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 | 1613243 | C | CTCTT | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02559.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0005t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0043others(10): Show | 13 | 223 | 0.0583 | 4 | c.-19 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1815 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1625528 | A | AGAAG | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0037others(31): Show | 34 | 223 | 0.1525 | 4 | c.374 others(21): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1625542 | A | AAGGG | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG01346.hp2 others(17): Show |
a0001a0002a0013others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0068a0001c0001t0001g0079others(17): Show | 20 | 223 | 0.0897 | 4 | c.374 others(21): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1629038 | C | CCTTT | intron_variant | MODIFIER | HG02559.hp1 HG02723.hp1 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0205a0001c0001t0001g0209others(2): Show | 6 | 223 | 0.0269 | 4 | c.444 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1630300 | A | ATTTT | intron_variant | MODIFIER | HG00544.hp2 HG01168.hp2 NA19080.hp2 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0108a0002c0002t0001g0119a0002c0006t0001g0187 | 3 | 223 | 0.0135 | 4 | c.562 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1630871 | T | TTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(155): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0024others(154): Show | 158 | 223 | 0.7085 | 4 | c.562 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1633642 | A | ATTTT | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00733.hp1 others(40): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0024others(39): Show | 43 | 223 | 0.1928 | 4 | c.787 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1635963 | C | CTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01071.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0065others(8): Show | 11 | 223 | 0.0493 | 4 | c.788 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1636110 | C | CCACG | intron_variant | MODIFIER | NA18963.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0109 | 1 | 223 | 0.0045 | 4 | c.788 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1644219 | T | TTTTA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02004.hp2 HG02683.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002 | a0001c0001t0002g0132a0002c0002t0001g0018a0002c0002t0001g0125others(1): Show | 4 | 223 | 0.0179 | 4 | c.*12 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1139 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1646958 | C | CTCTA | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 | 1 | 223 | 0.0045 | 4 | c.*39 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3878 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1646958 | C | CTCTT | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01891.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0043others(16): Show | 20 | 223 | 0.0897 | 4 | c.*39 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3878 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1647117 | C | CTCTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(103): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(103): Show | 106 | 223 | 0.4753 | 4 | c.*41 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4037 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1647160 | C | CCTTT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(60): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0028others(59): Show | 63 | 223 | 0.2825 | 4 | c.*41 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4080 | chrX | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97861023 | C | CTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp1 others(53): Show |
a0001a0005 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0027others(25): Show | 56 | 436 | 0.1284 | 4 | c.488 others(21): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97868519 | A | ATGTG | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG01243.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0097a0001c0001t0001g0098others(1): Show | 6 | 436 | 0.0138 | 4 | c.249 others(19): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3489569 | A | AAAAG | intron_variant | MODIFIER | HG00558.hp2 HG01167.hp2 HG01243.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0029a0001c0001t0001g0152others(44): Show | 52 | 450 | 0.1156 | 4 | c.634 others(19): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPA_chr17_3470997_3508405 | 3503202 | G | GGAAT | 3_prime_UTR_variant | MODIFIER | HG02809.hp1 HG02897.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0026 | a0001c0001t0015g0147a0001c0001t0015g0203a0001c0001t0015g0221others(1): Show | 4 | 450 | 0.0089 | 4 | c.*41 others(15): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 6/6 | 4143 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
ASPA_chr17_3470997_3508405 | 3506986 | A | AGAAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(314): Show | 370 | 450 | 0.8222 | 4 | c.*78 others(15): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 3582 | chr17 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50508698 | C | CGTGT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG04204.hp1 NA18522.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(2): Show | 6 | 372 | 0.0161 | 4 | c.*30 others(15): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2904 | chr19 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50516788 | C | CCGGA | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01106.hp2 others(26): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0006c0009t0001g0023 | 29 | 372 | 0.0780 | 4 | c.-29 others(15): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2876 | chr19 | TogoVar | ||||||
ASPG_chr14_104080700_104120582 | 104089947 | C | CAAAA | intron_variant | MODIFIER | HG01978.hp1 HG02129.hp1 HG02622.hp1 others(5): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0002t0013a0002c0003t0001others(2): Show | a0002c0002t0002g0186a0002c0002t0002g0187a0002c0002t0002g0249others(4): Show | 8 | 368 | 0.0217 | 4 | c.83- others(19): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ASPHD1_chr16_29895488_29911056 | 29898423 | T | TTCTC | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(5): Show | 10 | 394 | 0.0254 | 4 | c.-25 others(15): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 2064 | chr16 | TogoVar | ||||||
ASPHD1_chr16_29895488_29911056 | 29909050 | G | GATTC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00639.hp2 others(51): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(13): Show | 54 | 394 | 0.1371 | 4 | c.*31 others(15): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 2995 | chr16 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26438510 | T | TACAC | intron_variant | MODIFIER | HG01993.hp2 HG03492.hp2 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 4 | 428 | 0.0094 | 4 | c.887 others(21): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26438652 | C | CATAT | intron_variant | MODIFIER | NA18950.hp2 NA18961.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0107 | 3 | 428 | 0.0070 | 4 | c.887 others(21): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPHD2_chr22_26424260_26450015 | 26441478 | T | TAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01517.hp2 HG01981.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0013others(2): Show | a0001c0001t0003g0050a0001c0001t0003g0154a0001c0001t0005g0052others(7): Show | 13 | 428 | 0.0304 | 4 | 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 | 26441478 | T | TTAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp1 others(62): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0008a0001c0001t0002g0005a0001c0001t0002g0006others(32): Show | 65 | 428 | 0.1519 | 4 | c.887 others(19): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26442196 | C | CATTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(164): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0008a0001c0001t0002g0005a0001c0001t0002g0006others(105): Show | 167 | 428 | 0.3902 | 4 | c.887 others(19): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61496661 | A | ATAGT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(93): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0001g0023a0001c0001t0001g0035a0001c0001t0001g0038others(93): Show | 96 | 258 | 0.3721 | 4 | c.*66 others(15): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 3894 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61499366 | G | GAAAT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(105): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0031others(105): Show | 108 | 258 | 0.4186 | 4 | c.*39 others(15): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1189 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61503265 | C | CTCTT | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02886.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0021 | a0001c0001t0009g0012a0001c0001t0009g0077a0001c0001t0009g0142others(3): Show | 6 | 258 | 0.0233 | 4 | c.*90 others(11): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 25/25 | 93 | chr8 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61507659 | G | GATGA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(251): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(250): Show | 254 | 258 | 0.9845 | 4 | c.212 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 24/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61523304 | T | TTTTC | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(90): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0035others(90): Show | 93 | 258 | 0.3605 | 4 | c.190 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 22/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61539699 | G | GGTGT | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0064a0001c0001t0007g0065a0001c0001t0007g0066 | 3 | 258 | 0.0116 | 4 | c.176 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61550442 | T | TACAC | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp1 HG01975.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0049a0001c0001t0001g0052a0001c0001t0001g0056others(7): Show | 10 | 258 | 0.0388 | 4 | c.162 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 20/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61561068 | A | AAGGG | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015a0001c0001t0002g0139 | 2 | 258 | 0.0078 | 4 | c.143 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61561124 | G | GAGGA | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp1 HG01071.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0005g0145a0001c0001t0005g0146a0001c0001t0005g0180others(10): Show | 14 | 258 | 0.0543 | 4 | c.143 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61561128 | G | GAGGA | intron_variant | MODIFIER | HG02886.hp2 HG03041.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0020a0001c0001t0005g0030a0001c0001t0009g0012 | 3 | 258 | 0.0116 | 4 | c.143 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61562290 | A | AAGTG | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(221): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0018a0001c0001t0001g0023a0001c0001t0001g0031others(220): Show | 224 | 258 | 0.8682 | 4 | c.143 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61562389 | C | CTCTG | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02129.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0089a0001c0001t0002g0040a0001c0001t0003g0202others(16): Show | 19 | 258 | 0.0736 | 4 | c.143 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61577399 | C | CAAAA | intron_variant | MODIFIER | HG00558.hp1 HG01975.hp2 HG02148.hp1 others(10): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0019a0001c0001t0001g0087a0001c0001t0001g0098others(10): Show | 13 | 258 | 0.0504 | 4 | c.106 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 15/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61577421 | A | AAAAG | intron_variant | MODIFIER | HG02055.hp2 HG02976.hp2 HG03516.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0018a0001c0001t0030others(1): Show | a0001c0001t0002g0040a0001c0001t0018g0010a0001c0001t0030g0196others(3): Show | 6 | 258 | 0.0233 | 4 | c.106 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 15/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61584632 | C | CTTCT | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01070.hp1 others(86): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0031others(85): Show | 89 | 258 | 0.3450 | 4 | c.977 others(19): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61590550 | C | CTGTG | intron_variant | MODIFIER | HG01192.hp2 HG02809.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0019a0001c0001t0004g0228a0001c0001t0005g0017others(1): Show | 4 | 258 | 0.0155 | 4 | c.977 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61700532 | A | ATTTC | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0178a0001c0001t0004g0252a0001c0001t0011g0250others(2): Show | 6 | 258 | 0.0233 | 4 | c.103 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61705817 | C | CACAT | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00735.hp1 others(56): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0084others(56): Show | 59 | 258 | 0.2287 | 4 | c.103 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 81982744 | C | CTCTT | intron_variant | MODIFIER | HG00621.hp2 HG01346.hp1 HG01361.hp1 others(14): Show |
a0001 | a0001c0004a0001c0014a0001c0017 | a0001c0004t0001a0001c0014t0001a0001c0017t0001 | a0001c0004t0001g0026a0001c0004t0001g0027a0001c0004t0001g0177others(12): Show | 17 | 366 | 0.0465 | 4 | c.159 others(19): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPSCR1_chr17_81972629_82022406 | 82006211 | G | GGTGT | intron_variant | MODIFIER | HG02055.hp2 HG02818.hp2 HG02965.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0297a0002c0002t0001g0298a0002c0002t0001g0299others(1): Show | 4 | 366 | 0.0109 | 4 | c.934 others(21): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPSCR1_chr17_81972629_82022406 | 82013479 | G | GTGCC | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01169.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0119a0001c0003t0001g0290a0001c0004t0001g0172others(3): Show | 7 | 366 | 0.0191 | 4 | c.135 others(23): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |