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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASCC1_chr10_72091032_72221276 | 72133181 | C | A | missense_variant others(1): Show |
MODERATE | NA20300.hp2 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0197 | 1 | 216 | 0.0046 | 0 | c.747 others(3): Show |
p.Arg others(6): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 8/10 | 850/2479 | 747/1074 | 249/357 | chr10 | TogoVar | ||
ASCC2_chr22_29783611_29843274 | 29793354 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG02080.hp1 NA18966.hp1 others(1): Show |
a0002 | a0002c0002a0002c0019 | a0002c0002t0002a0002c0019t0002 | a0002c0002t0002g0009a0002c0002t0002g0078a0002c0019t0002g0072 | 4 | 372 | 0.0108 | 0 | c.191 others(6): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 17/19 | chr22 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29793357 | C | T | splice_region_variant others(1): Show |
LOW | NA20905.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0273 | 1 | 372 | 0.0027 | 0 | c.191 others(6): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 17/19 | chr22 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29804632 | A | G | splice_region_variant others(1): Show |
LOW | NA18945.hp1 NA18998.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0099a0002c0002t0002g0100 | 2 | 372 | 0.0054 | 0 | c.135 others(6): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 13/19 | chr22 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29806909 | G | T | splice_region_variant others(1): Show |
LOW | HG00609.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193a0001c0001t0001g0194 | 2 | 372 | 0.0054 | 0 | c.909 others(5): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 9/19 | chr22 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29832238 | G | A | splice_region_variant others(1): Show |
LOW | HG03139.hp2 NA21309.hp2 |
a0009 | a0009c0009 | a0009c0009t0002 | a0009c0009t0002g0123a0009c0009t0002g0124 | 2 | 372 | 0.0054 | 0 | c.81+ others(4): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 2/19 | chr22 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100540390 | GA | G | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG01256.hp2 HG01358.hp2 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0003a0005c0007others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0201a0001c0002t0001g0202a0001c0002t0001g0203others(13): Show | 16 | 314 | 0.0510 | -1 | c.555 others(7): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 36/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100646775 | A | G | splice_region_variant others(1): Show |
LOW | NA18945.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0195 | 1 | 314 | 0.0032 | 0 | c.347 others(6): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 21/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100650532 | A | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00609.hp2 HG02083.hp2 others(12): Show |
a0001a0007a0014others(1): Show | a0001c0006a0007c0012a0007c0025others(2): Show | a0001c0006t0005a0007c0012t0009a0007c0025t0017others(2): Show | a0001c0006t0005g0161a0001c0006t0005g0162a0001c0006t0005g0163others(12): Show | 15 | 314 | 0.0478 | 0 | c.325 others(6): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 20/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100662544 | C | T | splice_region_variant others(1): Show |
LOW | HG03710.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0068 | 1 | 314 | 0.0032 | 0 | c.228 others(6): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 14/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100767146 | T | C | missense_variant others(1): Show |
MODERATE | NA18963.hp2 | a0017 | a0017c0031 | a0017c0031t0003 | a0017c0031t0003g0110 | 1 | 314 | 0.0032 | 0 | c.159 others(4): Show |
p.Lys others(6): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 9/42 | 1905/8111 | 1595/6609 | 532/2202 | chr6 | TogoVar | ||
ASCC3_chr6_100503194_100886329 | 100767347 | TA | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(299): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0006others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(47): Show | a0001c0001t0001g0208a0001c0001t0001g0212a0001c0001t0001g0213others(299): Show | 302 | 314 | 0.9618 | -1 | c.139 others(7): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 8/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100800297 | T | C | splice_region_variant others(1): Show |
LOW | HG00741.hp2 HG01515.hp1 HG01517.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0058a0002c0003t0002g0059a0002c0003t0002g0157others(2): Show | 5 | 314 | 0.0159 | 0 | c.112 others(6): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 6/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100864221 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(309): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0006others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(52): Show | a0001c0001t0001g0208a0001c0001t0001g0212a0001c0001t0001g0213others(309): Show | 312 | 314 | 0.9936 | 0 | c.91- others(4): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 2/41 | chr6 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7101739 | T | A | missense_variant others(1): Show |
MODERATE | HG02055.hp2 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0215 | 1 | 432 | 0.0023 | 0 | c.757 others(3): Show |
p.Asn others(6): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 9/9 | 1035/1448 | 757/921 | 253/306 | chr17 | TogoVar | ||
ASGR2_chr17_7096326_7119822 | 7107906 | T | G | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00609.hp1 HG00738.hp2 others(39): Show |
