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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKR1C3_chr10_5089414_5112686 | 5100923 | TATA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01109.hp1 others(6): Show |
a0004a0005 | a0004c0005a0005c0007 | a0004c0005t0001a0005c0007t0002 | a0004c0005t0001g0018a0004c0005t0001g0019a0005c0007t0002g0062 | 9 | 438 | 0.0206 | -3 | c.571 others(20): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1C3_chr10_5089414_5112686 | 5107365 | TAAC | T | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02897.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0002 | a0001c0001t0002g0035a0005c0007t0002g0015a0005c0007t0002g0062 | 8 | 438 | 0.0183 | -3 | c.930 others(16): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1C3_chr10_5089414_5112686 | 5108681 | CATT | C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02809.hp2 NA19030.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0030a0002c0003t0003g0124 | 3 | 438 | 0.0069 | -3 | c.*11 others(14): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 996 | chr10 | TogoVar | ||||||
AKR1C4_chr10_5191837_5223949 | 5204013 | AACT | A | intron_variant | MODIFIER | HG03486.hp2 NA18906.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0193a0001c0001t0001g0208 | 4 | 434 | 0.0092 | -3 | c.253 others(18): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
AKR1C4_chr10_5191837_5223949 | 5206865 | TTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(353): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(173): Show | 356 | 434 | 0.8203 | -3 | c.570 others(18): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1C4_chr10_5191837_5223949 | 5210606 | ATTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(328): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0003a0004c0006others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(165): Show | 331 | 434 | 0.7627 | -3 | c.571 others(20): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1C4_chr10_5191837_5223949 | 5214682 | CTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG01070.hp2 others(46): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0002t0003a0002c0005t0002 | a0002c0002t0002g0003a0002c0002t0002g0016a0002c0002t0002g0023others(20): Show | 49 | 434 | 0.1129 | -3 | c.846 others(20): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1C4_chr10_5191837_5223949 | 5219180 | AAAG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01168.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0101others(5): Show | 17 | 434 | 0.0392 | -3 | c.*42 others(12): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 232 | chr10 | TogoVar | ||||||
AKR1C4_chr10_5191837_5223949 | 5221448 | AATG | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG01070.hp2 others(46): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0002t0003a0002c0005t0002 | a0002c0002t0002g0003a0002c0002t0002g0016a0002c0002t0002g0023others(20): Show | 49 | 434 | 0.1129 | -3 | c.*26 others(14): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 2500 | chr10 | TogoVar | ||||||
AKR1C8_chr10_5148920_5190150 | 5157365 | TAGA | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00738.hp1 others(40): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0006 | a0002c0003t0001g0016a0002c0003t0001g0024a0002c0003t0001g0053others(30): Show | 43 | 408 | 0.1054 | -3 | c.855 others(18): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 7/8 | chr10 | TogoVar | ||||||
AKR1C8_chr10_5148920_5190150 | 5158538 | TAGG | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(40): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0002a0003c0006t0002 | a0003c0004t0002g0005a0003c0004t0002g0008a0003c0004t0002g0009others(27): Show | 43 | 408 | 0.1054 | -3 | c.689 others(16): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 6/8 | chr10 | TogoVar | ||||||
AKR1C8_chr10_5148920_5190150 | 5163978 | TCTC | T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0058a0001c0001t0001g0059others(1): Show | 6 | 408 | 0.0147 | -3 | c.94- others(16): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
AKR1C8_chr10_5148920_5190150 | 5171236 | TGAA | T | intron_variant | MODIFIER | HG01106.hp1 HG01257.hp2 HG01361.hp2 others(33): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0005a0003c0004t0002g0008a0003c0004t0002g0009others(21): Show | 36 | 408 | 0.0882 | -3 | c.94- others(18): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
AKR1D1_chr7_138071459_138123305 | 138081506 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(63): Show |
a0001a0003a0004 | a0001c0001a0003c0007a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0075others(56): Show | 66 | 426 | 0.1549 | -3 | c.93+ others(18): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1D1_chr7_138071459_138123305 | 138093682 | TAGA | T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031a0001c0001t0048others(3): Show | a0001c0001t0001g0237a0001c0001t0001g0238a0001c0001t0031g0257others(4): Show | 7 | 426 | 0.0164 | -3 | c.378 others(20): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1D1_chr7_138071459_138123305 | 138096763 | GCTT | G | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0020a0001c0001t0030others(3): Show | a0001c0001t0013g0108a0001c0001t0013g0360a0001c0001t0013g0361others(8): Show | 11 | 426 | 0.0258 | -3 | c.379 others(20): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1D1_chr7_138071459_138123305 | 138100560 | AAAG | A | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0035a0001c0001t0063 | a0001c0001t0020g0316a0001c0001t0020g0317a0001c0001t0020g0318others(3): Show | 6 | 426 | 0.0141 | -3 | c.456 others(20): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1E2_chr10_4821207_4853062 | 4827306 | ATTG | A | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01099.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0105a0001c0001t0001g0138 | 12 | 358 | 0.0335 | -3 | c.39+ others(16): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1E2_chr10_4821207_4853062 | 4827706 | ATAT | A | intron_variant | MODIFIER | NA18612.hp1 NA18950.hp2 NA18961.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0014 | a0002c0002t0003g0016a0002c0002t0014g0016 | 4 | 358 | 0.0112 | -3 | c.39+ others(18): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1E2_chr10_4821207_4853062 | 4828981 | TATC | T | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(2): Show | 6 | 358 | 0.0168 | -3 | c.40- others(18): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR7A2_chr1_19298965_19317144 | 19303636 | GTTC | G | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 5 | 460 | 0.0109 | -3 | c.*58 others(12): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 328 | chr1 | TogoVar | ||||||
AKR7A2_chr1_19298965_19317144 | 19316671 | TTTG | T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(15): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0005others(3): Show | a0001c0001t0001a0003c0003t0001a0005c0005t0001others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0071a0001c0001t0001g0075others(8): Show | 18 | 460 | 0.0391 | -3 | c.-45 others(14): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 4528 | chr1 | TogoVar | ||||||
AKT1S1_chr19_49864039_49882355 | 49865623 | TTTC | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01433.hp2 HG01934.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0024others(7): Show | 33 | 420 | 0.0786 | -3 | c.*42 others(14): Show |
AKT1S1 | ENSG00000204673.11 | transcript | ENST00000344175.10 | protein_coding | 3415 | chr19 | TogoVar | ||||||
AKT2_chr19_40225317_40290345 | 40231089 | TCTA | T | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01255.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0023others(2): Show | a0001c0001t0003g0007a0001c0001t0003g0008a0001c0001t0003g0009others(45): Show | 51 | 360 | 0.1417 | -3 | c.*27 others(14): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 14/14 | 2780 | chr19 | TogoVar | |||||
AKT2_chr19_40225317_40290345 | 40244056 | AAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(99): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0136a0001c0001t0001g0149a0001c0001t0001g0157others(94): Show | 102 | 360 | 0.2833 | -3 | c.288 others(20): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4/13 | chr19 | TogoVar | ||||||
AKT2_chr19_40225317_40290345 | 40276345 | CTTT | C | intron_variant | MODIFIER | HG01192.hp2 HG02080.hp2 HG02083.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0160others(22): Show | 25 | 360 | 0.0694 | -3 | c.-85 others(20): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243511494 | AGAG | A | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0029 | a0001c0001t0020g0286a0001c0001t0020g0293a0001c0001t0029g0151 | 3 | 301 | 0.0100 | -3 | c.135 others(20): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243582447 | CAAA | C | intron_variant | MODIFIER | HG01257.hp1 HG01496.hp2 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0077a0001c0001t0001g0210a0001c0001t0001g0259others(6): Show | 9 | 301 | 0.0299 | -3 | c.697 others(20): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 8/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243618885 | AGAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0065a0001c0001t0001g0140a0001c0001t0001g0141others(95): Show | 98 | 301 | 0.3256 | -3 | c.562 others(20): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243625124 | GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0065a0001c0001t0001g0070a0001c0001t0001g0137others(74): Show | 77 | 301 | 0.2558 | -3 | c.562 others(20): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243662701 | TATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(54): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0065a0001c0001t0001g0070a0001c0001t0001g0154others(54): Show | 57 | 301 | 0.1894 | -3 | c.284 others(20): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243702109 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00738.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0019others(2): Show | a0001c0001t0002g0188a0001c0001t0007g0266a0001c0001t0007g0267others(8): Show | 11 | 301 | 0.0365 | -3 | c.47- others(18): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243757632 | AAAG | A | intron_variant | MODIFIER | HG02015.hp1 NA18941.hp1 NA18970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233a0001c0001t0001g0237a0001c0001t0001g0238others(1): Show | 4 | 301 | 0.0133 | -3 | c.47- others(20): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243810288 | TAAA | T | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0001g0206a0001c0001t0003g0204a0001c0001t0003g0205others(7): Show | 10 | 301 | 0.0332 | -3 | c.46+ others(20): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243853217 | GTTT | G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01106.hp1 HG02040.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0101others(15): Show | 18 | 301 | 0.0598 | -3 | c.-32 others(14): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2975 | chr1 | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113383538 | TTTC | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(141): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0061a0001c0001t0001g0170a0001c0001t0001g0215others(100): Show | 144 | 446 | 0.3229 | -3 | c.*47 others(14): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 2773 | chr9 | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113385322 | CTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp2 others(54): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0061a0001c0001t0001g0215a0001c0001t0002g0010others(37): Show | 57 | 446 | 0.1278 | -3 | c.*29 others(14): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 989 | chr9 | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113397620 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(15): Show | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0001g0058others(30): Show | 49 | 446 | 0.1099 | -3 | c.-76 others(20): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
ALAS1_chr3_52193160_52219327 | 52194048 | AAAG | A | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01361.hp2 HG02683.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0033a0001c0002t0001g0082 | 3 | 354 | 0.0085 | -3 | c.-44 others(14): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4111 | chr3 | TogoVar | ||||||
ALAS2_chrX_55004055_55035977 | 55029200 | AATT | A | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 284 | 0.0035 | -3 | c.-16 others(20): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 1/10 | chrX | TogoVar | ||||||
ALAS2_chrX_55004055_55035977 | 55029208 | CTTG | C | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 284 | 0.0035 | -3 | c.-16 others(20): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 1/10 | chrX | TogoVar | ||||||
ALAS2_chrX_55004055_55035977 | 55031768 | TCTC | T | upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 284 | 0.0035 | -3 | c.-84 others(12): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 792 | chrX | TogoVar | ||||||
ALAS2_chrX_55004055_55035977 | 55034595 | TAAA | T | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 284 | 0.0035 | -3 | c.-36 others(14): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 3619 | chrX | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105405277 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(96): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(12): Show | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0001g0067others(96): Show | 99 | 378 | 0.2619 | -3 | c.73+ others(20): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105425082 | TGAG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(62): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(7): Show | a0001c0001t0001g0020a0001c0001t0001g0109a0001c0001t0001g0113others(58): Show | 65 | 378 | 0.1720 | -3 | c.73+ others(20): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105432482 | ATCC | A | intron_variant | MODIFIER | HG01099.hp2 HG01981.hp1 HG04228.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0017a0001c0002t0003g0094a0001c0002t0003g0095 | 3 | 378 | 0.0079 | -3 | c.73+ others(20): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105447130 | TTTA | T | intron_variant | MODIFIER | HG01975.hp1 HG02451.hp2 HG02486.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024a0001c0001t0004g0154a0001c0001t0004g0265others(8): Show | 11 | 378 | 0.0291 | -3 | c.74- others(20): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105454653 | ATTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00738.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0138a0001c0001t0001g0243others(24): Show | 28 | 378 | 0.0741 | -3 | c.74- others(20): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105455441 | CAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG01175.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0103a0001c0001t0001g0330a0001c0001t0001g0331others(29): Show | 32 | 378 | 0.0847 | -3 | c.74- others(20): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105485621 | TATC | T | intron_variant | MODIFIER | HG02071.hp1 HG02129.hp1 HG02135.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0184a0002c0004t0002g0193a0002c0004t0002g0194 | 3 | 378 | 0.0079 | -3 | c.74- others(20): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |