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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIAPH2_chrX_96679842_97609997 | 97185474 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0042a0001c0001t0009g0036 | 2 | 147 | 0.0136 | -8 | c.271 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97245305 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp1 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0081a0001c0003t0003g0145 | 2 | 147 | 0.0136 | -8 | c.272 others(27): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97263556 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(42): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0019a0001c0001t0001g0027a0001c0001t0001g0033others(42): Show | 45 | 147 | 0.3061 | -8 | c.284 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97263900 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0016 | 1 | 147 | 0.0068 | -8 | c.284 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97274006 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0030a0001c0001t0002g0039a0001c0001t0002g0046others(2): Show | 5 | 147 | 0.0340 | -8 | c.284 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97300931 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02717.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0142a0001c0002t0001g0015 | 2 | 147 | 0.0136 | -8 | c.284 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97300958 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG03688.hp1 HG04228.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0104a0001c0001t0001g0120a0001c0005t0001g0061 | 3 | 147 | 0.0204 | -8 | c.284 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97329891 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG01891.hp2 HG01928.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0042a0001c0001t0002g0022others(8): Show | 11 | 147 | 0.0748 | -8 | c.284 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97384868 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 147 | 0.0068 | -8 | c.314 others(25): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97476984 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0144 | 1 | 147 | 0.0068 | -8 | c.324 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97477018 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 147 | 0.0068 | -8 | c.324 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97500763 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00642.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0019a0001c0001t0001g0033a0001c0001t0001g0035others(45): Show | 48 | 147 | 0.3265 | -8 | c.324 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97507141 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 147 | 0.0068 | -8 | c.324 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97509012 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0001 | a0001c0001t0003g0085a0001c0004t0001g0140 | 2 | 147 | 0.0136 | -8 | c.324 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97588996 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 147 | 0.0068 | -8 | c.324 others(29): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH3_chr13_59660583_60168928 | 59776929 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG02074.hp2 others(13): Show |
a0001 | a0001c0001a0001c0006a0001c0014 | a0001c0001t0001a0001c0001t0009a0001c0006t0002others(1): Show | a0001c0001t0001g0115a0001c0001t0001g0119a0001c0001t0001g0147others(13): Show | 16 | 208 | 0.0769 | -8 | c.316 others(27): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59799375 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG02040.hp2 HG03710.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0002c0003t0002 | a0001c0001t0001g0034a0001c0001t0006g0109a0002c0003t0002g0037others(2): Show | 5 | 208 | 0.0240 | -8 | c.316 others(29): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59812248 | GCATCCAT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(29): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0115a0001c0001t0001g0119a0001c0001t0001g0145others(29): Show | 32 | 208 | 0.1539 | -8 | c.302 others(27): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 24/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59898155 | AAGAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02129.hp2 HG02132.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0002 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(8): Show | 11 | 208 | 0.0529 | -8 | c.236 others(29): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 20/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59948840 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00639.hp2 others(38): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0122a0001c0001t0001g0145a0001c0001t0001g0154others(38): Show | 41 | 208 | 0.1971 | -8 | c.207 others(29): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 17/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59998549 | TAAATGAA others(1): Show |
T | intron_variant | MODIFIER | NA18969.hp2 NA18983.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0190a0001c0002t0001g0191a0001c0002t0001g0192others(1): Show | 4 | 208 | 0.0192 | -8 | c.101 others(27): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 9/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60030320 | TACTTAGG others(1): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128a0001c0001t0002g0129a0001c0001t0002g0130others(1): Show | 4 | 208 | 0.0192 | -8 | c.626 others(27): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 5/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60083907 | AGATGGAT others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01070.hp2 others(45): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0078a0001c0001t0001g0143a0001c0001t0001g0165others(45): Show | 48 | 208 | 0.2308 | -8 | c.495 others(25): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 4/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60084007 | CAGATAGA others(1): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01099.hp2 HG01106.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0060a0001c0001t0001g0085a0001c0001t0002g0032others(27): Show | 30 | 208 | 0.1442 | -8 | c.495 others(25): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 4/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60099907 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01070.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0121a0001c0001t0001g0145a0001c0001t0001g0154others(28): Show | 31 | 208 | 0.1490 | -8 | c.391 others(25): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 3/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60104566 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01884.hp2 HG01928.hp1 others(18): Show |
a0002a0008 | a0002c0003a0002c0004a0002c0009others(1): Show | a0002c0003t0002a0002c0004t0001a0002c0004t0002others(3): Show | a0002c0003t0002g0037a0002c0003t0002g0038a0002c0003t0002g0044others(18): Show | 21 | 208 | 0.1010 | -8 | c.390 others(25): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 3/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60156939 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(43): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0125others(43): Show | 46 | 208 | 0.2212 | -8 | c.180 others(25): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60162807 | TCTCACAC others(1): Show |
T | intron_variant | MODIFIER | HG01981.hp2 HG02132.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(1): Show | 4 | 208 | 0.0192 | -8 | c.180 others(23): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62904780 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(95): Show |
a0001a0003a0012others(6): Show | a0001c0001a0001c0009a0001c0012others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(77): Show | 98 | 320 | 0.3063 | -8 | c.158 others(27): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 6/15 | chr20 | TogoVar | ||||||
DIMT1_chr5_62382254_62408905 | 62407020 | AGAAGGAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(139): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0078a0001c0001t0002g0029a0001c0001t0002g0034others(74): Show | 142 | 404 | 0.3515 | -8 | c.-32 others(19): Show |
DIMT1 | ENSG00000086189.11 | transcript | ENST00000199320.9 | protein_coding | 3116 | chr5 | TogoVar | ||||||
DIO1_chr1_53889187_53916086 | 53900982 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01081.hp1 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0029a0001c0002t0001g0030a0001c0002t0001g0031others(24): Show | 30 | 452 | 0.0664 | -8 | c.338 others(25): Show |
DIO1 | ENSG00000211452.12 | transcript | ENST00000361921.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46463680 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG01515.hp2 HG01975.hp1 others(6): Show |
a0001 | a0001c0004a0001c0005a0001c0010 | a0001c0004t0001a0001c0005t0004a0001c0005t0021others(1): Show | a0001c0004t0001g0104a0001c0004t0001g0120a0001c0004t0001g0121others(6): Show | 9 | 374 | 0.0241 | -8 | c.91+ others(23): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46486088 | AAAAGAAC others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01257.hp2 others(28): Show |
a0001a0003 | a0001c0006a0001c0012a0001c0013others(5): Show | a0001c0006t0001a0001c0006t0004a0001c0006t0007others(9): Show | a0001c0006t0001g0178a0001c0006t0001g0180a0001c0006t0004g0145others(28): Show | 31 | 374 | 0.0829 | -8 | c.163 others(25): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46503568 | ATTTCTTC others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01884.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0103a0001c0001t0002g0096a0001c0001t0004g0053others(23): Show | 26 | 374 | 0.0695 | -8 | c.656 others(23): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46506724 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01928.hp2 HG01975.hp2 HG01993.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0036 | a0001c0001t0002a0001c0004t0002a0001c0036t0002 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0224others(3): Show | 6 | 374 | 0.0160 | -8 | c.784 others(25): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46519855 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02486.hp2 others(8): Show |
a0001a0002a0005 | a0001c0005a0002c0009a0002c0038others(1): Show | a0001c0005t0008a0001c0005t0017a0002c0009t0006others(2): Show | a0001c0005t0008g0005a0001c0005t0008g0006a0001c0005t0008g0007others(8): Show | 11 | 374 | 0.0294 | -8 | c.110 others(27): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50536271 | GCATACAT others(1): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG03492.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0168 | 3 | 284 | 0.0106 | -8 | c.100 others(27): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50623392 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00741.hp1 others(12): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0001a0001c0001t0005a0001c0003t0002others(1): Show | a0001c0001t0001g0132a0001c0001t0001g0149a0001c0001t0001g0152others(12): Show | 15 | 284 | 0.0528 | -8 | c.101 others(25): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50623431 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(22): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0035others(3): Show | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0125others(22): Show | 25 | 284 | 0.0880 | -8 | c.101 others(25): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50623437 | ACTCTCTC others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0037 | a0001c0001t0007g0007a0001c0001t0007g0009a0001c0001t0037g0269 | 3 | 284 | 0.0106 | -8 | c.101 others(25): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50643405 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00673.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0025others(6): Show | a0001c0001t0001g0025a0001c0001t0008g0182a0001c0001t0025g0077others(41): Show | 44 | 284 | 0.1549 | -8 | c.301 others(25): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50694504 | AATACATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00597.hp2 others(64): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0036others(15): Show | a0001c0001t0001g0059a0001c0001t0006g0104a0001c0001t0006g0105others(64): Show | 67 | 284 | 0.2359 | -8 | c.172 others(25): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50716958 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0005a0001c0001t0007g0006a0001c0001t0007g0007others(3): Show | 6 | 284 | 0.0211 | -8 | c.285 others(27): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 414884 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG02071.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004a0001c0019 | a0001c0003t0002a0001c0004t0001a0001c0019t0006 | a0001c0003t0002g0021a0001c0003t0002g0032a0001c0003t0002g0053others(5): Show | 8 | 88 | 0.0909 | -8 | c.860 others(23): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 7/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 424355 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00621.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(17): Show | a0001c0001t0002g0004a0001c0001t0002g0025a0001c0002t0001g0031others(38): Show | 41 | 88 | 0.4659 | -8 | c.395 others(25): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 4/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 516381 | GGGGGGGA others(1): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG02602.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0003a0001c0002t0003a0001c0005t0001others(2): Show | a0001c0001t0003g0075a0001c0002t0003g0082a0001c0005t0001g0009others(2): Show | 5 | 88 | 0.0568 | -8 | c.86- others(25): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 548911 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01099.hp2 HG01258.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0003g0012others(12): Show | 15 | 88 | 0.1705 | -8 | c.86- others(25): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 608302 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG02071.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028a0001c0002t0001g0031 | 2 | 88 | 0.0227 | -8 | c.85+ others(25): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIPK1A_chr1_92837167_92966462 | 92870073 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01169.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0003g0034others(1): Show | 4 | 200 | 0.0200 | -8 | c.189 others(25): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
DIPK1C_chr18_74429775_74462308 | 74461336 | CTTCCTTC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG02257.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0243a0001c0001t0003g0278others(5): Show | 9 | 484 | 0.0186 | -8 | c.-40 others(19): Show |
DIPK1C | ENSG00000187773.9 | transcript | ENST00000343998.8 | protein_coding | 4029 | chr18 | TogoVar |