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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASH1L_chr1_155330268_155567803 | 155448345 | T | TTTG | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp1 others(5): Show |
a0003a0004a0008 | a0003c0003a0004c0004a0008c0013 | a0003c0003t0003a0004c0004t0004a0008c0013t0002 | a0003c0003t0003g0176a0003c0003t0003g0177a0003c0003t0003g0178others(5): Show | 8 | 182 | 0.0440 | 3 | c.508 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 4/27 | chr1 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155473492 | A | ATTT | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02258.hp2 others(8): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0012 | a0001c0001t0001a0001c0001t0005a0003c0003t0003others(1): Show | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0108others(8): Show | 11 | 182 | 0.0604 | 3 | c.498 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 3/27 | chr1 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155532965 | G | GAGA | intron_variant | MODIFIER | HG03239.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0171a0001c0001t0012g0003 | 2 | 182 | 0.0110 | 3 | c.-99 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155545175 | C | CAAA | intron_variant | MODIFIER | HG00408.hp2 HG01071.hp2 HG01261.hp2 others(23): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0007c0007others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(23): Show | 26 | 182 | 0.1429 | 3 | c.-10 others(24): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38100924 | C | CTTT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01358.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0003others(10): Show | 14 | 330 | 0.0424 | 3 | c.-46 others(14): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 4604 | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38101626 | C | CAAA | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01952.hp2 NA18949.hp1 others(4): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0001 | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0250others(4): Show | 7 | 330 | 0.0212 | 3 | c.-39 others(14): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3902 | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38142232 | C | CTTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp1 others(32): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004 | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0003others(23): Show | 35 | 330 | 0.1061 | 3 | c.*31 others(14): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 2153 | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38143305 | A | ATTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00544.hp2 others(56): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0003others(45): Show | 59 | 330 | 0.1788 | 3 | c.*42 others(14): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3226 | chr8 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50079427 | A | AATC | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02486.hp2 others(11): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0003t0004a0001c0007t0001 | a0001c0003t0001g0028a0001c0003t0001g0061a0001c0003t0001g0068others(10): Show | 14 | 324 | 0.0432 | 3 | c.105 others(20): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ASIC2_chr17_33008087_33298295 | 33032440 | G | GTTT | intron_variant | MODIFIER | HG01175.hp2 HG01261.hp2 HG02055.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0020others(6): Show | a0001c0001t0003g0077a0001c0001t0009g0073a0001c0001t0020g0021others(6): Show | 9 | 240 | 0.0375 | 3 | c.988 others(20): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33037130 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00597.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(22): Show | a0001c0001t0003g0014a0001c0001t0003g0015a0001c0001t0003g0018others(76): Show | 80 | 240 | 0.3333 | 3 | c.988 others(20): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33038888 | C | CCTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00597.hp1 others(131): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(35): Show | a0001c0001t0003g0014a0001c0001t0003g0015a0001c0001t0003g0018others(130): Show | 134 | 240 | 0.5583 | 3 | c.988 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33126856 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(69): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(21): Show | a0001c0001t0003g0035a0001c0001t0003g0043a0001c0001t0003g0044others(69): Show | 72 | 240 | 0.3000 | 3 | c.709 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33150849 | C | CAAA | intron_variant | MODIFIER | HG01346.hp1 HG02622.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0019a0001c0002t0002others(2): Show | a0001c0001t0004g0063a0001c0001t0019g0225a0001c0002t0002g0098others(2): Show | 5 | 240 | 0.0208 | 3 | c.709 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33151460 | C | CTTG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(154): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(46): Show | a0001c0001t0003g0014a0001c0001t0003g0015a0001c0001t0003g0020others(154): Show | 157 | 240 | 0.6542 | 3 | c.709 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33164447 | T | TGTG | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(78): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(24): Show | a0001c0001t0003g0013a0001c0001t0003g0015a0001c0001t0003g0018others(77): Show | 81 | 240 | 0.3375 | 3 | c.709 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33214681 | T | TAAC | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(154): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(40): Show | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0015others(153): Show | 157 | 240 | 0.6542 | 3 | c.708 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33255028 | C | CTTT | intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG01517.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0003g0044a0001c0001t0004g0010a0001c0001t0007g0228others(17): Show | 20 | 240 | 0.0833 | 3 | c.708 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33278199 | A | ATTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG01175.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0003g0035a0001c0001t0003g0044a0001c0001t0003g0052others(29): Show | 32 | 240 | 0.1333 | 3 | c.708 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC4_chr2_219509482_219543772 | 219518517 | C | CTCT | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0006others(7): Show | a0001c0001t0001a0001c0002t0001a0002c0006t0001others(8): Show | a0001c0001t0001g0154a0001c0001t0001g0240a0001c0002t0001g0187others(17): Show | 25 | 372 | 0.0672 | 3 | c.582 others(20): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASIC4_chr2_219509482_219543772 | 219523301 | C | CGGA | intron_variant | MODIFIER | HG00597.hp1 HG01123.hp2 HG01981.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0018a0002c0006others(4): Show | a0001c0002t0001a0001c0018t0001a0002c0006t0001others(5): Show | a0001c0002t0001g0051a0001c0018t0001g0149a0002c0006t0001g0015others(13): Show | 22 | 372 | 0.0591 | 3 | c.582 others(20): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASIC4_chr2_219509482_219543772 | 219534031 | C | CAAA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01891.hp2 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0024others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0024t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0045a0001c0001t0001g0142others(10): Show | 18 | 372 | 0.0484 | 3 | c.107 others(22): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASIC4_chr2_219509482_219543772 | 219534031 | C | CAGA | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG01168.hp1 others(10): Show |
a0001a0002a0003 | a0001c0002a0002c0006a0003c0004others(1): Show | a0001c0002t0001a0002c0006t0001a0003c0004t0001others(1): Show | a0001c0002t0001g0047a0002c0006t0001g0021a0003c0004t0001g0048others(8): Show | 13 | 372 | 0.0350 | 3 | c.107 others(22): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASIC5_chr4_155824729_155871277 | 155827730 | C | CAAA | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012a0001c0002t0001g0003a0001c0002t0001g0023others(2): Show | 8 | 334 | 0.0240 | 3 | c.*21 others(14): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 1998 | chr4 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34253447 | T | TTTA | intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02559.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051a0001c0001t0001g0077a0001c0001t0001g0078others(14): Show | 20 | 306 | 0.0654 | 3 | c.-10 others(20): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34258770 | A | ATAC | intron_variant | MODIFIER | HG00738.hp1 HG01169.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0013others(17): Show | 28 | 306 | 0.0915 | 3 | c.-10 others(20): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34258779 | G | GTAT | intron_variant | MODIFIER | HG00738.hp1 HG01169.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0013others(17): Show | 28 | 306 | 0.0915 | 3 | c.-10 others(20): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34267459 | C | CAAA | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01169.hp1 others(28): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0013others(20): Show | 31 | 306 | 0.1013 | 3 | c.223 others(20): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34267950 | A | ATTC | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(103): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0013others(90): Show | 106 | 306 | 0.3464 | 3 | c.223 others(20): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASL_chr7_66070819_66098576 | 66072041 | C | CTTT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0025others(13): Show | 41 | 316 | 0.1298 | 3 | c.-38 others(14): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 3777 | chr7 | TogoVar | ||||||
ASL_chr7_66070819_66098576 | 66078626 | C | CTTA | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0027others(7): Show | 19 | 316 | 0.0601 | 3 | c.12+ others(18): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASMTL_chrX_1398139_1457909 | 1398596 | C | CCCA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01070.hp2 others(10): Show |
a0000a0001a0013 | a0000c0007a0000c0030a0000c0039others(3): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(3): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(10): Show | 13 | 185 | 0.0703 | 3 | c.*46 others(14): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4542 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1406571 | T | TGGA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00733.hp1 others(16): Show |
a0000a0001a0002others(2): Show | a0000c0007a0000c0030a0000c0039others(7): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(7): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(16): Show | 19 | 185 | 0.1027 | 3 | c.164 others(22): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1407004 | T | TAGA | intron_variant | MODIFIER | HG06807.hp2 | a0013 | a0013c0036 | a0013c0036t0001 | a0013c0036t0001g0147 | 1 | 185 | 0.0054 | 3 | c.164 others(22): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1413348 | A | AGGC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(60): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0008a0001c0011others(14): Show | a0001c0001t0001a0001c0008t0001a0001c0011t0001others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0022others(60): Show | 63 | 185 | 0.3405 | 3 | c.152 others(20): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1415471 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(161): Show |
a0000a0001a0002others(20): Show | a0000c0007a0000c0039a0000c0043others(37): Show | a0000c0007t0001a0000c0039t0001a0000c0043t0001others(39): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(160): Show | 164 | 185 | 0.8865 | 3 | c.152 others(22): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1420960 | A | ATTT | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01884.hp2 others(5): Show |
a0001a0002a0007others(1): Show | a0001c0011a0001c0042a0002c0031others(3): Show | a0001c0011t0001a0001c0042t0001a0002c0031t0001others(3): Show | a0001c0011t0001g0174a0001c0011t0001g0178a0001c0042t0001g0005others(5): Show | 8 | 185 | 0.0432 | 3 | c.124 others(20): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 9/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1433501 | T | TAAA | intron_variant | MODIFIER | HG00099.hp1 NA18990.hp2 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0051 | 3 | 185 | 0.0162 | 3 | c.401 others(20): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1434489 | C | CAAA | intron_variant | MODIFIER | HG02080.hp1 HG02080.hp2 |
a0001 | a0001c0008a0001c0035 | a0001c0008t0001a0001c0035t0001 | a0001c0008t0001g0127a0001c0035t0001g0122 | 2 | 185 | 0.0108 | 3 | c.400 others(18): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1446500 | A | ATTT | intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009 | 1 | 185 | 0.0054 | 3 | c.94- others(18): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1456286 | C | CTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(51): Show |
a0000a0001a0002others(6): Show | a0000c0007a0001c0001a0001c0008others(15): Show | a0000c0007t0001a0001c0001t0001a0001c0008t0001others(16): Show | a0000c0007t0001g0126a0001c0001t0001g0002a0001c0001t0001g0022others(51): Show | 54 | 185 | 0.2919 | 3 | c.-34 others(14): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 3378 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1613951 | C | CTTT | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02273.hp1 HG03831.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0004 | a0001c0001t0002a0001c0001t0005a0001c0003t0002others(1): Show | a0001c0001t0002g0201a0001c0001t0005g0165a0001c0003t0002g0182others(1): Show | 4 | 223 | 0.0179 | 3 | c.-12 others(14): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1107 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1614625 | A | AGGG | upstream_gene_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 223 | 0.0045 | 3 | c.-57 others(12): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 433 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1619549 | T | TATA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(49): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(10): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(49): Show | 52 | 223 | 0.2332 | 3 | c.70- others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1620927 | C | CAAA | intron_variant | MODIFIER | HG02622.hp1 HG03453.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0072a0001c0001t0001g0214 | 3 | 223 | 0.0135 | 3 | c.70- others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1623611 | T | TGAG | intron_variant | MODIFIER | NA18988.hp1 | a0014 | a0014c0018 | a0014c0018t0001 | a0014c0018t0001g0060 | 1 | 223 | 0.0045 | 3 | c.244 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1625104 | C | CTTT | intron_variant | MODIFIER | HG00741.hp2 HG02280.hp1 HG03195.hp1 others(3): Show |
a0001a0002a0014 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(3): Show | 6 | 223 | 0.0269 | 3 | c.374 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1625954 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG01361.hp1 others(7): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0065a0001c0001t0002g0120a0001c0003t0002g0150others(7): Show | 10 | 223 | 0.0448 | 3 | c.374 others(20): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1628830 | T | TCTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(160): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(160): Show | 163 | 223 | 0.7309 | 3 | c.444 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1630300 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(34): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0079others(34): Show | 37 | 223 | 0.1659 | 3 | c.562 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar |