view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASMTL_chrX_1398139_1457909 | 1416357 | A | ACACG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(36): Show |
a0001a0002a0003others(5): Show | a0001c0012a0002c0003a0002c0004others(9): Show | a0001c0012t0001a0002c0003t0001a0002c0004t0001others(11): Show | a0001c0012t0001g0068 a0001c0012t0001g0164 a0002c0003t0001g0009 others(36): Show |
39 | 185 | 0.2108 | 4 | c.152 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1416390 | C | CACAG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(36): Show |
a0001a0002a0003others(5): Show | a0001c0012a0002c0003a0002c0004others(9): Show | a0001c0012t0001a0002c0003t0001a0002c0004t0001others(11): Show | a0001c0012t0001g0068 a0001c0012t0001g0164 a0002c0003t0001g0009 others(36): Show |
39 | 185 | 0.2108 | 4 | c.152 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1417411 | C | CACAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(162): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0008a0001c0010others(35): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(39): Show | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 others(161): Show |
165 | 185 | 0.8919 | 4 | c.152 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1417523 | G | GCACA | intron_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0130 | 1 | 185 | 0.0054 | 4 | c.152 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1417546 | G | GACAC | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(44): Show |
a0001a0002a0003others(8): Show | a0001c0010a0001c0012a0001c0040others(14): Show | a0001c0010t0001a0001c0012t0001a0001c0040t0001others(16): Show | a0001c0010t0001g0014 a0001c0010t0001g0174 a0001c0010t0001g0178 others(44): Show |
47 | 185 | 0.2541 | 4 | c.152 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1424853 | T | TCCAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0008a0001c0012others(25): Show | a0001c0001t0001a0001c0008t0001a0001c0012t0001others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 others(122): Show |
126 | 185 | 0.6811 | 4 | c.106 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 8/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1424996 | A | ACCAT | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0111 | 1 | 185 | 0.0054 | 4 | c.106 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 8/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1427002 | A | AAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(124): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0008a0001c0012others(25): Show | a0001c0001t0001a0001c0008t0001a0001c0012t0001others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 others(123): Show |
127 | 185 | 0.6865 | 4 | c.897 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 7/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1428646 | C | CAAAT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00735.hp2 others(12): Show |
a0002a0004a0005 | a0002c0003a0004c0007a0004c0009others(1): Show | a0002c0003t0001a0004c0007t0001a0004c0007t0002others(2): Show | a0002c0003t0001g0013 a0004c0007t0001g0007 a0004c0007t0001g0016 others(12): Show |
15 | 185 | 0.0811 | 4 | c.510 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1428887 | C | CTTAA | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01070.hp2 others(16): Show |
a0002a0003a0017others(1): Show | a0002c0003a0002c0004a0003c0029others(2): Show | a0002c0003t0001a0002c0004t0001a0002c0004t0002others(3): Show | a0002c0003t0001g0009 a0002c0003t0001g0091 a0002c0003t0001g0143 others(16): Show |
19 | 185 | 0.1027 | 4 | c.510 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1431123 | A | AATTG | intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0026 | a0005c0026t0001 | a0005c0026t0001g0175 | 1 | 185 | 0.0054 | 4 | c.509 others(21): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1439846 | A | AAAAG | intron_variant | MODIFIER | NA18985.hp1 | a0020 | a0020c0018 | a0020c0018t0001 | a0020c0018t0001g0067 | 1 | 185 | 0.0054 | 4 | c.226 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 2/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1456286 | C | CTTTT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01981.hp2 NA18959.hp1 others(1): Show |
a0001a0003a0004 | a0001c0008a0003c0006a0004c0007 | a0001c0008t0001a0003c0006t0001a0004c0007t0001 | a0001c0008t0001g0094 a0003c0006t0001g0139 a0003c0006t0001g0146 others(1): Show |
4 | 185 | 0.0216 | 4 | c.-34 others(15): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 3378 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1457673 | G | GTATC | upstream_gene_variant | MODIFIER | HG02896.hp2 HG02922.hp1 HG02922.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0010a0001c0012a0002c0003others(4): Show | a0001c0010t0001a0001c0012t0001a0002c0003t0001others(4): Show | a0001c0010t0001g0014 a0001c0012t0001g0164 a0002c0003t0001g0176 others(5): Show |
8 | 185 | 0.0432 | 4 | c.-48 others(15): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4765 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1457745 | G | GTATC | upstream_gene_variant | MODIFIER | HG02896.hp2 HG03195.hp1 |
a0001a0002 | a0001c0010a0002c0013 | a0001c0010t0001a0002c0013t0001 | a0001c0010t0001g0014 a0002c0013t0001g0177 |
2 | 185 | 0.0108 | 4 | c.-49 others(15): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4837 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1457855 | C | CTATG | upstream_gene_variant | MODIFIER | HG02523.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0071 | 1 | 185 | 0.0054 | 4 | c.-50 others(15): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4947 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1612954 | T | TTCTC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(82): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(81): Show |
85 | 223 | 0.3812 | 4 | c.-22 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 2104 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1613176 | C | CTTCT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp1 others(48): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0058 others(48): Show |
51 | 223 | 0.2287 | 4 | c.-20 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1882 | chrX | TogoVar | |||||||
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 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0043 others(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 | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0037 others(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 |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0068 a0001c0001t0001g0079 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0205 a0001c0001t0001g0209 others(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 | a0002c0002t0001g0108 a0002c0002t0001g0119 a0002c0006t0001g0187 |
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 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0024 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0024 others(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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0065 others(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 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0109 | 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 | a0001c0001t0002g0132 a0002c0002t0001g0018 a0002c0002t0001g0125 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0043 others(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 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0028 others(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 |
a0001a0006 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0027 others(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 | a0001c0001t0001g0035 a0001c0001t0001g0097 a0001c0001t0001g0098 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0152 others(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 | a0001c0001t0015g0147 a0001c0001t0015g0203 a0001c0001t0015g0221 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(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 |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0001a0009c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0009c0009t0001g0023 |
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 | a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0249 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(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 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(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 | a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0107 |
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 | a0001c0001t0003g0050 a0001c0001t0003g0154 a0001c0001t0005g0052 others(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 |
a0001a0004 | a0001c0001a0001c0008a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0008 a0001c0001t0002g0005 a0001c0001t0002g0006 others(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 |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0008 a0001c0001t0002g0005 a0001c0001t0002g0006 others(107): 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 |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0038 others(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 |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0031 others(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 | a0001c0001t0009g0012 a0001c0001t0009g0077 a0001c0001t0009g0142 others(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 |