001c0006a0001c0009others(7): Show | a0001c0004t0001a0001c0006t0007a0001c0009t0005others(7): Show | a0001c0004t0001g0021a0001c0006t0007g0056a0001c0009t0005g0018others(8): Show | 11 | 80 | 0.1375 | -7 | c.667 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29922509 | CAACACAG | C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02647.hp2 others(1): Show |
a0001a0002a0003 | a0001c0048a0002c0008a0003c0005others(1): Show | a0001c0048t0001a0002c0008t0001a0003c0005t0002others(1): Show | a0001c0048t0001g0047a0002c0008t0001g0044a0003c0005t0002g0045others(1): Show | 4 | 80 | 0.0500 | -7 | c.-18 others(18): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 924 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3657220 | TGAGAGAC | T | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01891.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0005a0002c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0005t0002others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0028a0001c0001t0001g0036others(22): Show | 25 | 274 | 0.0912 | -7 | c.-11 others(18): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 979 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3668566 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(52): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0002others(5): Show | a0001c0001t0001g0186a0001c0001t0002g0158a0001c0001t0002g0213others(47): Show | 55 | 274 | 0.2007 | -7 | c.-62 others(24): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73383206 | TCCCTTTC | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(136): Show |
a0002a0003a0004others(30): Show | a0002c0004a0002c0011a0002c0020others(45): Show | a0002c0004t0001a0002c0011t0001a0002c0020t0001others(45): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(136): Show | 139 | 248 | 0.5605 | -7 | c.-26 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2629 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73494356 | TACTGAAG | T | intron_variant | MODIFIER | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
a0002a0038 | a0002c0020a0002c0040a0038c0051 | a0002c0020t0001a0002c0040t0001a0038c0051t0001 | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(1): Show | 4 | 248 | 0.0161 | -7 | c.953 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73563740 | ATAAAAAT | A | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01070.hp2 others(103): Show |
a0002a0003a0004others(25): Show | a0002c0004a0002c0020a0002c0023others(36): Show | a0002c0004t0001a0002c0020t0001a0002c0023t0001others(36): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(103): Show | 106 | 248 | 0.4274 | -7 | c.103 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | TogoVar |