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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DENND4C_chr9_19225693_19379281 | 19238606 | C | CCCCCCTC others(9): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0181 | 1 | 292 | 0.0034 | 16 | c.-18 others(33): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DENND4C_chr9_19225693_19379281 | 19238607 | C | CCCCCCTC others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02027.hp2 HG02572.hp1 others(3): Show |
a0001a0012a0020 | a0001c0001a0012c0034a0020c0023 | a0001c0001t0001a0012c0034t0001a0020c0023t0010 | a0001c0001t0001g0197a0001c0001t0001g0200a0001c0001t0001g0201others(3): Show | 6 | 292 | 0.0206 | 16 | c.-18 others(33): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DENND4C_chr9_19225693_19379281 | 19328657 | G | GTCTGTCT others(9): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 292 | 0.0034 | 16 | c.225 others(33): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 16/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DENND4C_chr9_19225693_19379281 | 19356788 | T | TGTGAGAG others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02965.hp1 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0039a0002c0003t0006a0002c0003t0031 | a0001c0002t0039g0099a0002c0003t0006g0003a0002c0003t0006g0023others(1): Show | 4 | 292 | 0.0137 | 16 | c.478 others(33): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DENND4C_chr9_19225693_19379281 | 19356810 | A | AGAGAGAG others(9): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02970.hp2 HG03041.hp2 |
a0004 | a0004c0005 | a0004c0005t0011 | a0004c0005t0011g0122a0004c0005t0011g0123a0004c0005t0011g0125 | 3 | 292 | 0.0103 | 16 | c.478 others(33): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DENND5A_chr11_9133825_9270350 | 9156870 | T | TGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02630.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0189a0001c0001t0003g0141a0001c0001t0003g0142others(5): Show | 8 | 284 | 0.0282 | 16 | c.243 others(35): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 12/22 | chr11 | TogoVar | ||||||
DENND5A_chr11_9133825_9270350 | 9213808 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02622.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0191a0001c0008t0001g0200 | 2 | 284 | 0.0070 | 16 | c.110 others(33): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 1/22 | chr11 | TogoVar | ||||||
DENND5A_chr11_9133825_9270350 | 9231715 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18985.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0133a0002c0002t0002g0062 | 2 | 284 | 0.0070 | 16 | c.110 others(35): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 1/22 | chr11 | TogoVar | ||||||
DENND5A_chr11_9133825_9270350 | 9267366 | C | CTAAATAA others(9): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG02818.hp1 |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0002 | a0002c0002t0001g0097a0002c0011t0002g0203 | 2 | 284 | 0.0070 | 16 | c.-22 others(27): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 2017 | chr11 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31377391 | T | TTAAATAA others(9): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0214 | 1 | 308 | 0.0033 | 16 | c.*10 others(29): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 4834 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31449731 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0016 | a0001c0016t0039 | a0001c0016t0039g0213 | 1 | 308 | 0.0033 | 16 | c.163 others(35): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 5/20 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31494181 | T | TATCTATC others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0214 | 1 | 308 | 0.0033 | 16 | c.237 others(33): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31494191 | T | TCCACCCA others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0283 | 1 | 308 | 0.0033 | 16 | c.237 others(33): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31494199 | T | TCCACCCA others(9): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0292 | 1 | 308 | 0.0033 | 16 | c.237 others(33): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31494199 | T | TCCATCCA others(9): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01358.hp1 HG01361.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0002 | a0001c0001t0004g0276a0001c0001t0004g0277a0003c0003t0002g0173 | 3 | 308 | 0.0097 | 16 | c.237 others(33): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31497833 | A | ATGGGGAG others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(127): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0016others(31): Show | a0001c0001t0005g0125a0001c0001t0009g0054a0001c0001t0009g0057others(127): Show | 130 | 308 | 0.4221 | 16 | c.128 others(33): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
DENND5B_chr12_31377226_31596136 | 31545950 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00738.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023a0001c0001t0040 | a0001c0001t0004g0268a0001c0001t0004g0278a0001c0001t0004g0279others(11): Show | 14 | 308 | 0.0455 | 16 | c.127 others(35): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
DENND6B_chr22_50304030_50332012 | 50304588 | G | GGAACCTC others(9): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0004 | a0004c0013 | a0004c0013t0002 | a0004c0013t0002g0029 | 1 | 326 | 0.0031 | 16 | c.*75 others(27): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 4441 | chr22 | TogoVar | ||||||
DENND6B_chr22_50304030_50332012 | 50307776 | G | GGGGGAGG others(9): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 326 | 0.0031 | 16 | c.*43 others(27): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 1253 | chr22 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60603826 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 292 | 0.0034 | 16 | c.106 others(33): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 8/10 | chr5 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60613828 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 292 | 0.0034 | 16 | c.899 others(33): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 7/10 | chr5 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60634675 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02717.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0007g0081 | 3 | 292 | 0.0103 | 16 | c.898 others(33): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 7/10 | chr5 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60667881 | A | ATATATAA others(9): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 292 | 0.0034 | 16 | c.314 others(35): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60677326 | A | ACACACTC others(9): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071a0001c0001t0002g0073a0001c0001t0002g0075others(2): Show | 5 | 292 | 0.0171 | 16 | c.314 others(33): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60699443 | G | GAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02257.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0160a0001c0001t0001g0161others(8): Show | 11 | 292 | 0.0377 | 16 | c.48+ others(29): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
DEPDC4_chr12_100235062_100272079 | 100244093 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG00597.hp2 HG03130.hp1 NA19068.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0161a0001c0001t0001g0165a0001c0001t0001g0175others(1): Show | 4 | 358 | 0.0112 | 16 | c.145 others(35): Show |
DEPDC4 | ENSG00000166153.17 | transcript | ENST00000550587.6 | protein_coding | 8/9 | chr12 | TogoVar | ||||||
DEPDC4_chr12_100235062_100272079 | 100244134 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0061 | 1 | 358 | 0.0028 | 16 | c.145 others(35): Show |
DEPDC4 | ENSG00000166153.17 | transcript | ENST00000550587.6 | protein_coding | 8/9 | chr12 | TogoVar | ||||||
DEPDC5_chr22_31749019_31913033 | 31902408 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0173 | 1 | 204 | 0.0049 | 16 | c.443 others(33): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 41/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
DEPDC7_chr11_33010878_33038582 | 33030452 | C | CGATAGAT others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01109.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013a0001c0002t0002g0017a0001c0002t0002g0052others(6): Show | 16 | 422 | 0.0379 | 16 | c.783 others(31): Show |
DEPDC7 | ENSG00000121690.11 | transcript | ENST00000241051.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DEPDC7_chr11_33010878_33038582 | 33038139 | C | CTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01106.hp2 others(53): Show |
a0000a0001a0003others(1): Show | a0000c0009a0001c0001a0001c0008others(2): Show | a0000c0009t0005a0001c0001t0001a0001c0008t0001others(2): Show | a0000c0009t0005g0126a0001c0001t0001g0002a0001c0001t0001g0007others(22): Show | 56 | 422 | 0.1327 | 16 | c.*46 others(27): Show |
DEPDC7 | ENSG00000121690.11 | transcript | ENST00000241051.8 | protein_coding | 4558 | chr11 | TogoVar | ||||||
DEPDC7_chr11_33010878_33038582 | 33038153 | T | TTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 422 | 0.0024 | 16 | c.*46 others(27): Show |
DEPDC7 | ENSG00000121690.11 | transcript | ENST00000241051.8 | protein_coding | 4572 | chr11 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 119894384 | T | TTTTATTT others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp2 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0001a0003c0004others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(10): Show | a0001c0003t0001g0117a0001c0003t0001g0120a0001c0003t0001g0125others(60): Show | 63 | 198 | 0.3182 | 16 | c.122 others(35): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEPTOR_chr8_119868722_120055918 | 119894384 | T | TTTTTTTT others(9): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0182 | 1 | 198 | 0.0051 | 16 | c.122 others(35): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEPTOR_chr8_119868722_120055918 | 119900380 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02055.hp1 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0008a0001c0003t0014a0002c0001t0007others(2): Show | a0001c0003t0008g0058a0001c0003t0014g0036a0002c0001t0007g0035others(3): Show | 6 | 198 | 0.0303 | 16 | c.122 others(35): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEPTOR_chr8_119868722_120055918 | 119918938 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02683.hp1 HG03195.hp2 others(2): Show |
a0001a0005 | a0001c0003a0005c0007 | a0001c0003t0001a0001c0003t0008a0001c0003t0014others(1): Show | a0001c0003t0001g0060a0001c0003t0008g0048a0001c0003t0014g0036others(2): Show | 5 | 198 | 0.0253 | 16 | c.123 others(33): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEPTOR_chr8_119868722_120055918 | 119933453 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0098 | 1 | 198 | 0.0051 | 16 | c.425 others(33): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEPTOR_chr8_119868722_120055918 | 119985826 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0004 | a0004c0006 | a0004c0006t0009 | a0004c0006t0009g0193 | 1 | 198 | 0.0051 | 16 | c.605 others(35): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEPTOR_chr8_119868722_120055918 | 119991030 | T | TTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02735.hp1 others(4): Show |
a0002a0005 | a0002c0001a0005c0007 | a0002c0001t0003a0002c0001t0005a0002c0001t0010others(1): Show | a0002c0001t0003g0001a0002c0001t0003g0019a0002c0001t0005g0121others(4): Show | 7 | 198 | 0.0354 | 16 | c.605 others(35): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEPTOR_chr8_119868722_120055918 | 119991088 | T | TTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0114 | 1 | 198 | 0.0051 | 16 | c.605 others(35): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEPTOR_chr8_119868722_120055918 | 120002791 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0001 | a0002c0001t0010 | a0002c0001t0010g0057 | 1 | 198 | 0.0051 | 16 | c.791 others(31): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEPTOR_chr8_119868722_120055918 | 120002791 | A | AAAATATA others(9): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02717.hp1 |
a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0015a0002c0001t0003g0018 | 2 | 198 | 0.0101 | 16 | c.791 others(31): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DEPTOR_chr8_119868722_120055918 | 120022157 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 198 | 0.0051 | 16 | c.110 others(37): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DERA_chr12_15906332_16042381 | 15943705 | T | TTTTATTT others(9): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 258 | 0.0039 | 16 | c.32- others(33): Show |
DERA | ENSG00000023697.13 | transcript | ENST00000428559.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DERA_chr12_15906332_16042381 | 16029427 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 258 | 0.0039 | 16 | c.638 others(33): Show |
DERA | ENSG00000023697.13 | transcript | ENST00000428559.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DERA_chr12_15906332_16042381 | 16033581 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 258 | 0.0039 | 16 | c.750 others(31): Show |
DERA | ENSG00000023697.13 | transcript | ENST00000428559.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DERL3_chr22_23829503_23844006 | 23830649 | C | CTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 2 | 431 | 0.0046 | 16 | c.*62 others(27): Show |
DERL3 | ENSG00000099958.15 | transcript | ENST00000318109.12 | protein_coding | 3853 | chr22 | TogoVar | ||||||
DES_chr2_219413377_219431734 | 219431548 | T | TTTCCTTC others(9): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG02965.hp1 HG03486.hp2 |
a0001a0002 | a0001c0003a0002c0009 | a0001c0003t0001a0002c0009t0001 | a0001c0003t0001g0007a0001c0003t0001g0055a0002c0009t0001g0018 | 3 | 376 | 0.0080 | 16 | c.*55 others(27): Show |
DES | ENSG00000175084.13 | transcript | ENST00000373960.4 | protein_coding | 4815 | chr2 | TogoVar | ||||||
DET1_chr15_88507480_88551681 | 88522512 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00733.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0043a0001c0001t0001g0364a0001c0001t0001g0365others(38): Show | 46 | 402 | 0.1144 | 16 | c.127 others(35): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 3/4 | chr15 | TogoVar | ||||||
DET1_chr15_88507480_88551681 | 88533852 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 402 | 0.0025 | 16 | c.-10 others(33): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
DET1_chr15_88507480_88551681 | 88550553 | A | AGTTTTAA others(9): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 402 | 0.0025 | 16 | c.-40 others(27): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 3873 | chr15 | TogoVar |