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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASIC4_chr2_219509482_219543772 | 219523301 | C | CGGA | intron_variant | MODIFIER | HG00597.hp1 HG01123.hp2 HG01981.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0018a0002c0006others(4): Show | a0001c0002t0001a0001c0018t0001a0002c0006t0001others(5): Show | a0001c0002t0001g0051 a0001c0018t0001g0148 a0002c0006t0001g0015 others(13): Show |
22 | 370 | 0.0595 | 3 | c.582 others(20): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASIC4_chr2_219509482_219543772 | 219534031 | C | CAAA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01891.hp2 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0024others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0024t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0141 others(10): Show |
18 | 170 | 0.1059 | 3 | c.107 others(22): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASIC4_chr2_219509482_219543772 | 219534031 | C | CAGA | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG01168.hp1 others(10): Show |
a0001a0002a0003 | a0001c0002a0002c0006a0003c0004others(1): Show | a0001c0002t0001a0002c0006t0001a0003c0004t0001others(1): Show | a0001c0002t0001g0047 a0002c0006t0001g0022 a0003c0004t0001g0048 others(8): Show |
13 | 165 | 0.0788 | 3 | c.107 others(22): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASIC5_chr4_155824729_155871277 | 155827730 | C | CAAA | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012 a0001c0002t0001g0003 a0001c0002t0001g0024 others(2): Show |
8 | 167 | 0.0479 | 3 | c.*21 others(14): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 1998 | chr4 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34253447 | T | TTTA | intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02559.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050 a0001c0001t0001g0076 a0001c0001t0001g0077 others(14): Show |
20 | 286 | 0.0699 | 3 | c.-10 others(20): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34258770 | A | ATAC | intron_variant | MODIFIER | HG00738.hp1 HG01169.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0033 others(16): Show |
28 | 304 | 0.0921 | 3 | c.-10 others(20): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34258779 | G | GTAT | intron_variant | MODIFIER | HG00738.hp1 HG01169.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0033 others(16): Show |
28 | 231 | 0.1212 | 3 | c.-10 others(20): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34267459 | C | CAAA | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01169.hp1 others(28): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0035 others(19): Show |
31 | 201 | 0.1542 | 3 | c.223 others(20): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34267950 | A | ATTC | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(103): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0024 others(89): Show |
106 | 304 | 0.3487 | 3 | c.223 others(20): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASL_chr7_66070819_66098576 | 66072041 | C | CTTT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0025 others(13): Show |
41 | 261 | 0.1571 | 3 | c.-38 others(14): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 3777 | chr7 | TogoVar | |||||||
ASL_chr7_66070819_66098576 | 66078626 | C | CTTA | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011 | a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0027 others(7): Show |
19 | 313 | 0.0607 | 3 | c.12+ others(18): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1398596 | C | CCCA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01070.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0038others(3): Show | a0001c0001t0001a0002c0003t0002a0002c0038t0002others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0079 a0002c0003t0002g0034 others(10): Show |
13 | 182 | 0.0714 | 3 | c.*46 others(14): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4542 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1406571 | T | TGGA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00733.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0008a0001c0010a0001c0037others(7): Show | a0001c0008t0001a0001c0010t0001a0001c0037t0001others(7): Show | a0001c0008t0001g0045 a0001c0010t0001g0015 a0001c0010t0001g0177 others(16): Show |
19 | 183 | 0.1038 | 3 | c.164 others(22): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1413348 | A | AGGC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(60): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0001c0010others(12): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(60): Show |
63 | 183 | 0.3443 | 3 | c.152 others(20): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1415471 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(160): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0008a0001c0010others(31): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(34): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(158): Show |
163 | 174 | 0.9368 | 3 | c.152 others(22): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1420960 | A | ATTT | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01884.hp2 others(5): Show |
a0001a0002a0007others(1): Show | a0001c0010a0001c0037a0002c0028others(3): Show | a0001c0010t0001a0001c0037t0001a0002c0028t0001others(3): Show | a0001c0010t0001g0177 a0001c0010t0001g0181 a0001c0037t0001g0005 others(5): Show |
8 | 23 | 0.3478 | 3 | c.124 others(20): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 9/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1456286 | C | CTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(51): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0031others(13): Show | a0001c0001t0001a0001c0008t0001a0001c0031t0001others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0056 others(51): Show |
54 | 92 | 0.5870 | 3 | c.-34 others(14): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 3378 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1619549 | T | TATA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(48): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 others(48): Show |
51 | 133 | 0.3835 | 3 | c.70- others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1625104 | C | CTTT | intron_variant | MODIFIER | HG00741.hp2 HG02280.hp1 HG03195.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0002a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 others(3): Show |
6 | 175 | 0.0343 | 3 | c.374 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1625954 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG01361.hp1 others(7): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0066 a0001c0001t0002g0119 a0001c0003t0002g0149 others(7): Show |
10 | 56 | 0.1786 | 3 | c.374 others(20): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1628830 | T | TCTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(159): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(158): Show |
162 | 221 | 0.7330 | 3 | c.444 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1630300 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0040 a0001c0001t0001g0069 a0001c0001t0001g0082 others(34): Show |
37 | 98 | 0.3776 | 3 | c.562 others(18): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1644219 | T | TTTA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(60): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(59): Show |
63 | 99 | 0.6364 | 3 | c.*12 others(14): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1139 | chrX | TogoVar | |||||||
ASNS_chr7_97846677_97877408 | 97861023 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(128): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0024 others(72): Show |
131 | 246 | 0.5325 | 3 | c.488 others(20): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
ASNS_chr7_97846677_97877408 | 97876429 | A | ATTT | upstream_gene_variant | MODIFIER | HG02074.hp1 NA18964.hp2 NA18966.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0132 others(1): Show |
9 | 268 | 0.0336 | 3 | c.-41 others(14): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 4022 | chr7 | TogoVar | |||||||
ASPA_chr17_3470997_3508405 | 3490537 | G | GTGC | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00642.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0083 a0001c0001t0001g0218 a0001c0001t0002g0142 others(31): Show |
40 | 448 | 0.0893 | 3 | c.634 others(20): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3491877 | C | CTTT | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01175.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0126 others(18): Show |
21 | 92 | 0.2283 | 3 | c.635 others(20): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3493560 | C | CAAA | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0005g0369 a0001c0001t0006g0217 a0001c0001t0008g0327 others(3): Show |
7 | 83 | 0.0843 | 3 | c.635 others(18): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50509103 | A | ATTT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG02145.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(3): Show |
9 | 173 | 0.0520 | 3 | c.*26 others(14): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2499 | chr19 | TogoVar | |||||||
ASPDH_chr19_50506603_50518913 | 50516671 | T | TAAG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(198): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(11): Show |
201 | 370 | 0.5432 | 3 | c.-28 others(14): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2759 | chr19 | TogoVar | |||||||
ASPG_chr14_104080700_104120582 | 104089947 | C | CAAA | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG01074.hp2 others(34): Show |
a0002a0007 | a0002c0002a0002c0003a0002c0013others(1): Show | a0002c0002t0002a0002c0002t0013a0002c0003t0001others(6): Show | a0002c0002t0002g0004 a0002c0002t0002g0018 a0002c0002t0002g0049 others(23): Show |
37 | 84 | 0.4405 | 3 | c.83- others(18): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ASPHD1_chr16_29895488_29911056 | 29900594 | T | TAGG | 5_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0049 others(1): Show |
7 | 392 | 0.0179 | 3 | c.-37 others(12): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1/3 | 372 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ASPHD1_chr16_29895488_29911056 | 29901481 | G | GGGT | disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(56): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(14): Show |
59 | 392 | 0.1505 | 3 | c.513 others(10): Show |
p.Gly others(6): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1/3 | 1000/1816 | 516/1173 | 172/390 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ASPHD1_chr16_29895488_29911056 | 29908683 | C | CTTT | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 others(1): Show |
7 | 382 | 0.0183 | 3 | c.*27 others(14): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 2628 | chr16 | TogoVar | |||||||
ASPHD1_chr16_29895488_29911056 | 29910397 | A | AAAT | downstream_gene_variant | MODIFIER | HG03688.hp2 HG03927.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 383 | 0.0078 | 3 | c.*45 others(14): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 4342 | chr16 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26441478 | T | TAAA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00738.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0003g0014 a0001c0001t0003g0034 a0001c0001t0003g0143 others(27): Show |
45 | 93 | 0.4839 | 3 | c.887 others(18): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26441478 | T | TTAA | intron_variant | MODIFIER | HG00323.hp2 HG03239.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0035 | a0001c0001t0002g0059 a0001c0001t0009g0059 a0001c0001t0035g0196 |
3 | 51 | 0.0588 | 3 | c.887 others(18): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26444227 | G | GTTT | 3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG00741.hp2 HG01099.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0018a0001c0001t0022others(2): Show | a0001c0001t0006g0010 a0001c0001t0006g0048 a0001c0001t0006g0049 others(11): Show |
24 | 391 | 0.0614 | 3 | c.*10 others(14): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 4/4 | 1035 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61497442 | T | TGGG | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01099.hp1 others(20): Show |
a0001 | a0001c0001a0001c0005a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0049 others(20): Show |
23 | 58 | 0.3966 | 3 | c.*59 others(14): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 3113 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61499196 | A | AGAC | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01517.hp1 HG01884.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(4): Show | a0001c0001t0001g0018 a0001c0001t0007g0064 a0001c0001t0007g0065 others(14): Show |
17 | 256 | 0.0664 | 3 | c.*41 others(14): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1359 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61501139 | T | TAAC | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0034 | a0001c0001t0025g0189 a0001c0001t0034g0257 |
2 | 256 | 0.0078 | 3 | c.*22 others(14): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 25/25 | 2219 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61509136 | G | GAAA | intron_variant | MODIFIER | HG02055.hp1 HG02886.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0021 | a0001c0001t0009g0012 a0001c0001t0009g0077 a0001c0001t0009g0142 others(3): Show |
6 | 256 | 0.0234 | 3 | c.212 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 24/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61519676 | G | GGGA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(247): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(246): Show |
250 | 256 | 0.9766 | 3 | c.190 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 22/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61577399 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00621.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0047 others(58): Show |
61 | 154 | 0.3961 | 3 | c.106 others(20): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 15/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61667365 | A | ATTT | intron_variant | MODIFIER | HG02055.hp2 HG02976.hp2 HG03579.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075 |
3 | 256 | 0.0117 | 3 | c.322 others(22): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 3/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61706427 | A | AAAG | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0178 a0001c0001t0004g0252 a0001c0001t0011g0250 others(2): Show |
6 | 233 | 0.0258 | 3 | c.103 others(20): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197095767 | T | TGTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0002a0004others(25): Show | a0001c0001a0001c0003a0001c0008others(34): Show | a0001c0001t0001a0001c0001t0009a0001c0003t0001others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(161): Show |
237 | 294 | 0.8061 | 3 | c.898 others(20): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 19/27 | chr1 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 82009639 | A | ACGT | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp1 HG02896.hp2 others(2): Show |
a0002a0005 | a0002c0002a0005c0009 | a0002c0002t0001a0005c0009t0001 | a0002c0002t0001g0311 a0005c0009t0001g0033 a0005c0009t0001g0152 others(1): Show |
5 | 364 | 0.0137 | 3 | c.117 others(18): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 9/15 | chr17 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 82010087 | G | GTTT | intron_variant | MODIFIER | HG01358.hp1 HG01433.hp1 HG02818.hp2 others(6): Show |
a0002 | a0002c0002a0002c0019 | a0002c0002t0001a0002c0019t0001 | a0002c0002t0001g0051 a0002c0002t0001g0076 a0002c0002t0001g0077 others(6): Show |
9 | 182 | 0.0495 | 3 | c.117 others(20): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82018361 | C | CCTT | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02055.hp1 others(4): Show |
a0004a0005 | a0004c0010a0004c0015a0005c0009 | a0004c0010t0001a0004c0015t0001a0005c0009t0001 | a0004c0010t0001g0148 a0004c0010t0001g0154 a0004c0010t0001g0157 others(3): Show |
7 | 364 | 0.0192 | 3 | c.*10 others(14): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 956 | chr17 | TogoVar |