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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DAPK1_chr9_87492867_87713634 | 87674514 | CAAA | C | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp1 HG03486.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0024others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0024t0001others(2): Show | a0001c0001t0001g0141a0001c0004t0001g0177a0001c0024t0001g0004others(2): Show | 5 | 236 | 0.0212 | -3 | c.200 others(22): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87692952 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(20): Show | a0001c0001t0001g0028a0001c0001t0001g0080a0001c0001t0001g0096others(49): Show | 52 | 236 | 0.2203 | -3 | c.241 others(22): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87701720 | ATTT | A | intron_variant | MODIFIER | HG00735.hp1 HG02280.hp2 HG02970.hp1 others(4): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0004a0003c0007others(2): Show | a0001c0002t0013a0001c0004t0003a0003c0007t0001others(3): Show | a0001c0002t0013g0132a0001c0004t0003g0111a0003c0007t0001g0016others(4): Show | 7 | 236 | 0.0297 | -3 | c.287 others(22): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87705240 | ATTT | A | intron_variant | MODIFIER | HG00408.hp2 HG01192.hp1 HG01884.hp2 others(3): Show |
a0001a0002a0004 | a0001c0005a0001c0010a0002c0006others(3): Show | a0001c0005t0001a0001c0010t0001a0002c0006t0001others(3): Show | a0001c0005t0001g0235a0001c0010t0001g0231a0002c0006t0001g0100others(3): Show | 6 | 236 | 0.0254 | -3 | c.306 others(20): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87710420 | CCTT | C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02976.hp1 others(2): Show |
a0002a0003 | a0002c0003a0003c0012a0003c0017 | a0002c0003t0001a0003c0012t0001a0003c0012t0007others(1): Show | a0002c0003t0001g0216a0003c0012t0001g0105a0003c0012t0007g0043others(2): Show | 5 | 236 | 0.0212 | -3 | c.*30 others(14): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 1787 | chr9 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 63931418 | GGAA | G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02486.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0001 | a0001c0001t0001g0107a0001c0001t0003g0205a0002c0003t0001g0079others(3): Show | 6 | 214 | 0.0280 | -3 | c.584 others(18): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 5/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 63936979 | CAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01934.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(5): Show | a0001c0001t0001g0100a0001c0001t0001g0125a0001c0001t0001g0132others(14): Show | 17 | 214 | 0.0794 | -3 | c.583 others(20): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 5/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 63948270 | CAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp2 HG01168.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0004g0042a0001c0001t0004g0043a0001c0001t0005g0034others(12): Show | 15 | 214 | 0.0701 | -3 | c.454 others(20): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 4/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 63977521 | AAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(106): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(25): Show | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(106): Show | 109 | 214 | 0.5094 | -3 | c.315 others(20): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 3/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 63994586 | CTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00735.hp1 others(57): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0053a0001c0001t0001g0059a0001c0001t0001g0060others(57): Show | 60 | 214 | 0.2804 | -3 | c.93- others(20): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64002971 | GACC | G | intron_variant | MODIFIER | HG02818.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0040 | a0001c0001t0003g0206a0001c0001t0040g0209 | 2 | 214 | 0.0094 | -3 | c.93- others(20): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64008084 | TTGA | T | intron_variant | MODIFIER | HG01934.hp2 HG02735.hp2 HG03239.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(1): Show | a0001c0001t0001g0154a0001c0001t0012g0185a0001c0001t0014g0197others(2): Show | 5 | 214 | 0.0234 | -3 | c.93- others(20): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
DAPK2_chr15_63902036_64051485 | 64015309 | AGCT | A | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(36): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0004g0036a0001c0001t0004g0037a0001c0001t0004g0038others(36): Show | 39 | 214 | 0.1822 | -3 | c.92+ others(20): Show |
DAPK2 | ENSG00000035664.11 | transcript | ENST00000457488.6 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
DAPL1_chr2_158790317_158820990 | 158806847 | AAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0013others(134): Show | 241 | 360 | 0.6694 | -3 | c.147 others(18): Show |
DAPL1 | ENSG00000163331.12 | transcript | ENST00000309950.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DAPP1_chr4_99811827_99875190 | 99814217 | TATC | T | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02970.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0049a0001c0001t0013g0050a0001c0001t0013g0052 | 3 | 366 | 0.0082 | -3 | c.-26 others(14): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 2609 | chr4 | TogoVar | ||||||
DAPP1_chr4_99811827_99875190 | 99858503 | CAGG | C | intron_variant | MODIFIER | HG02630.hp1 HG02970.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0019a0001c0001t0007g0130 | 4 | 366 | 0.0109 | -3 | c.490 others(20): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 4/8 | chr4 | TogoVar | ||||||
DAPP1_chr4_99811827_99875190 | 99866766 | ATTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0007others(42): Show | 66 | 366 | 0.1803 | -3 | c.774 others(18): Show |
DAPP1 | ENSG00000070190.13 | transcript | ENST00000512369.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DAP_chr5_10674230_10766234 | 10687530 | TGTG | T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0286a0001c0001t0003g0001a0001c0001t0003g0019others(55): Show | 68 | 372 | 0.1828 | -3 | c.153 others(20): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10693157 | CGTA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0011others(81): Show | 91 | 372 | 0.2446 | -3 | c.153 others(20): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10724914 | CAGG | C | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01123.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0145a0001c0001t0001g0162a0001c0001t0001g0285others(28): Show | 35 | 372 | 0.0941 | -3 | c.152 others(22): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10739201 | CAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00558.hp2 others(89): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0011others(80): Show | 92 | 372 | 0.2473 | -3 | c.152 others(20): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10742140 | GTTC | G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0011others(77): Show | 87 | 372 | 0.2339 | -3 | c.152 others(20): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DAP_chr5_10674230_10766234 | 10755100 | GTAA | G | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0015a0001c0001t0001g0283a0001c0001t0001g0285others(2): Show | 6 | 372 | 0.0161 | -3 | c.55+ others(18): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
DARS1_chr2_135900881_135990626 | 135911737 | TAAG | T | intron_variant | MODIFIER | HG02559.hp1 HG02970.hp1 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0027a0001c0002t0029 | a0001c0002t0016g0261a0001c0002t0027g0262a0001c0002t0029g0260 | 3 | 378 | 0.0079 | -3 | c.123 others(20): Show |
DARS1 | ENSG00000115866.11 | transcript | ENST00000264161.9 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
DARS1_chr2_135900881_135990626 | 135944108 | TATA | T | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02970.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0016a0001c0002t0017others(4): Show | a0001c0002t0008g0250a0001c0002t0008g0252a0001c0002t0008g0253others(9): Show | 12 | 378 | 0.0318 | -3 | c.321 others(18): Show |
DARS1 | ENSG00000115866.11 | transcript | ENST00000264161.9 | protein_coding | 4/15 | chr2 | TogoVar | ||||||
DARS1_chr2_135900881_135990626 | 135951031 | TTGA | T | intron_variant | MODIFIER | HG00639.hp1 HG02258.hp1 HG02559.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0016a0001c0001t0023others(10): Show | a0001c0001t0015g0257a0001c0001t0015g0258a0001c0001t0016g0263others(16): Show | 19 | 378 | 0.0503 | -3 | c.321 others(20): Show |
DARS1 | ENSG00000115866.11 | transcript | ENST00000264161.9 | protein_coding | 4/15 | chr2 | TogoVar | ||||||
DARS1_chr2_135900881_135990626 | 135970252 | CAAA | C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02965.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0023a0001c0001t0024others(6): Show | a0001c0001t0015g0257a0001c0001t0015g0258a0001c0001t0023g0256others(12): Show | 15 | 378 | 0.0397 | -3 | c.218 others(20): Show |
DARS1 | ENSG00000115866.11 | transcript | ENST00000264161.9 | protein_coding | 3/15 | chr2 | TogoVar | ||||||
DARS2_chr1_173819673_173863546 | 173819865 | GTTT | G | upstream_gene_variant | MODIFIER | HG01943.hp2 NA18949.hp2 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0296a0001c0001t0001g0312a0001c0001t0003g0264 | 3 | 344 | 0.0087 | -3 | c.-53 others(14): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 4807 | chr1 | TogoVar | ||||||
DARS2_chr1_173819673_173863546 | 173821804 | CTTT | C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01069.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0239others(27): Show | 31 | 344 | 0.0901 | -3 | c.-34 others(14): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 2868 | chr1 | TogoVar | ||||||
DARS2_chr1_173819673_173863546 | 173825449 | CATT | C | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01255.hp2 others(22): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0002 | a0001c0001t0001g0157a0001c0001t0001g0158a0001c0001t0001g0159others(21): Show | 25 | 344 | 0.0727 | -3 | c.127 others(18): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DARS2_chr1_173819673_173863546 | 173825933 | CCTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0116a0001c0001t0002g0128others(4): Show | 8 | 344 | 0.0233 | -3 | c.127 others(18): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DARS2_chr1_173819673_173863546 | 173834732 | GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(73): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(67): Show | 76 | 344 | 0.2209 | -3 | c.663 others(18): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DARS2_chr1_173819673_173863546 | 173842284 | CTTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01081.hp1 others(19): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0030others(17): Show | 22 | 344 | 0.0640 | -3 | c.112 others(22): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DARS2_chr1_173819673_173863546 | 173844669 | CAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01943.hp1 others(16): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0092a0001c0001t0001g0097a0001c0001t0001g0111others(16): Show | 19 | 344 | 0.0552 | -3 | c.112 others(20): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DARS2_chr1_173819673_173863546 | 173849861 | CTTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01081.hp1 others(28): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0007a0001c0007t0002 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0030others(26): Show | 31 | 344 | 0.0901 | -3 | c.119 others(20): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DARS2_chr1_173819673_173863546 | 173859986 | TAGA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(87): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(81): Show | 90 | 344 | 0.2616 | -3 | c.*22 others(14): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 1441 | chr1 | TogoVar | ||||||
DARS2_chr1_173819673_173863546 | 173863354 | CATT | C | downstream_gene_variant | MODIFIER | HG00597.hp1 NA18940.hp2 NA18951.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(6): Show | 9 | 344 | 0.0262 | -3 | c.*56 others(14): Show |
DARS2 | ENSG00000117593.12 | transcript | ENST00000649689.2 | protein_coding | 4809 | chr1 | TogoVar | ||||||
DAW1_chr2_227866631_227929344 | 227869864 | AAAG | A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02572.hp1 others(8): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0308a0003c0004t0001g0309a0003c0004t0001g0310others(8): Show | 11 | 340 | 0.0324 | -3 | c.-18 others(14): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 1766 | chr2 | TogoVar | ||||||
DAW1_chr2_227866631_227929344 | 227872290 | AAAG | A | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02630.hp1 others(7): Show |
a0001a0003a0008 | a0001c0003a0003c0004a0008c0008 | a0001c0003t0001a0003c0004t0001a0008c0008t0001 | a0001c0003t0001g0306a0001c0003t0001g0307a0003c0004t0001g0305others(7): Show | 10 | 340 | 0.0294 | -3 | c.40+ others(16): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DAW1_chr2_227866631_227929344 | 227880381 | CTTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02572.hp1 others(8): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0308a0003c0004t0001g0309a0003c0004t0001g0310others(8): Show | 11 | 340 | 0.0324 | -3 | c.41- others(18): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DAW1_chr2_227866631_227929344 | 227881743 | CTTT | C | intron_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG02897.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0011 | a0001c0001t0001a0001c0003t0001a0005c0011t0001 | a0001c0001t0001g0186a0001c0001t0001g0194a0001c0001t0001g0198others(9): Show | 12 | 340 | 0.0353 | -3 | c.41- others(18): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DAW1_chr2_227866631_227929344 | 227912029 | GACA | G | intron_variant | MODIFIER | HG01243.hp2 HG02293.hp1 HG02735.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0164a0001c0003t0002g0168a0001c0003t0002g0181 | 3 | 340 | 0.0088 | -3 | c.973 others(20): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DAW1_chr2_227866631_227929344 | 227919206 | AAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(121): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0030others(116): Show | 124 | 340 | 0.3647 | -3 | c.105 others(20): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DAW1_chr2_227866631_227929344 | 227921305 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(122): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0013others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(7): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0059others(118): Show | 125 | 340 | 0.3677 | -3 | c.105 others(18): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DAW1_chr2_227866631_227929344 | 227929053 | ATTC | A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00738.hp2 others(18): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0153a0001c0003t0002g0154a0001c0003t0002g0155others(18): Show | 21 | 340 | 0.0618 | -3 | c.*50 others(14): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 4710 | chr2 | TogoVar | ||||||
DAXX_chr6_33313558_33327959 | 33320103 | GCCT | G | disruptive_inframe_deletion | MODERATE | NA18939.hp1 NA18942.hp2 NA18981.hp2 others(2): Show |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0002 | a0002c0005t0001g0043a0002c0005t0002g0014 | 5 | 375 | 0.0133 | -3 | c.137 others(12): Show |
p.Glu others(6): Show |
DAXX | ENSG00000204209.13 | transcript | ENST00000374542.10 | protein_coding | 5/8 | 1522/2558 | 1370/2223 | 457/740 | chr6 | TogoVar | ||
DAXX_chr6_33313558_33327959 | 33324361 | TCTC | T | upstream_gene_variant | MODIFIER | HG02922.hp1 HG02965.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 3 | 375 | 0.0080 | -3 | c.-15 others(14): Show |
DAXX | ENSG00000204209.13 | transcript | ENST00000374542.10 | protein_coding | 1403 | chr6 | TogoVar | ||||||
DAZ1_chrY_23124355_23204008 | 23147344 | GACC | G | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 63 | 0.0159 | -3 | c.199 others(22): Show |
DAZ1 | ENSG00000188120.16 | transcript | ENST00000405239.6 | protein_coding | 23/27 | chrY | TogoVar | ||||||
DAZ1_chrY_23124355_23204008 | 23162639 | AAAG | A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 63 | 0.0159 | -3 | c.163 others(20): Show |
DAZ1 | ENSG00000188120.16 | transcript | ENST00000405239.6 | protein_coding | 18/27 | chrY | TogoVar | ||||||
DAZ1_chrY_23124355_23204008 | 23176864 | CTTT | C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 63 | 0.0159 | -3 | c.993 others(20): Show |
DAZ1 | ENSG00000188120.16 | transcript | ENST00000405239.6 | protein_coding | 11/27 | chrY | TogoVar |