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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRG1_chr4_46030769_46129054 | 46056150 | TTAAAAAA | T | intron_variant | MODIFIER | HG00558.hp1 HG02083.hp2 NA18950.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0200a0001c0001t0001g0201others(2): Show | 5 | 308 | 0.0162 | -7 | c.916 others(24): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 7/8 | chr4 | TogoVar | ||||||
GABRG2_chr5_162062773_162160526 | 162078388 | TATATATA | T | intron_variant | MODIFIER | NA18979.hp2 NA18993.hp2 NA19003.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0031a0001c0001t0002g0032others(1): Show | 5 | 328 | 0.0152 | -7 | c.107 others(26): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
GABRG2_chr5_162062773_162160526 | 162096598 | TGAACAAG | T | intron_variant | MODIFIER | HG02258.hp2 HG02965.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0309a0001c0001t0004g0310a0001c0001t0004g0311 | 3 | 328 | 0.0092 | -7 | c.327 others(24): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27194941 | GTTTATTA | G | intron_variant | MODIFIER | HG01099.hp1 HG03139.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0003a0001c0004a0001c0016 | a0001c0003t0001a0001c0004t0010a0001c0004t0011others(1): Show | a0001c0003t0001g0065a0001c0004t0010g0075a0001c0004t0011g0078others(1): Show | 4 | 92 | 0.0435 | -7 | c.271 others(28): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27369806 | CAAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01884.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0006a0001c0003t0001others(6): Show | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0002t0006g0052others(8): Show | 11 | 92 | 0.1196 | -7 | c.574 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27388225 | GAAAGGGA | G | intron_variant | MODIFIER | HG03516.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006 | a0001c0001t0001g0038a0001c0003t0006g0034 | 2 | 92 | 0.0217 | -7 | c.574 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27390525 | ACAGGGCT | A | intron_variant | MODIFIER | HG02258.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0022 | a0001c0001t0001g0073a0001c0003t0022g0058 | 2 | 92 | 0.0217 | -7 | c.574 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27509355 | CTGATATT | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00738.hp2 others(61): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(36): Show | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0026others(61): Show | 64 | 92 | 0.6957 | -7 | c.713 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRR2_chr6_89249464_89320299 | 89292708 | TATATATC | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(66): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0051a0001c0001t0001g0097others(66): Show | 69 | 366 | 0.1885 | -7 | c.220 others(24): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89306842 | GAAGGAAA | G | intron_variant | MODIFIER | HG01081.hp2 HG02145.hp1 HG02451.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0028a0001c0002t0003a0001c0005t0002others(4): Show | a0001c0001t0028g0187a0001c0002t0003g0293a0001c0005t0002g0189others(5): Show | 8 | 366 | 0.0219 | -7 | c.114 others(24): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
GAD2_chr10_26211774_26309558 | 26245163 | AAAAAAAG | A | intron_variant | MODIFIER | HG01346.hp2 HG02293.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0275a0001c0001t0002g0276a0001c0001t0002g0277others(5): Show | 8 | 294 | 0.0272 | -7 | c.841 others(22): Show |
GAD2 | ENSG00000136750.13 | transcript | ENST00000376261.8 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GADD45B_chr19_2471127_2483257 | 2480593 | AAACAAAC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(215): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(22): Show | 218 | 460 | 0.4739 | -7 | c.*29 others(18): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2337 | chr19 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30768553 | GAGAGAGA | G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG02004.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0131a0001c0001t0002g0020a0001c0001t0002g0055others(15): Show | 18 | 282 | 0.0638 | -7 | c.139 others(26): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30770813 | CAAGAGAA | C | intron_variant | MODIFIER | HG01255.hp2 HG02486.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0199a0001c0001t0004g0200a0001c0001t0014g0015 | 3 | 282 | 0.0106 | -7 | c.139 others(26): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30778163 | TTTACTTA | T | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp2 HG02040.hp1 others(36): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0043a0001c0001t0001g0068a0001c0001t0001g0182others(36): Show | 39 | 282 | 0.1383 | -7 | c.139 others(21): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30785818 | CATTAAAT | C | intron_variant | MODIFIER | HG01167.hp1 HG02258.hp2 HG02280.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0104a0001c0001t0001g0174a0001c0001t0001g0198others(16): Show | 19 | 282 | 0.0674 | -7 | c.130 others(24): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30816530 | CTTTTTTT | C | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp2 HG01361.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0025others(8): Show | 11 | 282 | 0.0390 | -7 | c.105 others(28): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
GAGE12E_chrX_49546289_49563645 | 49550873 | CGTTTTAG | C | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0014 | 1 | 100 | 0.0100 | -7 | c.-53 others(16): Show |
GAGE12E | ENSG00000216649.5 | transcript | ENST00000381698.5 | protein_coding | 415 | chrX | TogoVar | ||||||
GAGE12F_chrX_49555842_49573205 | 49567757 | GAAGTTGA | G | intron_variant | MODIFIER | NA18978.hp2 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0088 | 1 | 99 | 0.0101 | -7 | c.332 others(22): Show |
GAGE12F | ENSG00000236362.9 | transcript | ENST00000440137.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE12H_chrX_49574949_49592301 | 49586017 | TTTATTTA | T | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 116 | 0.0086 | -7 | c.332 others(24): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAK_chr4_844277_937316 | 897016 | AGAGCCTC | A | intron_variant | MODIFIER | HG02135.hp1 HG03704.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0350a0001c0001t0001g0352a0001c0001t0007g0351 | 3 | 390 | 0.0077 | -7 | c.652 others(22): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 6/27 | chr4 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49171082 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02273.hp2 others(28): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0011a0001c0002t0052others(1): Show | a0001c0002t0004g0170a0001c0002t0004g0171a0001c0002t0004g0172others(28): Show | 31 | 348 | 0.0891 | -7 | c.53+ others(20): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49249041 | TAAGTTAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00609.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0003others(1): Show | a0001c0001t0002g0148a0001c0001t0009g0147a0001c0002t0003g0133others(29): Show | 32 | 348 | 0.0920 | -7 | c.504 others(24): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49326255 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG01243.hp2 HG01496.hp1 others(36): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0011a0001c0002t0017others(6): Show | a0001c0002t0004g0170a0001c0002t0004g0171a0001c0002t0004g0172others(35): Show | 39 | 348 | 0.1121 | -7 | c.117 others(26): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38685708 | ATTTTTAT | A | intron_variant | MODIFIER | HG00408.hp2 HG01071.hp2 HG01261.hp1 others(74): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(15): Show | a0001c0001t0001g0272a0002c0002t0001g0186a0002c0002t0001g0201others(74): Show | 77 | 328 | 0.2348 | -7 | c.553 others(24): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNS_chr16_88808734_88861947 | 88821172 | TCCAGAGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(159): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0011a0001c0018others(14): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(20): Show | a0001c0002t0001g0030a0001c0002t0001g0070a0001c0002t0001g0102others(158): Show | 162 | 404 | 0.4010 | -7 | c.136 others(26): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 12/13 | chr16 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154256346 | TGTTTTTG | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01257.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0188a0001c0001t0002g0075a0001c0001t0002g0081others(40): Show | 43 | 236 | 0.1822 | -7 | c.160 others(26): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154290258 | ATTTTTTT | A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0004others(7): Show | a0001c0001t0003g0032a0001c0002t0001g0231a0001c0002t0001g0232others(9): Show | 12 | 236 | 0.0509 | -7 | c.160 others(24): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT10_chr5_154185733_154425984 | 154327216 | AAAAAAAT | A | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0004a0001c0014 | a0001c0004t0008a0001c0004t0009a0001c0004t0038others(1): Show | a0001c0004t0008g0064a0001c0004t0009g0025a0001c0004t0038g0063others(1): Show | 4 | 236 | 0.0170 | -7 | c.402 others(24): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT11_chr7_152020674_152127340 | 152039614 | ACAGTTGG | A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01243.hp1 others(19): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0003 | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0014others(18): Show | 22 | 284 | 0.0775 | -7 | c.-39 others(26): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 153899931 | ATATATTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01074.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0013others(15): Show | a0001c0001t0006g0110a0001c0001t0006g0111a0001c0001t0012g0154others(30): Show | 33 | 214 | 0.1542 | -7 | c.-17 others(25): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154043415 | TATATATA | T | intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0064a0001c0001t0022g0065a0001c0001t0022g0066 | 3 | 214 | 0.0140 | -7 | c.143 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154044072 | AAAAAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0002g0106others(32): Show | 35 | 214 | 0.1636 | -7 | c.143 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154078635 | TTTACATA | T | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0019a0001c0001t0021others(6): Show | a0001c0001t0006g0109a0001c0001t0019g0074a0001c0001t0019g0076others(9): Show | 12 | 214 | 0.0561 | -7 | c.143 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154282641 | ACAGAATG | A | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0002g0146a0001c0001t0005g0101a0001c0001t0009g0126others(2): Show | 5 | 214 | 0.0234 | -7 | c.976 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154351682 | CAAAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG02451.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0002g0129a0001c0001t0006g0137a0001c0001t0007g0207others(9): Show | 12 | 214 | 0.0561 | -7 | c.115 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154449426 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01099.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0052others(2): Show | a0001c0001t0003g0025a0001c0001t0003g0028a0001c0001t0003g0029others(4): Show | 7 | 214 | 0.0327 | -7 | c.153 others(24): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT14_chr2_30905467_31143440 | 31046622 | GGAAACTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00558.hp2 others(93): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(93): Show | 96 | 226 | 0.4248 | -7 | c.130 others(26): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31048545 | AATAAGAC | A | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG02145.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0002t0003a0003c0007t0001 | a0001c0001t0001g0021a0001c0001t0001g0117a0001c0001t0001g0123others(3): Show | 6 | 226 | 0.0266 | -7 | c.130 others(26): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31124925 | GCCACAAA | G | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG01256.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0021others(16): Show | 19 | 226 | 0.0841 | -7 | c.129 others(26): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69296721 | AGATAGAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG00733.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0083a0001c0001t0001g0101a0001c0001t0001g0117others(4): Show | 7 | 306 | 0.0229 | -7 | c.178 others(26): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GALNT16_chr14_69255158_69359466 | 69322926 | GTGTGTGT | G | intron_variant | MODIFIER | HG03927.hp2 HG06807.hp2 NA18966.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0180a0001c0001t0001g0232a0001c0001t0003g0079others(2): Show | 5 | 306 | 0.0163 | -7 | c.336 others(24): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 2/14 | chr14 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71233730 | ACCCACAG | A | intron_variant | MODIFIER | HG00735.hp1 HG01258.hp1 HG01261.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0041a0001c0001t0001g0045others(12): Show | 15 | 76 | 0.1974 | -7 | c.238 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71256579 | TAAAAACC | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01261.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0034a0001c0001t0002g0018a0001c0001t0002g0024others(9): Show | 12 | 76 | 0.1579 | -7 | c.239 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71360472 | ATCACTTT | A | intron_variant | MODIFIER | HG00438.hp1 HG02451.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(1): Show | a0001c0001t0002g0021a0001c0001t0002g0027a0001c0001t0006g0066others(2): Show | 5 | 76 | 0.0658 | -7 | c.422 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71387226 | TTTTAATG | T | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00738.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0041others(29): Show | 32 | 76 | 0.4211 | -7 | c.423 others(24): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71425674 | GCCTTTAC | G | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0002a0001c0001t0013g0073 | 2 | 76 | 0.0263 | -7 | c.962 others(24): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71501012 | CAGGCTGG | C | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0009t0010 | a0001c0001t0001g0037a0001c0001t0004g0048a0001c0009t0010g0071 | 3 | 76 | 0.0395 | -7 | c.963 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71654688 | TCTTTAAC | T | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0041others(27): Show | 30 | 76 | 0.3947 | -7 | c.108 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680609 | TCCCTCTC | T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0001g0042a0001c0001t0006g0056a0001c0001t0006g0057others(12): Show | 15 | 76 | 0.1974 | -7 | c.150 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | chr7 | TogoVar |