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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASMTL_chrX_1398139_1457909 | 1424996 | ACCATCCA others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp2 NA18522.hp2 |
a0002 | a0002c0003a0002c0009 | a0002c0003t0001a0002c0009t0001 | a0002c0003t0001g0176a0002c0009t0001g0072 | 2 | 185 | 0.0108 | -8 | c.106 others(25): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 8/12 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1622838 | GGAGGCAG others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0091 | 1 | 223 | 0.0045 | -8 | c.70- others(21): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1630300 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0181 | 1 | 223 | 0.0045 | -8 | c.562 others(23): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1635874 | CAAACAAA others(1): Show |
C | intron_variant | MODIFIER | NA18950.hp1 NA18954.hp1 NA18998.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0065a0001c0001t0001g0084a0001c0001t0001g0086others(3): Show | 6 | 223 | 0.0269 | -8 | c.788 others(23): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1646958 | CTCTTTCT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00639.hp2 others(53): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0014others(53): Show | 56 | 223 | 0.2511 | -8 | c.*39 others(19): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3878 | chrX | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189665596 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02074.hp2 HG02109.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0010a0001c0001t0002g0023a0001c0001t0002g0115others(7): Show | 18 | 340 | 0.0529 | -8 | c.-93 others(23): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASNSD1_chr2_189656459_189675831 | 189665598 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02109.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0102a0001c0001t0003g0078a0001c0001t0003g0093 | 3 | 340 | 0.0088 | -8 | c.-93 others(23): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASPDH_chr19_50506603_50518913 | 50508698 | CGTGTGTG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02071.hp2 HG02132.hp1 HG02257.hp1 others(10): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0008t0001g0022 | 13 | 372 | 0.0350 | -8 | c.*30 others(19): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2904 | chr19 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26438596 | CACACATA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0008a0001c0001t0002g0008a0001c0001t0002g0026others(25): Show | 40 | 428 | 0.0935 | -8 | c.887 others(25): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61539699 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00741.hp1 others(62): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0018a0001c0001t0002g0040a0001c0001t0002g0092others(61): Show | 65 | 258 | 0.2519 | -8 | c.176 others(27): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61561091 | GGAGGGAG others(1): Show |
G | intron_variant | MODIFIER | HG03491.hp1 NA18522.hp1 NA19004.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0009a0001c0002t0002a0001c0011t0001 | a0001c0001t0009g0149a0001c0002t0002g0033a0001c0002t0002g0095others(1): Show | 4 | 258 | 0.0155 | -8 | c.143 others(27): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61584624 | TTTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00558.hp2 others(80): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0018a0001c0001t0001g0078a0001c0001t0001g0079others(80): Show | 83 | 258 | 0.3217 | -8 | c.977 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197145845 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp1 others(63): Show |
a0001a0015a0019others(4): Show | a0001c0003a0001c0034a0001c0045others(6): Show | a0001c0003t0001a0001c0003t0008a0001c0034t0001others(7): Show | a0001c0003t0001g0002a0001c0003t0001g0005a0001c0003t0001g0013others(43): Show | 66 | 296 | 0.2230 | -8 | c.297 others(23): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
ASPRV1_chr2_69955089_69966631 | 69962199 | GACACACA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01192.hp1 HG01891.hp2 others(10): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(2): Show | 13 | 464 | 0.0280 | -8 | c.-77 others(17): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 569 | chr2 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62361189 | GTTTTGTT others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0017others(1): Show | a0001c0001t0004g0023a0001c0001t0004g0024a0001c0001t0004g0025others(14): Show | 17 | 370 | 0.0460 | -8 | c.491 others(25): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62362891 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0020others(65): Show | 68 | 370 | 0.1838 | -8 | c.491 others(25): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62375428 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01255.hp1 HG02129.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(3): Show | a0001c0001t0001g0067a0001c0001t0001g0075a0001c0001t0001g0087others(6): Show | 9 | 370 | 0.0243 | -8 | c.492 others(27): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130454786 | TCATCCAT others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02809.hp2 others(8): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0008c0011t0001 | a0001c0001t0001g0018a0001c0001t0001g0138a0001c0001t0001g0139others(8): Show | 11 | 374 | 0.0294 | -8 | c.174 others(23): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ASS1_chr9_130439961_130506274 | 130501278 | AGTGTGTG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01069.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0042a0001c0001t0001g0047others(39): Show | 44 | 374 | 0.1177 | -8 | c.*25 others(17): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5 | chr9 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176904313 | CGTCCTGC others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01070.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0018others(12): Show | a0001c0001t0002g0012a0001c0001t0008g0086a0001c0001t0018g0054others(27): Show | 30 | 112 | 0.2679 | -8 | c.267 others(27): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176981211 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG02055.hp2 HG02615.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0018a0001c0002t0001a0001c0002t0007others(6): Show | a0001c0001t0018g0054a0001c0002t0001g0008a0001c0002t0007g0020others(10): Show | 13 | 112 | 0.1161 | -8 | c.152 others(29): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177002376 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp2 HG02809.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0020a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0002t0020g0007a0001c0003t0001g0034a0001c0003t0002g0018others(8): Show | 11 | 112 | 0.0982 | -8 | c.152 others(29): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177027713 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02486.hp2 |
a0001a0002 | a0001c0002a0002c0007a0002c0011 | a0001c0002t0002a0002c0007t0016a0002c0011t0001 | a0001c0002t0002g0108a0002c0007t0016g0066a0002c0011t0001g0015 | 3 | 112 | 0.0268 | -8 | c.112 others(27): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 5/22 | chr1 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 177034244 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp1 NA20752.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0089a0002c0004t0003g0095a0002c0004t0003g0103 | 3 | 112 | 0.0268 | -8 | c.472 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116419185 | TCACACAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01109.hp1 others(24): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(11): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0034others(24): Show | 27 | 102 | 0.2647 | -8 | c.*66 others(19): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3926 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116446272 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp2 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0006 | a0001c0001t0002g0051a0002c0004t0006g0003 | 2 | 102 | 0.0196 | -8 | c.349 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116462788 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01109.hp1 others(23): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(10): Show | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0037others(23): Show | 26 | 102 | 0.2549 | -8 | c.349 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116502682 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG03471.hp1 NA18906.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0001t0015a0001c0002t0002others(3): Show | a0001c0001t0006g0079a0001c0001t0015g0045a0001c0002t0002g0059others(3): Show | 6 | 102 | 0.0588 | -8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116502730 | GGAATGAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG01261.hp2 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0028a0001c0001t0001g0099a0001c0001t0002g0018others(13): Show | 16 | 102 | 0.1569 | -8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116530094 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01169.hp2 HG02615.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0009others(1): Show | a0001c0002t0004a0001c0003t0007a0001c0003t0010others(2): Show | a0001c0002t0004g0062a0001c0002t0004g0092a0001c0003t0007g0071others(3): Show | 6 | 102 | 0.0588 | -8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116565215 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG01891.hp1 HG01934.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(9): Show | a0001c0001t0001g0028a0001c0001t0008g0008a0001c0001t0008g0065others(11): Show | 14 | 102 | 0.1373 | -8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116565387 | CCATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01169.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0054a0001c0001t0002g0051a0001c0001t0004g0060others(4): Show | 7 | 102 | 0.0686 | -8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116578619 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG03139.hp1 HG03540.hp1 HG04199.hp2 others(3): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0002t0003others(3): Show | a0001c0001t0003g0013a0001c0001t0006g0079a0001c0002t0003g0094others(3): Show | 6 | 102 | 0.0588 | -8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116607670 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(9): Show | a0001c0001t0001g0028a0001c0001t0006g0014a0001c0001t0011g0002others(9): Show | 12 | 102 | 0.1177 | -8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116609379 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02698.hp2 HG03017.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0023 | a0001c0001t0008a0001c0002t0008a0001c0023t0002 | a0001c0001t0008g0008a0001c0001t0008g0065a0001c0002t0008g0024others(1): Show | 4 | 102 | 0.0392 | -8 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116623147 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01261.hp2 HG01496.hp1 others(4): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0002t0001others(4): Show | a0001c0001t0003g0090a0001c0001t0007g0078a0001c0002t0001g0033others(4): Show | 7 | 102 | 0.0686 | -8 | c.307 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116632150 | GAGAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG01496.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0002 | a0001c0001t0006g0079a0001c0003t0002g0044 | 2 | 102 | 0.0196 | -8 | c.307 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116660168 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0011others(5): Show | a0001c0001t0005g0096a0001c0001t0006g0014a0001c0001t0011g0002others(5): Show | 8 | 102 | 0.0784 | -8 | c.280 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116727013 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01256.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0054a0001c0001t0003g0063a0001c0001t0006g0079others(10): Show | 13 | 102 | 0.1275 | -8 | c.262 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 15/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116737467 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02922.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0007 | a0001c0001t0001g0037a0001c0003t0007g0074 | 2 | 102 | 0.0196 | -8 | c.239 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116747693 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG01261.hp1 NA18906.hp2 |
a0001 | a0001c0005a0001c0012 | a0001c0005t0005a0001c0012t0001 | a0001c0005t0005g0076a0001c0012t0001g0098 | 2 | 102 | 0.0196 | -8 | c.239 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116768313 | CTCCATCT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01081.hp1 others(17): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(13): Show | a0001c0001t0003g0090a0001c0001t0005g0035a0001c0001t0009g0086others(17): Show | 20 | 102 | 0.1961 | -8 | c.239 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116783262 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG01261.hp2 others(7): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(6): Show | a0001c0001t0001g0054a0001c0001t0011g0002a0001c0002t0001g0093others(7): Show | 10 | 102 | 0.0980 | -8 | c.239 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116790929 | TGAAAGAA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02698.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0008a0001c0007t0001 | a0001c0001t0008g0065a0001c0007t0001g0011 | 2 | 102 | 0.0196 | -8 | c.239 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116790966 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01258.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0095a0001c0001t0002g0040a0001c0001t0008g0065others(9): Show | 12 | 102 | 0.1177 | -8 | c.239 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116808277 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG01891.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0002a0001c0002t0003a0001c0003t0006others(2): Show | a0001c0002t0002g0046a0001c0002t0003g0066a0001c0003t0006g0017others(2): Show | 5 | 102 | 0.0490 | -8 | c.220 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 12/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116851471 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01169.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0100a0001c0001t0002g0051a0001c0001t0003g0013others(18): Show | 21 | 102 | 0.2059 | -8 | c.204 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116862835 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02896.hp1 NA19011.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0010 | a0001c0001t0002g0070a0001c0002t0001g0033a0001c0003t0010g0052 | 3 | 102 | 0.0294 | -8 | c.204 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116865423 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01258.hp2 HG01884.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(7): Show | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0002g0018others(8): Show | 11 | 102 | 0.1078 | -8 | c.189 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116879344 | GAGACAGA others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01243.hp2 others(19): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0015a0001c0001t0001g0037a0001c0001t0001g0099others(19): Show | 22 | 102 | 0.2157 | -8 | c.189 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar |