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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASMT_chrX_1610059_1648081 | 1640365 | CTG | C | intron_variant | MODIFIER | HG03540.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0006a0001c0003t0001g0171 | 2 | 223 | 0.0090 | -2 | c.911 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1640693 | CTG | C | intron_variant | MODIFIER | HG02615.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0002g0135 | 2 | 223 | 0.0090 | -2 | c.911 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1640858 | CTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01123.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0076a0001c0001t0002g0196a0001c0001t0002g0200others(4): Show | 7 | 223 | 0.0314 | -2 | c.911 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1641023 | CTG | C | intron_variant | MODIFIER | HG01175.hp1 HG01993.hp2 NA18992.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0081a0001c0001t0002g0200a0001c0003t0001g0023 | 3 | 223 | 0.0135 | -2 | c.911 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1641185 | CCT | C | intron_variant | MODIFIER | HG02615.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0002g0135 | 2 | 223 | 0.0090 | -2 | c.911 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1641188 | CTG | C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 223 | 0.0045 | -2 | c.911 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1641277 | TGA | T | intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 | 1 | 223 | 0.0045 | -2 | c.911 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1644220 | TTA | T | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0175 | 1 | 223 | 0.0045 | -2 | c.*12 others(13): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1140 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1645139 | ATT | A | downstream_gene_variant | MODIFIER | HG03486.hp2 NA18977.hp2 NA19057.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0161a0001c0003t0002g0133a0001c0003t0002g0155 | 3 | 223 | 0.0135 | -2 | c.*21 others(13): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 2059 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1645403 | TTG | T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(134): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(133): Show | 137 | 223 | 0.6144 | -2 | c.*23 others(13): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 2323 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1646662 | CTT | C | downstream_gene_variant | MODIFIER | HG01256.hp1 NA18986.hp2 NA19010.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0103a0001c0003t0001g0093a0002c0002t0001g0044 | 3 | 223 | 0.0135 | -2 | c.*36 others(13): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3582 | chrX | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189661305 | CTG | C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01081.hp2 HG02055.hp1 others(7): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0009a0003c0004t0001g0123a0003c0004t0001g0124others(2): Show | 10 | 340 | 0.0294 | -2 | c.-52 others(11): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 153 | chr2 | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189662948 | CAA | C | intron_variant | MODIFIER | HG01943.hp2 HG02698.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024a0001c0001t0002g0115a0001c0001t0002g0116others(3): Show | 8 | 340 | 0.0235 | -2 | c.-22 others(19): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASNSD1_chr2_189656459_189675831 | 189665594 | ATG | A | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00673.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0021a0001c0001t0001g0084a0001c0001t0001g0121others(6): Show | 18 | 340 | 0.0529 | -2 | c.-93 others(17): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASNSD1_chr2_189656459_189675831 | 189665598 | GTA | G | intron_variant | MODIFIER | HG01261.hp1 HG02486.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0097a0001c0001t0001g0100a0001c0001t0003g0091others(1): Show | 4 | 340 | 0.0118 | -2 | c.-93 others(17): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASNSD1_chr2_189656459_189675831 | 189668499 | ACT | A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0080 | 3 | 340 | 0.0088 | -2 | c.164 others(19): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASNS_chr7_97846677_97877408 | 97847356 | GAA | G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01069.hp1 others(64): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0018others(29): Show | 67 | 436 | 0.1537 | -2 | c.*49 others(13): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 4320 | chr7 | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97857636 | AAC | A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0040a0001c0001t0001g0070others(9): Show | 20 | 436 | 0.0459 | -2 | c.903 others(17): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97877095 | CTT | C | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG03098.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0056others(7): Show | 10 | 436 | 0.0229 | -2 | c.-48 others(13): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 4688 | chr7 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3471678 | GCA | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01358.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0323others(41): Show | 48 | 450 | 0.1067 | -2 | c.-44 others(13): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 4318 | chr17 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3494037 | ATT | A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01243.hp1 others(38): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0060a0001c0001t0001g0086a0001c0001t0001g0121others(33): Show | 41 | 450 | 0.0911 | -2 | c.635 others(17): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPA_chr17_3470997_3508405 | 3495897 | CTG | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01358.hp2 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0060a0001c0001t0001g0086a0001c0001t0001g0121others(28): Show | 35 | 450 | 0.0778 | -2 | c.744 others(19): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 5/5 | chr17 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3504554 | CTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(265): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(223): Show | 268 | 450 | 0.5956 | -2 | c.*54 others(13): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 1150 | chr17 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50508698 | CGT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(86): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(9): Show | 89 | 372 | 0.2393 | -2 | c.*30 others(13): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2904 | chr19 | TogoVar | ||||||
ASPG_chr14_104080700_104120582 | 104089947 | CAA | C | intron_variant | MODIFIER | HG01346.hp1 HG01891.hp2 HG01993.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0031others(3): Show | a0001c0001t0001g0108a0001c0001t0001g0149a0001c0001t0001g0150others(5): Show | 8 | 368 | 0.0217 | -2 | c.83- others(17): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ASPG_chr14_104080700_104120582 | 104109597 | CAT | C | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00673.hp2 others(100): Show |
a0001a0002a0010 | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0002a0001c0006t0002a0001c0006t0028others(12): Show | a0001c0001t0002g0110a0001c0006t0002g0033a0001c0006t0002g0125others(62): Show | 103 | 368 | 0.2799 | -2 | c.152 others(19): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 13/15 | chr14 | TogoVar | ||||||
ASPG_chr14_104080700_104120582 | 104118849 | TGA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(116): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0018a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(85): Show | 119 | 368 | 0.3234 | -2 | c.*63 others(13): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 3268 | chr14 | TogoVar | ||||||
ASPHD1_chr16_29895488_29911056 | 29898423 | TTC | T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02280.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(5): Show | 19 | 394 | 0.0482 | -2 | c.-25 others(13): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 2064 | chr16 | TogoVar | ||||||
ASPHD1_chr16_29895488_29911056 | 29899110 | GTT | G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02080.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(14): Show | 35 | 394 | 0.0888 | -2 | c.-18 others(13): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1377 | chr16 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26431417 | GAA | G | intron_variant | MODIFIER | HG01978.hp1 HG01981.hp2 HG02004.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0033a0001c0001t0001g0043a0001c0001t0001g0051others(17): Show | 33 | 428 | 0.0771 | -2 | c.-22 others(21): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26436842 | ATG | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(201): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(104): Show | 204 | 428 | 0.4766 | -2 | c.886 others(19): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26438516 | CAT | C | intron_variant | MODIFIER | HG00733.hp1 HG01516.hp1 HG01517.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0005 | a0001c0001t0005g0052a0001c0001t0005g0168a0002c0003t0005g0034others(4): Show | 10 | 428 | 0.0234 | -2 | c.887 others(19): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26438536 | TAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(106): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0008a0001c0001t0001g0208a0001c0001t0002g0005others(67): Show | 109 | 428 | 0.2547 | -2 | c.887 others(19): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26438572 | CAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(118): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(57): Show | 121 | 428 | 0.2827 | -2 | c.887 others(19): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26438608 | CAT | C | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0033a0001c0001t0001g0155a0001c0001t0007g0136 | 5 | 428 | 0.0117 | -2 | c.887 others(19): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26438678 | TAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0008a0001c0001t0001g0146a0001c0001t0002g0008others(47): Show | 72 | 428 | 0.1682 | -2 | c.887 others(19): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26440796 | CTG | C | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp1 HG01175.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0023a0001c0001t0030others(1): Show | a0001c0001t0014g0016a0001c0001t0023g0016a0001c0001t0023g0164others(2): Show | 7 | 428 | 0.0164 | -2 | c.887 others(19): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26442105 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0008a0001c0001t0002g0005a0001c0001t0002g0006others(76): Show | 126 | 428 | 0.2944 | -2 | c.887 others(17): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26449323 | ATT | A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00741.hp2 HG02109.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0003g0180a0001c0001t0006g0010a0001c0001t0006g0047others(22): Show | 34 | 428 | 0.0794 | -2 | c.*61 others(13): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 4309 | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26449653 | CCT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(185): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(86): Show | 188 | 428 | 0.4393 | -2 | c.*64 others(13): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 4639 | chr22 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61505493 | CAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00609.hp1 others(95): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0018a0001c0001t0002g0040a0001c0001t0002g0058others(94): Show | 98 | 258 | 0.3798 | -2 | c.212 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 24/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61508339 | AAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(92): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0023a0001c0001t0001g0035a0001c0001t0001g0038others(92): Show | 95 | 258 | 0.3682 | -2 | c.212 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 24/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61524776 | TAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01099.hp2 others(27): Show |
a0001a0006 | a0001c0001a0001c0012a0006c0010 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0006g0027a0001c0001t0006g0028a0001c0001t0006g0029others(27): Show | 30 | 258 | 0.1163 | -2 | c.190 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 22/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61525369 | CAT | C | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00735.hp2 others(64): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0033others(6): Show | a0001c0001t0002g0058a0001c0001t0002g0092a0001c0001t0002g0093others(63): Show | 67 | 258 | 0.2597 | -2 | c.190 others(19): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 22/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61539699 | GGT | G | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp2 HG01517.hp1 others(3): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0007a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0007g0185a0001c0001t0009g0077a0001c0001t0010g0016others(3): Show | 6 | 258 | 0.0233 | -2 | c.176 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61550442 | TAC | T | intron_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG01069.hp1 others(86): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0018a0001c0001t0001g0031a0001c0001t0001g0089others(85): Show | 89 | 258 | 0.3450 | -2 | c.162 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 20/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61559941 | TGG | T | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00609.hp1 others(142): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0018a0001c0001t0001g0023a0001c0001t0001g0035others(141): Show | 145 | 258 | 0.5620 | -2 | c.143 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61562358 | CAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG01517.hp1 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0035others(41): Show | 44 | 258 | 0.1705 | -2 | c.143 others(19): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61562389 | CTG | C | intron_variant | MODIFIER | HG01175.hp1 HG01517.hp1 HG01884.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(3): Show | a0001c0001t0001g0018a0001c0001t0007g0064a0001c0001t0007g0065others(10): Show | 13 | 258 | 0.0504 | -2 | c.143 others(19): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61579931 | AAT | A | intron_variant | MODIFIER | HG01069.hp2 HG01496.hp1 HG02080.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(2): Show | a0001c0001t0001g0079a0001c0001t0008g0242a0001c0001t0013g0164others(2): Show | 5 | 258 | 0.0194 | -2 | c.106 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 15/24 | chr8 | TogoVar |