a0001 | a0001c0002a0001c0010a0001c0017 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0011a0001c0002t0001g0017a0001c0002t0001g0040others(31): Show | 42 | 432 | 0.0972 | 0 | c.339 others(3): Show |
p.Gly others(6): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 5/9 | 617/1448 | 339/921 | 113/306 | chr17 | TogoVar | ||
ASH1L_chr1_155330268_155567803 | 155521622 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG01975.hp2 HG03834.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0079a0001c0001t0001g0081a0001c0001t0001g0083others(2): Show | 5 | 182 | 0.0275 | 0 | c.-99 others(5): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38138809 | G | A | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00544.hp1 HG00544.hp2 others(59): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0003others(47): Show | 62 | 330 | 0.1879 | 0 | c.172 others(6): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 14/15 | chr8 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50059957 | G | A | splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG02145.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0001 | a0001c0001t0003g0008a0001c0004t0001g0052 | 7 | 324 | 0.0216 | 0 | c.558 others(5): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | chr12 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50080062 | G | T | splice_region_variant others(1): Show |
LOW | HG03834.hp1 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0128 | 1 | 324 | 0.0031 | 0 | c.120 others(6): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 8/11 | chr12 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33028396 | C | T | splice_region_variant others(1): Show |
LOW | HG01433.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0006a0001c0001t0011a0001c0001t0021others(3): Show | a0001c0001t0006g0017a0001c0001t0006g0026a0001c0001t0011g0002others(6): Show | 9 | 240 | 0.0375 | 0 | c.988 others(5): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
ASIC3_chr7_151043531_151057754 | 151050254 | A | G | missense_variant others(1): Show |
MODERATE | NA18948.hp1 NA18954.hp2 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0010 | 2 | 418 | 0.0048 | 0 | c.683 others(3): Show |
p.Asn others(6): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 2/11 | 1038/2053 | 683/1596 | 228/531 | chr7 | TogoVar | ||
ASIC3_chr7_151043531_151057754 | 151051805 | C | G | splice_region_variant others(1): Show |
LOW | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 418 | 0.0024 | 0 | c.121 others(6): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 6/10 | chr7 | TogoVar | ||||||
ASIC5_chr4_155824729_155871277 | 155831825 | A | G | splice_region_variant others(1): Show |
LOW | HG01981.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0060 | 1 | 334 | 0.0030 | 0 | c.132 others(4): Show |
p.Leu others(6): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 9/10 | 1377/1696 | 1326/1518 | 442/505 | chr4 | TogoVar | ||
ASIC5_chr4_155824729_155871277 | 155866188 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(276): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(148): Show | 279 | 334 | 0.8353 | 0 | c.39C others(2): Show |
p.Asn others(5): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 1/10 | 90/1696 | 39/1518 | 13/505 | chr4 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66087394 | G | A | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG02280.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0115a0001c0003t0001g0098 | 2 | 316 | 0.0063 | 0 | c.655 others(5): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 9/16 | chr7 | TogoVar | ||||||
ASL_chr7_66070819_66098576 | 66087724 | C | A | splice_region_variant others(1): Show |
LOW | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 316 | 0.0032 | 0 | c.656 others(5): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 9/16 | chr7 | TogoVar | ||||||
ASL_chr7_66070819_66098576 | 66089093 | C | G | missense_variant others(1): Show |
MODERATE | NA18955.hp2 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0068 | 1 | 316 | 0.0032 | 0 | c.836 others(3): Show |
p.Thr others(6): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 12/17 | 917/2140 | 836/1395 | 279/464 | chr7 | TogoVar | ||
ASL_chr7_66070819_66098576 | 66089181 | C | G | splice_region_variant others(1): Show |
LOW | NA18955.hp2 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0068 | 1 | 316 | 0.0032 | 0 | c.918 others(5): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 12/16 | chr7 | TogoVar | ||||||
ASL_chr7_66070819_66098576 | 66089183 | A | G | splice_region_variant others(1): Show |
LOW | NA18955.hp2 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0068 | 1 | 316 | 0.0032 | 0 | c.918 others(5): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 12/16 | chr7 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1417970 | C | T | splice_region_variant others(1): Show |
LOW | HG02615.hp2 NA20300.hp1 |
a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0166a0006c0016t0001g0169 | 2 | 185 | 0.0108 | 0 | c.152 others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1418120 | C | T | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(50): Show |
a0000a0001a0002others(8): Show | a0000c0007a0000c0030a0000c0039others(20): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(20): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(50): Show | 53 | 185 | 0.2865 | 0 | c.137 others(6): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 10/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1435014 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0008a0001c0042others(11): Show | a0001c0001t0001a0001c0008t0001a0001c0042t0001others(11): Show | a0001c0001t0001g0052a0001c0008t0001g0032a0001c0008t0001g0045others(24): Show | 27 | 185 | 0.1460 | 0 | c.400 others(5): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 5/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1435756 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(58): Show |
a0000a0001a0002others(9): Show | a0000c0039a0000c0043a0001c0008others(16): Show | a0000c0039t0001a0000c0043t0001a0001c0008t0001others(16): Show | a0000c0039t0001g0148a0000c0043t0001g0069a0001c0008t0001g0004others(58): Show | 61 | 185 | 0.3297 | 0 | c.276 others(3): Show |
p.Thr others(5): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4/13 | 345/2065 | 276/1866 | 92/621 | chrX | TogoVar | ||
ASMTL_chrX_1398139_1457909 | 1435762 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(54): Show |
a0000a0001a0002others(9): Show | a0000c0039a0000c0043a0001c0008others(14): Show | a0000c0039t0001a0000c0043t0001a0001c0008t0001others(14): Show | a0000c0039t0001g0148a0000c0043t0001g0069a0001c0008t0001g0004others(54): Show | 57 | 185 | 0.3081 | 0 | c.274 others(5): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 3/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1452749 | G | C | missense_variant others(1): Show |
MODERATE | HG01496.hp1 HG01981.hp1 |
a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0181a0008c0018t0001g0182 | 2 | 185 | 0.0108 | 0 | c.92C others(2): Show |
p.Ala others(5): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/13 | 161/2065 | 92/1866 | 31/621 | chrX | TogoVar | ||
ASMT_chrX_1610059_1648081 | 1624254 | T | TTG | splice_region_variant others(1): Show |
LOW | NA18988.hp1 | a0014 | a0014c0018 | a0014c0018t0001 | a0014c0018t0001g0060 | 1 | 223 | 0.0045 | 2 | c.245 others(13): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1624403 | G | T | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG00438.hp1 HG00597.hp1 others(12): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0061a0001c0001t0001g0100a0001c0001t0001g0102others(12): Show | 15 | 223 | 0.0673 | 0 | c.374 others(5): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1636567 | TG | T | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00639.hp2 HG01071.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0043others(23): Show | 27 | 223 | 0.1211 | -1 | c.910 others(6): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | chrX | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97851677 | T | C | splice_region_variant | LOW | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0016a0001c0001t0002g0022others(30): Show | 65 | 436 | 0.1491 | 0 | c.*58 others(4): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 13/13 | chr7 | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97855459 | C | A | missense_variant others(1): Show |
MODERATE | HG02523.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0204 | 1 | 436 | 0.0023 | 0 | c.103 others(4): Show |
p.Gly others(6): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 9/13 | 1148/2385 | 1031/1686 | 344/561 | chr7 | TogoVar | ||
ASNS_chr7_97846677_97877408 | 97869770 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(200): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0003c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(102): Show | 203 | 436 | 0.4656 | 0 | c.-24 others(5): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50511773 | G | T | missense_variant others(1): Show |
MODERATE | HG01891.hp1 HG02486.hp1 HG02572.hp2 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0010a0004c0004t0001g0013 | 6 | 372 | 0.0161 | 0 | c.809 others(3): Show |
p.Ala others(6): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 7/7 | 899/1069 | 809/852 | 270/283 | chr19 | TogoVar | ||
ASPG_chr14_104080700_104120582 | 104095661 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0007others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(58): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(208): Show | 293 | 368 | 0.7962 | 0 | c.429 others(5): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 4/15 | chr14 | TogoVar | ||||||
ASPG_chr14_104080700_104120582 | 104105457 | G | C | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG02647.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0172a0002c0002t0002g0173 | 2 | 368 | 0.0054 | 0 | c.117 others(6): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 10/15 | chr14 | TogoVar | ||||||
ASPG_chr14_104080700_104120582 | 104107353 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0006a0001c0007others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(64): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(253): Show | 360 | 368 | 0.9783 | 0 | c.143 others(6): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 12/15 | chr14 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26443089 | C | T | splice_region_variant others(1): Show |
LOW | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 428 | 0.0023 | 0 | c.100 others(6): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 3/3 | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26443092 | C | G | splice_region_variant others(1): Show |
LOW | HG03688.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 428 | 0.0047 | 0 | c.100 others(6): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 3/3 | chr22 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61503515 | G | A | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(248): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(247): Show | 251 | 258 | 0.9729 | 0 | c.212 others(6): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 24/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61525971 | A | G | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(248): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(247): Show | 251 | 258 | 0.9729 | 0 | c.190 others(6): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 22/24 | chr8 | TogoVar |