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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AASDH_chr4_56333290_56392491 | 56338310 | C | CTTCT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(76): Show |
a0003a0008a0018 | a0003c0003a0008c0011a0018c0023 | a0003c0003t0002a0008c0011t0002a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(68): Show | 79 | 382 | 0.2068 | 4 | c.*88 others(11): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 15/15 | 91 | chr4 | TogoVar | |||||
AASDH_chr4_56333290_56392491 | 56339748 | C | CAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01069.hp2 others(37): Show |
a0001a0005 | a0001c0005a0005c0007 | a0001c0005t0001a0001c0005t0005a0005c0007t0003 | a0001c0005t0001g0011a0001c0005t0001g0032a0001c0005t0001g0050others(35): Show | 40 | 382 | 0.1047 | 4 | c.290 others(21): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56340077 | G | GAGAA | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG03195.hp1 |
a0006 | a0006c0009 | a0006c0009t0004 | a0006c0009t0004g0029a0006c0009t0004g0331 | 3 | 382 | 0.0079 | 4 | c.290 others(23): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56386799 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(54): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0005a0001c0010others(3): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0283a0001c0005t0001g0242a0001c0010t0001g0280others(49): Show | 57 | 382 | 0.1492 | 4 | c.-43 others(19): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122069290 | G | GATTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(86): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0013others(70): Show | 89 | 384 | 0.2318 | 4 | c.*71 others(15): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 4258 | chr7 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001395 | A | AGGAG | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01071.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0069a0001c0001t0001g0161a0001c0001t0001g0171others(22): Show | 25 | 245 | 0.1020 | 4 | c.139 others(25): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37001405 | G | GAGGA | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01175.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0055a0001c0001t0001g0118a0001c0001t0001g0120others(20): Show | 23 | 245 | 0.0939 | 4 | c.139 others(25): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37009823 | C | CAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02109.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0033others(6): Show | 9 | 245 | 0.0367 | 4 | c.139 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37022113 | C | CGTGT | intron_variant | MODIFIER | HG01109.hp1 HG02027.hp2 HG02559.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0001others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0041others(10): Show | 13 | 245 | 0.0531 | 4 | c.154 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37046730 | A | AACAC | intron_variant | MODIFIER | HG00099.hp1 HG01346.hp1 HG01346.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0049a0001c0001t0001g0200others(6): Show | 10 | 245 | 0.0408 | 4 | c.162 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37051693 | G | GACAC | intron_variant | MODIFIER | HG00735.hp1 HG01361.hp1 HG01884.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0105a0001c0001t0002g0107others(3): Show | 6 | 245 | 0.0245 | 4 | c.162 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37051697 | G | GACAC | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01884.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0022others(14): Show | 17 | 245 | 0.0694 | 4 | c.162 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATK_chr17_81112295_81171221 | 81119207 | C | CGGGA | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG01071.hp1 others(45): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0011a0003c0003others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(13): Show | a0001c0001t0001g0019a0001c0001t0001g0076a0001c0001t0001g0098others(41): Show | 48 | 368 | 0.1304 | 4 | c.408 others(21): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81137920 | G | GCACA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0011others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(78): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(293): Show | 314 | 368 | 0.8533 | 4 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81138455 | G | GCACA | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(17): Show |
a0003a0006a0007others(6): Show | a0003c0003a0003c0007a0003c0020others(11): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(12): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(15): Show | 20 | 368 | 0.0544 | 4 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81141917 | C | CTCCT | intron_variant | MODIFIER | HG00735.hp2 HG01255.hp2 HG01496.hp1 others(2): Show |
a0003a0005a0007others(1): Show | a0003c0009a0005c0006a0007c0008others(1): Show | a0003c0009t0001a0005c0006t0003a0007c0008t0001others(1): Show | a0003c0009t0001g0248a0003c0009t0001g0257a0005c0006t0003g0301others(2): Show | 5 | 368 | 0.0136 | 4 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81142199 | T | TCCAC | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01069.hp1 others(5): Show |
