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 | 97115205 | GAAGTT | G | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 147 | 0.0068 | -5 | c.258 others(22): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 21/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97129089 | ATCTTT | A | intron_variant | MODIFIER | HG01891.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022 | a0001c0001t0004g0137a0001c0001t0022g0112 | 2 | 147 | 0.0136 | -5 | c.259 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97158340 | ATTGTC | A | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01106.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0142a0001c0001t0002g0004a0001c0001t0002g0011others(10): Show | 13 | 147 | 0.0884 | -5 | c.271 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97162922 | CTGATA | C | intron_variant | MODIFIER | NA18940.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092a0001c0001t0001g0096 | 2 | 147 | 0.0136 | -5 | c.271 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97169876 | TAAGAC | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0009 | 2 | 147 | 0.0136 | -5 | c.271 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97174079 | TTATAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01071.hp2 others(33): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0031a0001c0001t0001g0033others(33): Show | 36 | 147 | 0.2449 | -5 | c.271 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97176505 | GTTTGT | G | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00738.hp1 others(50): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0014a0001c0001t0001g0031a0001c0001t0001g0042others(50): Show | 53 | 147 | 0.3605 | -5 | c.271 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97192310 | AAAAAG | A | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01891.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0014a0001c0001t0001g0068a0001c0001t0001g0082others(14): Show | 17 | 147 | 0.1157 | -5 | c.271 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97254698 | ATTTAT | A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0143 | 1 | 147 | 0.0068 | -5 | c.284 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97254722 | ATTTAT | A | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0003 | a0001c0001t0017g0086a0001c0003t0003g0081a0001c0003t0003g0145 | 3 | 147 | 0.0204 | -5 | c.284 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97266751 | TTTTTA | T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 147 | 0.0068 | -5 | c.284 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97297076 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(36): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0019a0001c0001t0001g0027a0001c0001t0001g0033others(36): Show | 39 | 147 | 0.2653 | -5 | c.284 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97300961 | AAAAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG01433.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0016 | a0001c0001t0001g0057a0001c0001t0014g0012a0001c0001t0016g0125 | 3 | 147 | 0.0204 | -5 | c.284 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97325543 | GTTATT | G | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00673.hp1 others(66): Show |
a0001a0002a0003 | a0001c0001a0002c0006a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0018a0001c0001t0001g0023a0001c0001t0001g0024others(66): Show | 69 | 147 | 0.4694 | -5 | c.284 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97331223 | GAAAGA | G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0140 | 1 | 147 | 0.0068 | -5 | c.284 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97369435 | ATTGCC | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(48): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0019a0001c0001t0001g0027a0001c0001t0001g0033others(48): Show | 51 | 147 | 0.3469 | -5 | c.301 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 24/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97437478 | CATATG | C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0143 | 1 | 147 | 0.0068 | -5 | c.324 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97441824 | TAAATA | T | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 147 | 0.0068 | -5 | c.324 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97499780 | CTTTAA | C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0143 | 1 | 147 | 0.0068 | -5 | c.324 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97545532 | AAATAT | A | intron_variant | MODIFIER | HG03540.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0055a0001c0001t0012g0003 | 2 | 147 | 0.0136 | -5 | c.324 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97545534 | ATATAT | A | intron_variant | MODIFIER | HG02647.hp1 HG04204.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0027a0001c0001t0001g0060a0001c0001t0001g0093others(1): Show | 4 | 147 | 0.0272 | -5 | c.324 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97570105 | TATATA | T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 147 | 0.0068 | -5 | c.324 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97570115 | TATATA | T | intron_variant | MODIFIER | HG01952.hp1 HG02602.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0033others(3): Show | 6 | 147 | 0.0408 | -5 | c.324 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97570123 | TTAGAA | T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 147 | 0.0068 | -5 | c.324 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59692137 | CTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01070.hp1 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0061others(42): Show | 45 | 208 | 0.2164 | -5 | c.332 others(26): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59714359 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(101): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0078a0001c0001t0001g0115a0001c0001t0001g0147others(101): Show | 104 | 208 | 0.5000 | -5 | c.332 others(26): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59718234 | AAAAAG | A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01928.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0002c0009others(1): Show | a0001c0001t0001a0002c0004t0001a0002c0004t0002others(2): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(13): Show | 16 | 208 | 0.0769 | -5 | c.332 others(26): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59834021 | CATTAG | C | intron_variant | MODIFIER | HG00323.hp1 HG01261.hp1 HG01978.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0004a0001c0006t0002a0002c0003t0002 | a0001c0001t0004g0006a0001c0006t0002g0066a0002c0003t0002g0037others(10): Show | 13 | 208 | 0.0625 | -5 | c.286 others(22): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 23/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59881152 | ATATAT | A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0020a0001c0001t0003g0021others(3): Show | 6 | 208 | 0.0289 | -5 | c.236 others(24): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 20/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59950137 | TTTTAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(84): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0121others(84): Show | 87 | 208 | 0.4183 | -5 | c.207 others(26): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 17/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59971331 | GAATAT | G | intron_variant | MODIFIER | HG03491.hp2 HG04184.hp2 |
a0004 | a0004c0007 | a0004c0007t0002a0004c0007t0006 | a0004c0007t0002g0050a0004c0007t0006g0174 | 2 | 208 | 0.0096 | -5 | c.165 others(22): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 15/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60014969 | TTTTTG | T | intron_variant | MODIFIER | HG02615.hp1 HG03654.hp2 HG04199.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0152a0001c0001t0001g0167a0001c0001t0006g0087others(1): Show | 4 | 208 | 0.0192 | -5 | c.771 others(20): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 7/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60151166 | GAACTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00609.hp2 others(14): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0006t0002a0002c0003t0002others(1): Show | a0001c0001t0001g0115a0001c0001t0001g0147a0001c0001t0001g0148others(14): Show | 17 | 208 | 0.0817 | -5 | c.180 others(24): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | ||||||
DICER1_chr14_95081228_95162529 | 95096965 | TTTAAG | T | intron_variant | MODIFIER | HG00597.hp2 HG01261.hp1 HG01346.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0023others(21): Show | 29 | 306 | 0.0948 | -5 | c.420 others(22): Show |
DICER1 | ENSG00000100697.17 | transcript | ENST00000343455.8 | protein_coding | 22/26 | chr14 | TogoVar | ||||||
DICER1_chr14_95081228_95162529 | 95155589 | CAGCAG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(172): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(32): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0012others(134): Show | 175 | 306 | 0.5719 | -5 | c.-46 others(22): Show |
DICER1 | ENSG00000100697.17 | transcript | ENST00000343455.8 | protein_coding | 1/26 | chr14 | TogoVar | ||||||
DICER1_chr14_95081228_95162529 | 95156180 | TCCTAA | T | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 NA20129.hp1 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0049a0001c0005t0004g0050a0001c0005t0004g0051 | 3 | 306 | 0.0098 | -5 | c.-46 others(22): Show |
DICER1 | ENSG00000100697.17 | transcript | ENST00000343455.8 | protein_coding | 1/26 | chr14 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62904780 | CAAAAA | C | intron_variant | MODIFIER | HG02148.hp2 HG02572.hp2 HG02630.hp1 others(4): Show |
a0001a0003 | a0001c0009a0003c0003a0003c0042others(1): Show | a0001c0009t0001a0003c0003t0001a0003c0042t0001others(1): Show | a0001c0009t0001g0024a0003c0003t0001g0219a0003c0003t0001g0221others(3): Show | 7 | 320 | 0.0219 | -5 | c.158 others(24): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 6/15 | chr20 | TogoVar | ||||||
DIMT1_chr5_62382254_62408905 | 62383229 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00741.hp1 HG01069.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0003g0002a0001c0001t0003g0003a0001c0001t0003g0008others(33): Show | 69 | 404 | 0.1708 | -5 | c.*57 others(16): Show |
DIMT1 | ENSG00000086189.11 | transcript | ENST00000199320.9 | protein_coding | 4024 | chr5 | TogoVar | ||||||
DIMT1_chr5_62382254_62408905 | 62394715 | GATTAT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(96): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0013 | a0001c0001t0002g0004a0001c0001t0002g0011a0001c0001t0002g0014others(71): Show | 99 | 404 | 0.2451 | -5 | c.447 others(20): Show |
DIMT1 | ENSG00000086189.11 | transcript | ENST00000199320.9 | protein_coding | 6/11 | chr5 | TogoVar | ||||||
DIO1_chr1_53889187_53916086 | 53896210 | CTTTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG01884.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0068others(6): Show | 10 | 452 | 0.0221 | -5 | c.337 others(22): Show |
DIO1 | ENSG00000211452.12 | transcript | ENST00000361921.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46464817 | CTTTTT | C | intron_variant | MODIFIER | HG01515.hp2 HG02523.hp2 HG02886.hp2 others(7): Show |
a0001 | a0001c0003a0001c0005a0001c0008others(2): Show | a0001c0003t0003a0001c0005t0003a0001c0005t0004others(3): Show | a0001c0003t0003g0338a0001c0005t0003g0322a0001c0005t0004g0275others(7): Show | 10 | 374 | 0.0267 | -5 | c.91+ others(20): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46486091 | AGAACT | A | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01099.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(5): Show | a0001c0001t0002g0140a0001c0001t0013g0136a0001c0001t0013g0137others(13): Show | 16 | 374 | 0.0428 | -5 | c.163 others(22): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 2/37 | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46495179 | TTTCTC | T | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01071.hp1 others(32): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0009others(12): Show | a0001c0001t0002g0226a0001c0001t0002g0262a0001c0001t0002g0264others(32): Show | 35 | 374 | 0.0936 | -5 | c.284 others(22): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46503612 | CTTTCT | C | intron_variant | MODIFIER | HG01109.hp2 HG02922.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0008a0001c0005t0020 | a0001c0005t0004g0278a0001c0005t0004g0287a0001c0005t0008g0002others(1): Show | 4 | 374 | 0.0107 | -5 | c.656 others(20): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46506723 | TTTTTC | T | intron_variant | MODIFIER | HG01433.hp1 HG02647.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0001a0001c0004t0001a0001c0005t0004others(1): Show | a0001c0002t0001g0048a0001c0002t0001g0062a0001c0004t0001g0052others(3): Show | 6 | 374 | 0.0160 | -5 | c.784 others(22): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46524872 | CTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02451.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0011a0001c0005t0008a0001c0005t0020others(5): Show | a0001c0001t0011g0368a0001c0001t0011g0369a0001c0005t0008g0002others(9): Show | 12 | 374 | 0.0321 | -5 | c.110 others(24): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46528527 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG01993.hp1 HG02572.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0009a0002c0011others(1): Show | a0001c0001t0002a0002c0009t0006a0002c0011t0016others(2): Show | a0001c0001t0002g0222a0002c0009t0006g0183a0002c0009t0006g0186others(5): Show | 8 | 374 | 0.0214 | -5 | c.110 others(22): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46573645 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01256.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0027others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(6): Show | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0004g0213others(12): Show | 15 | 374 | 0.0401 | -5 | c.*60 others(16): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3631 | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50722253 | GTTTAT | G | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG02922.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0006a0001c0001t0037a0001c0001t0044others(2): Show | a0001c0001t0006g0106a0001c0001t0037g0269a0001c0001t0044g0270others(5): Show | 8 | 284 | 0.0282 | -5 | c.316 others(22): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50730378 | CTCTCT | C | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG01106.hp1 others(39): Show |
a0001a0006 | a0001c0001a0001c0021a0006c0017 | a0001c0001t0001a0001c0001t0014a0001c0001t0031others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0114others(39): Show | 42 | 284 | 0.1479 | -5 | c.364 others(22): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |