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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARX_chrX_24998694_25020965 | 25001911 | A | AACAC | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0063a0001c0001t0002g0007a0001c0001t0002g0009others(3): Show | 11 | 300 | 0.0367 | 4 | c.*27 others(15): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 1782 | chrX | TogoVar | ||||||
ARX_chrX_24998694_25020965 | 25015353 | C | CAGGG | intron_variant | MODIFIER | NA18946.hp2 NA18957.hp1 NA19060.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0034a0001c0001t0001g0035 | 5 | 300 | 0.0167 | 4 | c.196 others(19): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 1/4 | chrX | TogoVar | ||||||
ARX_chrX_24998694_25020965 | 25018639 | T | TTATA | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01361.hp1 HG01496.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(13): Show | 30 | 300 | 0.1000 | 4 | c.-29 others(15): Show |
ARX | ENSG00000004848.8 | transcript | ENST00000379044.5 | protein_coding | 2675 | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67551001 | G | GTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp1 others(34): Show |
a0006a0008a0010others(17): Show | a0006c0015a0008c0005a0010c0079others(17): Show | a0006c0015t0007a0008c0005t0003a0008c0005t0006others(29): Show | a0006c0015t0007g0139a0006c0015t0007g0140a0006c0015t0007g0142others(34): Show | 37 | 193 | 0.1917 | 4 | c.161 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67562356 | A | ATGTG | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG02723.hp1 others(5): Show |
a0009a0017a0018others(3): Show | a0009c0025a0017c0017a0018c0066others(3): Show | a0009c0025t0004a0017c0017t0019a0017c0017t0035others(4): Show | a0009c0025t0004g0150a0009c0025t0004g0164a0017c0017t0019g0160others(5): Show | 8 | 193 | 0.0415 | 4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67597089 | G | GTTTC | intron_variant | MODIFIER | NA18940.hp1 NA19006.hp1 NA19056.hp1 |
a0010a0032a0033 | a0010c0014a0032c0031a0033c0032 | a0010c0014t0013a0032c0031t0013a0033c0032t0013 | a0010c0014t0013g0085a0032c0031t0013g0105a0033c0032t0013g0062 | 3 | 193 | 0.0155 | 4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67604198 | A | ATGTG | intron_variant | MODIFIER | HG01074.hp1 HG01258.hp1 HG02083.hp1 others(12): Show |
a0002a0003a0005others(7): Show | a0002c0002a0003c0004a0005c0067others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0014others(11): Show | a0002c0002t0001g0057a0002c0002t0003g0032a0002c0002t0014g0027others(12): Show | 15 | 193 | 0.0777 | 4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67624904 | C | CAAAA | intron_variant | MODIFIER | HG03516.hp1 | a0026 | a0026c0047 | a0026c0047t0007 | a0026c0047t0007g0155 | 1 | 193 | 0.0052 | 4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67626610 | T | TTATA | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG02055.hp1 others(12): Show |
a0009a0010a0012others(9): Show | a0009c0013a0010c0078a0012c0011others(9): Show | a0009c0013t0018a0009c0013t0020a0010c0078t0006others(10): Show | a0009c0013t0018g0177a0009c0013t0020g0173a0009c0013t0020g0174others(12): Show | 15 | 193 | 0.0777 | 4 | c.161 others(25): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67695738 | A | AACAC | intron_variant | MODIFIER | HG03491.hp2 HG03710.hp1 HG04204.hp1 others(6): Show |
a0001a0002a0006others(5): Show | a0001c0001a0002c0002a0006c0016others(5): Show | a0001c0001t0064a0002c0002t0012a0006c0016t0003others(6): Show | a0001c0001t0064g0013a0002c0002t0012g0190a0006c0016t0003g0050others(6): Show | 9 | 193 | 0.0466 | 4 | c.188 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67701674 | T | TCACA | intron_variant | MODIFIER | HG00099.hp2 HG02818.hp1 |
a0008a0024 | a0008c0005a0024c0023 | a0008c0005t0033a0024c0023t0001 | a0008c0005t0033g0148a0024c0023t0001g0187 | 2 | 193 | 0.0104 | 4 | c.188 others(23): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67720879 | T | TACAC | intron_variant | MODIFIER | HG02886.hp2 HG03130.hp1 |
a0003a0009 | a0003c0004a0009c0013 | a0003c0004t0036a0009c0013t0004 | a0003c0004t0036g0170a0009c0013t0004g0184 | 2 | 193 | 0.0104 | 4 | c.231 others(21): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67723312 | C | CTCTG | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG02717.hp1 others(11): Show |
a0001a0005a0006others(10): Show | a0001c0001a0005c0067a0006c0016others(10): Show | a0001c0001t0003a0005c0067t0015a0006c0016t0003others(10): Show | a0001c0001t0003g0083a0005c0067t0015g0014a0006c0016t0003g0050others(11): Show | 14 | 193 | 0.0725 | 4 | c.260 others(21): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67723312 | C | CTGTG | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG02451.hp1 others(6): Show |
a0001a0002a0006others(5): Show | a0001c0001a0002c0002a0006c0016others(5): Show | a0001c0001t0002a0002c0002t0009a0006c0016t0031others(6): Show | a0001c0001t0002g0026a0002c0002t0009g0029a0006c0016t0031g0007others(6): Show | 9 | 193 | 0.0466 | 4 | c.260 others(21): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67723353 | T | TGTCA | intron_variant | MODIFIER | NA18989.hp1 | a0012 | a0012c0052 | a0012c0052t0003 | a0012c0052t0003g0071 | 1 | 193 | 0.0052 | 4 | c.260 others(21): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | chrX | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67728574 | A | AATAT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(52): Show |
a0001a0002a0003others(28): Show | a0001c0001a0002c0002a0003c0004others(30): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(33): Show | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0064others(52): Show | 55 | 193 | 0.2850 | 4 | c.*47 others(15): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4775 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
AR_chrX_67539021_67735619 | 67728609 | A | ATATG | 3_prime_UTR_variant | MODIFIER | HG02015.hp1 | a0014 | a0014c0009 | a0014c0009t0061 | a0014c0009t0061g0047 | 1 | 193 | 0.0052 | 4 | c.*47 others(15): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4772 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
AS3MT_chr10_102864470_102906899 | 102871546 | C | CAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01123.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0001g0180a0001c0001t0001g0183a0001c0001t0001g0185others(19): Show | 22 | 362 | 0.0608 | 4 | c.171 others(19): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102886287 | T | TCCTC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01167.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0196a0001c0001t0001g0217a0001c0001t0001g0229others(6): Show | 9 | 362 | 0.0249 | 4 | c.886 others(21): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102889614 | G | GCCTT | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(123): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0086others(121): Show | 126 | 362 | 0.3481 | 4 | c.886 others(19): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AS3MT_chr10_102864470_102906899 | 102892985 | A | AAAAT | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00642.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(6): Show | a0001c0001t0001g0013a0001c0001t0001g0178a0001c0001t0001g0179others(39): Show | 43 | 362 | 0.1188 | 4 | c.102 others(23): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH1_chr8_18050992_18089107 | 18065882 | T | TTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(65): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(8): Show | a0001c0001t0002g0195a0001c0001t0002g0201a0001c0001t0004g0029others(42): Show | 68 | 420 | 0.1619 | 4 | c.382 others(21): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/13 | chr8 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50739175 | C | CATTG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(140): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(53): Show | 143 | 414 | 0.3454 | 4 | c.-90 others(13): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 760 | chr10 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50743958 | A | ATTAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(329): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(124): Show | 332 | 414 | 0.8019 | 4 | c.-4+ others(17): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH2B_chr10_50734936_50764255 | 50749919 | G | GGTGT | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0054a0001c0001t0058others(2): Show | a0001c0001t0027g0059a0001c0001t0027g0060a0001c0001t0054g0062others(3): Show | 6 | 414 | 0.0145 | 4 | c.204 others(19): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH2B_chr10_50734936_50764255 | 50754166 | C | CACAT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(109): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0094a0001c0001t0002g0002a0001c0001t0002g0043others(36): Show | 112 | 414 | 0.2705 | 4 | c.294 others(19): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH2B_chr10_50734936_50764255 | 50754891 | G | GGTGT | 3_prime_UTR_variant | MODIFIER | HG02630.hp1 HG02895.hp1 HG02922.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0033a0002c0002t0070a0002c0002t0071 | a0002c0002t0033g0009a0002c0002t0070g0009a0002c0002t0071g0005 | 4 | 414 | 0.0097 | 4 | c.*19 others(13): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 198 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ASAH2B_chr10_50734936_50764255 | 50754941 | T | TGAGA | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG02886.hp2 HG03516.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0040a0001c0001t0047a0002c0002t0024 | a0001c0001t0040g0079a0001c0001t0047g0081a0002c0002t0024g0005 | 4 | 414 | 0.0097 | 4 | c.*22 others(13): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 225 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ASAH2_chr10_50179861_50256516 | 50187084 | C | CCTCT | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01496.hp2 others(12): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0051a0001c0002t0053a0001c0002t0071others(7): Show | a0001c0002t0051g0112a0001c0002t0053g0078a0001c0002t0071g0269others(12): Show | 15 | 408 | 0.0368 | 4 | c.*22 others(13): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 230 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50187118 | T | TCACA | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(25): Show |
a0001a0002 | a0001c0005a0002c0001a0002c0006 | a0001c0005t0055a0002c0001t0002a0002c0001t0108others(1): Show | a0001c0005t0055g0218a0001c0005t0055g0220a0002c0001t0002g0005others(22): Show | 28 | 408 | 0.0686 | 4 | c.*19 others(13): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 196 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50187118 | T | TCTCA | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02965.hp1 HG03041.hp1 others(4): Show |
a0001a0002a0009 | a0001c0002a0001c0005a0002c0001others(1): Show | a0001c0002t0019a0001c0005t0019a0002c0001t0105others(1): Show | a0001c0002t0019g0349a0001c0005t0019g0026a0001c0005t0019g0205others(3): Show | 7 | 408 | 0.0172 | 4 | c.*19 others(13): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 196 | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50187885 | A | ATATG | intron_variant | MODIFIER | HG01981.hp2 HG02976.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0005a0001c0010a0001c0015 | a0001c0005t0117a0001c0010t0087a0001c0010t0102others(1): Show | a0001c0005t0117g0266a0001c0010t0087g0050a0001c0010t0102g0362others(1): Show | 4 | 408 | 0.0098 | 4 | c.215 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 20/20 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50192133 | T | TACAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0004a0001c0005others(19): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(136): Show | a0001c0002t0001g0012a0001c0002t0001g0083a0001c0002t0001g0095others(330): Show | 373 | 408 | 0.9142 | 4 | c.206 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 19/20 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50206537 | T | TACAC | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(81): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0005others(5): Show | a0001c0002t0006a0001c0002t0009a0001c0002t0025others(34): Show | a0001c0002t0006g0079a0001c0002t0009g0347a0001c0002t0025g0346others(70): Show | 84 | 408 | 0.2059 | 4 | c.141 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 12/20 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50212182 | A | AACAC | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG00741.hp1 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0011others(4): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0028others(21): Show | a0001c0002t0001g0095a0001c0002t0013g0071a0001c0002t0028g0006others(35): Show | 42 | 408 | 0.1029 | 4 | c.122 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 10/20 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50221627 | T | TTGTG | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01891.hp1 others(20): Show |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0003 | a0001c0004t0012a0002c0001t0007a0002c0001t0021others(3): Show | a0001c0004t0012g0001a0001c0004t0012g0299a0002c0001t0007g0003others(12): Show | 23 | 408 | 0.0564 | 4 | c.894 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50221698 | G | GGATA | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00738.hp1 others(28): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0001 | a0001c0002t0028a0001c0002t0049a0001c0005t0052others(13): Show | a0001c0002t0028g0006a0001c0002t0028g0303a0001c0002t0049g0031others(23): Show | 31 | 408 | 0.0760 | 4 | c.894 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50239828 | A | ATTTT | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG01081.hp2 others(6): Show |
a0001a0002a0003 | a0001c0010a0002c0001a0003c0003 | a0001c0010t0069a0002c0001t0018a0002c0001t0030others(5): Show | a0001c0010t0069g0200a0002c0001t0018g0194a0002c0001t0030g0193others(6): Show | 9 | 408 | 0.0221 | 4 | c.510 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50242630 | A | ATCTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0001a0002c0022others(2): Show | a0001c0005t0011a0002c0001t0002a0002c0001t0004others(30): Show | a0001c0005t0011g0180a0002c0001t0002g0024a0002c0001t0002g0182others(90): Show | 102 | 408 | 0.2500 | 4 | c.510 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130048368 | A | ATGAG | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005a0001c0001t0009g0006a0001c0001t0009g0007others(1): Show | 4 | 308 | 0.0130 | 4 | c.*63 others(15): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3735 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130064893 | A | ATGTG | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01261.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(8): Show | a0001c0001t0001g0012a0001c0001t0001g0034a0001c0001t0001g0035others(37): Show | 40 | 308 | 0.1299 | 4 | c.270 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130066621 | T | TTTCA | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01256.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0021a0002c0002t0001others(4): Show | a0001c0001t0001g0034a0001c0001t0001g0091a0001c0001t0021g0263others(16): Show | 19 | 308 | 0.0617 | 4 | c.270 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130070888 | A | AGAGG | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0014a0001c0005t0007others(1): Show | a0001c0001t0001g0016a0001c0001t0014g0153a0001c0005t0007g0002others(2): Show | 5 | 308 | 0.0162 | 4 | c.270 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130070900 | G | GGAGA | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp2 HG02055.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0034others(22): Show | 25 | 308 | 0.0812 | 4 | c.270 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130071011 | G | GGAGA | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00621.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0002g0181a0001c0001t0002g0213a0002c0002t0001g0061others(39): Show | 42 | 308 | 0.1364 | 4 | c.270 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130072820 | T | TGCGC | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0278a0001c0001t0001g0280a0001c0001t0001g0281others(1): Show | 4 | 308 | 0.0130 | 4 | c.270 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130074440 | A | AACAC | intron_variant | MODIFIER | HG00642.hp1 HG01978.hp1 HG02280.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0025a0002c0002t0001others(2): Show | a0001c0001t0007g0004a0001c0001t0025g0279a0002c0002t0001g0009others(9): Show | 12 | 308 | 0.0390 | 4 | c.270 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130074486 | C | CACAG | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(6): Show | a0001c0001t0001g0056a0001c0001t0001g0097a0001c0001t0001g0108others(50): Show | 53 | 308 | 0.1721 | 4 | c.270 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130074486 | C | CAGAG | intron_variant | MODIFIER | HG01934.hp1 HG01993.hp2 HG03831.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0151a0001c0004t0002g0157a0001c0004t0002g0189 | 3 | 308 | 0.0097 | 4 | c.270 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130085735 | T | TAAAA | intron_variant | MODIFIER | HG00673.hp1 HG01175.hp2 HG01361.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0003 | a0001c0001t0009g0005a0001c0001t0009g0006a0001c0001t0009g0007others(5): Show | 8 | 308 | 0.0260 | 4 | c.257 others(23): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 25/29 | chr8 | TogoVar |