a0003a0005a0007 | a0003c0003a0003c0007a0003c0020others(2): Show | a0003c0003t0002a0003c0007t0001a0003c0020t0001others(2): Show | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(3): Show | 8 | 368 | 0.0217 | 4 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81146188 | T | TAAAA | intron_variant | MODIFIER | HG00735.hp2 HG02004.hp2 HG02027.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0002others(6): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0255a0001c0001t0001g0283a0001c0001t0001g0284others(15): Show | 20 | 368 | 0.0544 | 4 | c.56- others(21): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81166503 | C | CGGGG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(49): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0011others(13): Show | a0001c0001t0001a0001c0004t0001a0001c0011t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0019a0001c0001t0001g0030others(46): Show | 52 | 368 | 0.1413 | 4 | c.-51 others(13): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 283 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81169745 | C | CGTAT | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01081.hp1 others(31): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0007others(10): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0022others(13): Show | a0001c0001t0001g0123a0001c0001t0001g0138a0001c0001t0001g0139others(27): Show | 34 | 368 | 0.0924 | 4 | c.-37 others(15): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3525 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8673396 | C | CTGTG | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00673.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0011a0001c0001t0001g0058a0001c0001t0001g0246others(49): Show | 52 | 362 | 0.1437 | 4 | c.-13 others(15): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1220 | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8682186 | T | TACAC | intron_variant | MODIFIER | HG01258.hp1 HG01891.hp1 HG01943.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0005a0001c0003t0001others(11): Show | a0001c0001t0003g0029a0001c0001t0005g0232a0001c0001t0005g0299others(14): Show | 17 | 362 | 0.0470 | 4 | c.-42 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8683868 | C | CATTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(216): Show | 219 | 362 | 0.6050 | 4 | c.-42 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8707353 | A | ATTTT | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00735.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0163a0001c0001t0002g0067a0001c0001t0002g0078others(13): Show | 16 | 362 | 0.0442 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8709350 | T | TTTTA | intron_variant | MODIFIER | HG01993.hp2 HG02004.hp1 HG02148.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0003others(3): Show | a0001c0001t0001g0287a0001c0001t0005g0299a0001c0003t0003g0300others(5): Show | 8 | 362 | 0.0221 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8710683 | T | TGAGA | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 NA19240.hp1 |
a0002a0003 | a0002c0002a0002c0007a0003c0010 | a0002c0002t0020a0002c0007t0007a0003c0010t0001 | a0002c0002t0020g0242a0002c0007t0007g0247a0003c0010t0001g0245 | 3 | 362 | 0.0083 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8710694 | C | CAGAG | intron_variant | MODIFIER | HG01993.hp2 HG02004.hp1 HG02040.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0287a0001c0001t0004g0109a0001c0001t0005g0299others(10): Show | 13 | 362 | 0.0359 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8710717 | A | AGAGG | intron_variant | MODIFIER | HG02451.hp2 HG02698.hp2 HG02896.hp2 others(5): Show |
a0001a0002 | a0001c0003a0002c0004a0002c0006others(1): Show | a0001c0003t0003a0002c0004t0001a0002c0006t0005others(2): Show | a0001c0003t0003g0350a0001c0003t0003g0355a0002c0004t0001g0128others(5): Show | 8 | 362 | 0.0221 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8711786 | A | AGATG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(32): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0024a0001c0001t0001g0293a0001c0001t0001g0318others(32): Show | 35 | 362 | 0.0967 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8711810 | G | GGATA | intron_variant | MODIFIER | HG01192.hp2 HG01257.hp1 HG02027.hp2 others(20): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0099a0001c0001t0001g0108a0001c0001t0001g0227others(20): Show | 23 | 362 | 0.0635 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8724915 | T | TTTTC | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00673.hp2 others(48): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0023others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0038a0001c0001t0001g0099a0001c0001t0001g0108others(48): Show | 51 | 362 | 0.1409 | 4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8737484 | A | AAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0011others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(88): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(316): Show | 319 | 362 | 0.8812 | 4 | c.70+ others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8738616 | G | GTTTT | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00735.hp2 others(23): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004others(1): Show | a0001c0003t0003a0002c0002t0001a0002c0002t0002others(10): Show | a0001c0003t0003g0083a0002c0002t0001g0140a0002c0002t0001g0170others(23): Show | 26 | 362 | 0.0718 | 4 | c.70+ others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8738627 | T | TTTTG | intron_variant | MODIFIER | HG00673.hp2 HG02132.hp1 HG02132.hp2 others(1): Show |
a0002 | a0002c0002a0002c0004a0002c0006 | a0002c0002t0002a0002c0004t0001a0002c0004t0003others(1): Show | a0002c0002t0002g0073a0002c0004t0001g0066a0002c0004t0003g0172others(1): Show | 4 | 362 | 0.0111 | 4 | c.70+ others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743007 | T | TAAAA | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01169.hp2 others(33): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0013others(4): Show | a0001c0001t0004a0001c0003t0003a0001c0003t0004others(14): Show | a0001c0001t0004g0273a0001c0003t0003g0359a0001c0003t0004g0290others(33): Show | 36 | 362 | 0.0995 | 4 | c.71- others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743318 | C | CTGTG | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 NA18946.hp2 others(1): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0017others(1): Show | a0002c0002t0001g0144a0002c0002t0002g0184a0002c0002t0017g0055others(1): Show | 4 | 362 | 0.0111 | 4 | c.71- others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743444 | T | TATAC | intron_variant | MODIFIER | HG02155.hp1 NA19006.hp1 NA19006.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0361a0001c0001t0003g0039a0001c0003t0003g0088others(1): Show | 4 | 362 | 0.0111 | 4 | c.71- others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8749386 | C | CTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00621.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0081others(60): Show | 63 | 362 | 0.1740 | 4 | c.199 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8754662 | A | ATTTC | intron_variant | MODIFIER | HG02965.hp2 HG03098.hp2 HG03486.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006a0002c0002t0019others(1): Show | a0002c0002t0003g0241a0002c0002t0006g0353a0002c0002t0019g0002others(1): Show | 4 | 362 | 0.0111 | 4 | c.317 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8757169 | T | TTTTA | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00621.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0003others(22): Show | a0001c0001t0002g0151a0001c0001t0002g0354a0001c0001t0003g0071others(63): Show | 66 | 362 | 0.1823 | 4 | c.317 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8764843 | G | GCACA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(3): Show | a0001c0001t0002a0001c0003t0001a0001c0021t0001others(8): Show | a0001c0001t0002g0050a0001c0003t0001g0252a0001c0021t0001g0111others(13): Show | 16 | 362 | 0.0442 | 4 | c.540 others(17): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8773105 | T | TACAC | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01081.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0121a0001c0001t0001g0156a0001c0001t0001g0191others(26): Show | 29 | 362 | 0.0801 | 4 | c.954 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8775565 | T | TACAC | intron_variant | MODIFIER | HG02486.hp1 HG03041.hp1 HG03195.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0239a0002c0002t0001g0010a0002c0002t0001g0271others(2): Show | 5 | 362 | 0.0138 | 4 | c.112 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8777955 | A | AAAAG | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01496.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0011a0001c0001t0001g0246a0001c0001t0003g0042others(22): Show | 25 | 362 | 0.0691 | 4 | c.126 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCA10_chr17_69143007_69233824 | 69143833 | G | GTAGA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(113): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0034a0002c0002others(15): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(24): Show | a0001c0001t0002g0012a0001c0001t0002g0026a0001c0001t0002g0030others(112): Show | 116 | 348 | 0.3333 | 4 | c.*49 others(15): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 4173 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69144765 | T | TTTTC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(236): Show |
a0002a0003a0004others(16): Show | a0002c0002a0002c0015a0003c0003others(25): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(33): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(231): Show | 239 | 348 | 0.6868 | 4 | c.*40 others(15): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 3241 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69152802 | G | GTAAA | intron_variant | MODIFIER | HG01884.hp1 HG03041.hp2 NA19043.hp2 |
a0001a0003a0006 | a0001c0001a0003c0028a0006c0007 | a0001c0001t0002a0003c0028t0006a0006c0007t0010 | a0001c0001t0002g0177a0003c0028t0006g0248a0006c0007t0010g0341 | 3 | 348 | 0.0086 | 4 | c.413 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 34/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69184916 | T | TACAC | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00733.hp2 others(40): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0003c0025others(5): Show | a0001c0001t0002a0003c0003t0001a0003c0025t0001others(7): Show | a0001c0001t0002g0301a0003c0003t0001g0201a0003c0025t0001g0042others(38): Show | 43 | 348 | 0.1236 | 4 | c.249 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69192312 | A | AAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(235): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(32): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(230): Show | 238 | 348 | 0.6839 | 4 | c.187 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 16/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69208417 | C | CAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG02451.hp2 others(6): Show |
a0007a0008a0013others(1): Show | a0007c0008a0008c0009a0013c0020others(1): Show | a0007c0008t0007a0008c0009t0009a0013c0020t0006others(1): Show | a0007c0008t0007g0335a0007c0008t0007g0337a0007c0008t0007g0338others(5): Show | 9 | 348 | 0.0259 | 4 | c.100 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar |