view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DOK5_chr20_54470593_54656169 | 54534819 | G | GTTTCTTT others(45): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0119 | 1 | 130 | 0.0077 | 52 | c.67- others(69): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69617725 | A | AAGAAAGA others(45): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0064 a0001c0001t0020g0032 |
2 | 170 | 0.0118 | 52 | c.289 others(71): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476209 | T | TGATGCCC others(45): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 HG02818.hp1 others(2): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0013 | a0001c0001t0021a0003c0003t0004a0003c0003t0033others(2): Show | a0001c0001t0021g0087 a0003c0003t0004g0047 a0003c0003t0033g0086 others(2): Show |
5 | 404 | 0.0124 | 52 | c.332 others(67): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476255 | C | CGCCCGTG others(45): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02818.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0021a0003c0003t0033 | a0001c0001t0021g0087 a0003c0003t0033g0086 |
2 | 404 | 0.0050 | 52 | c.332 others(65): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476273 | A | ACCCCACC others(45): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01099.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(3): Show | a0001c0001t0002g0298 a0001c0001t0005g0038 a0001c0001t0005g0112 others(10): Show |
13 | 404 | 0.0322 | 52 | c.332 others(65): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476318 | C | CCCTCTCA others(45): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0047 | 1 | 404 | 0.0025 | 52 | c.332 others(65): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619557 | T | TCCCCTCC others(45): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0105 | 1 | 250 | 0.0040 | 52 | c.-10 others(71): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP2NB_chr16_68008436_68020911 | 68020864 | T | TATATATA others(45): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0016 |
2 | 362 | 0.0055 | 52 | c.-50 others(63): Show |
DPEP2NB | ENSG00000263201.1 | transcript | ENST00000574912.1 | protein_coding | 4954 | chr16 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72884953 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0092 | 1 | 234 | 0.0043 | 52 | c.32+ others(67): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
DPH1_chr17_2025153_2048898 | 2047925 | G | GGGGGGGG others(45): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 392 | 0.0026 | 52 | c.*53 others(63): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 4028 | chr17 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567287 | G | GTGAGGAA others(45): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 340 | 0.0029 | 52 | c.641 others(69): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567465 | G | GTGAGGAA others(45): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 340 | 0.0029 | 52 | c.641 others(69): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154654406 | T | TATCTATC others(45): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0021 | a0001c0021t0011 | a0001c0021t0011g0022 | 1 | 38 | 0.0263 | 52 | c.681 others(71): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 6/25 | chr7 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154749087 | A | AGGCTTTA others(45): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0021 | a0001c0021t0011 | a0001c0021t0011g0022 | 1 | 38 | 0.0263 | 52 | c.884 others(71): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154749231 | G | GGAGAGGG others(45): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02922.hp1 HG02965.hp2 others(2): Show |
a0001a0002 | a0001c0015a0001c0018a0001c0020others(2): Show | a0001c0015t0017a0001c0018t0009a0001c0020t0001others(2): Show | a0001c0015t0017g0036 a0001c0018t0009g0023 a0001c0020t0001g0010 others(2): Show |
5 | 38 | 0.1316 | 52 | c.884 others(71): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154749501 | A | AGGCTTTA others(45): Show |
intron_variant | MODIFIER | HG01952.hp2 HG01978.hp1 HG02083.hp1 others(6): Show |
a0001a0002 | a0001c0003a0001c0015a0001c0020others(6): Show | a0001c0003t0008a0001c0015t0017a0001c0020t0001others(6): Show | a0001c0003t0008g0025 a0001c0015t0017g0036 a0001c0020t0001g0010 others(6): Show |
9 | 38 | 0.2368 | 52 | c.884 others(71): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154749511 | G | GAGAGAGG others(45): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01978.hp2 HG02040.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0025a0002c0004others(2): Show | a0001c0001t0005a0001c0025t0001a0002c0004t0004others(3): Show | a0001c0001t0005g0032 a0001c0025t0001g0018 a0002c0004t0004g0008 others(3): Show |
6 | 38 | 0.1579 | 52 | c.884 others(71): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154749535 | C | CAGGAGGG others(45): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0015 | 1 | 38 | 0.0263 | 52 | c.884 others(71): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 8/25 | chr7 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154749928 | C | CGAGGGTG others(45): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0021 | a0001c0021t0011 | a0001c0021t0011g0022 | 1 | 38 | 0.0263 | 52 | c.884 others(71): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP9_chr19_4670227_4728842 | 4672159 | A | ATATATAT others(45): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 314 | 0.0032 | 52 | c.*44 others(63): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 3067 | chr19 | TogoVar | |||||||
DPY19L2_chr12_63553913_63673493 | 63556118 | A | ATATATAT others(45): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 NA20129.hp1 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0001a0002c0002t0002 | a0001c0005t0001g0336 a0002c0002t0002g0002 |
2 | 362 | 0.0055 | 52 | c.*43 others(63): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 2794 | chr12 | TogoVar | |||||||
DPY19L2_chr12_63553913_63673493 | 63592011 | G | GAGGGGAG others(45): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 362 | 0.0028 | 52 | c.158 others(71): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 16/21 | chr12 | TogoVar | |||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0073 | 1 | 232 | 0.0043 | 52 | c.669 others(67): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DR1_chr1_93340907_93374493 | 93344857 | T | TTATATAT others(45): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0111 | 1 | 360 | 0.0028 | 52 | c.-17 others(63): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 1049 | chr1 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76498810 | G | GGGGGTGT others(45): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03540.hp2 NA19043.hp1 |
a0002a0023 | a0002c0012a0023c0041 | a0002c0012t0003a0023c0041t0003 | a0002c0012t0003g0264 a0002c0012t0003g0265 a0023c0041t0003g0263 |
3 | 280 | 0.0107 | 52 | c.115 others(71): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DUS2_chr16_68018284_68084320 | 68020864 | T | TATATATA others(45): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0144 |
2 | 234 | 0.0086 | 52 | c.-25 others(63): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 2419 | chr16 | TogoVar | |||||||
DUSP8_chr11_1549051_1577271 | 1551012 | T | TTCATCCC others(45): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 NA19012.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0105 |
3 | 367 | 0.0082 | 52 | c.*55 others(63): Show |
DUSP8 | ENSG00000184545.11 | transcript | ENST00000397374.8 | protein_coding | 3038 | chr11 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172071 | G | GGGGGCGC others(45): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0320 |
2 | 446 | 0.0045 | 52 | c.-46 others(63): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4587 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172139 | C | CGGGGCGC others(45): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 446 | 0.0022 | 52 | c.-46 others(63): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4655 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172207 | C | CGGGGCGC others(45): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0364 | 1 | 446 | 0.0022 | 52 | c.-47 others(63): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4723 | chr19 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440354 | G | GTATATGA others(45): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18946.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 |
3 | 290 | 0.0103 | 52 | c.-53 others(69): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440361 | A | ATATATAA others(45): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0262 | 1 | 290 | 0.0035 | 52 | c.-53 others(69): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49440973 | A | ATATATAA others(45): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03710.hp2 HG03942.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 others(3): Show |
6 | 290 | 0.0207 | 52 | c.-53 others(71): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49441056 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0006g0158 |
3 | 290 | 0.0103 | 52 | c.-53 others(71): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26005486 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG03139.hp2 HG06807.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0013 | a0001c0001t0002g0016 a0001c0001t0006g0214 a0001c0002t0013g0015 |
3 | 220 | 0.0136 | 52 | c.551 others(71): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69645582 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072 a0001c0001t0002g0071 |
2 | 226 | 0.0089 | 52 | c.396 others(71): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69645584 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0179 | 1 | 226 | 0.0044 | 52 | c.396 others(71): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69645584 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 HG03017.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0097 a0001c0001t0001g0189 a0001c0001t0002g0050 others(3): Show |
6 | 226 | 0.0266 | 52 | c.396 others(71): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69645584 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01123.hp2 HG01256.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0084 others(16): Show |
19 | 226 | 0.0841 | 52 | c.396 others(71): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69655762 | C | CTATATAT others(45): Show |
intron_variant | MODIFIER | HG02896.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0028 a0001c0001t0014g0027 |
2 | 226 | 0.0089 | 52 | c.396 others(71): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89929031 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0211 | 1 | 284 | 0.0035 | 52 | c.410 others(69): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89929031 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02004.hp1 NA18943.hp1 NA18945.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0182 a0001c0002t0003g0197 a0001c0002t0003g0198 others(6): Show |
9 | 284 | 0.0317 | 52 | c.410 others(69): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43526930 | G | GGGCGCTG others(45): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02615.hp2 others(8): Show |
a0001a0002a0019others(2): Show | a0001c0001a0002c0002a0019c0032others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0083 a0001c0001t0002g0006 a0001c0001t0002g0007 others(8): Show |
11 | 290 | 0.0379 | 52 | c.*19 others(63): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 1847 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43784672 | T | TATACACA others(45): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0265 | 1 | 290 | 0.0035 | 52 | c.-7- others(67): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | |||||||
EFEMP1_chr2_55860967_55928782 | 55865188 | A | AATATATA others(45): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 350 | 0.0029 | 52 | c.*18 others(63): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 778 | chr2 | TogoVar | |||||||
EFHC1_chr6_52415342_52502198 | 52493373 | T | TATATATA others(45): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0010 | a0001c0010t0052 | a0001c0010t0052g0207 | 1 | 396 | 0.0025 | 52 | c.*10 others(63): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 11/11 | 1045 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EFNA2_chr19_1280873_1306431 | 1282510 | A | AGGAGGGA others(45): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 2 | 294 | 0.0068 | 52 | c.-36 others(63): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3362 | chr19 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107476046 | C | CTATATAT others(45): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0154 | 1 | 190 | 0.0053 | 52 | c.126 others(71): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EGFL7_chr9_136657916_136677678 | 136671087 | G | GGGCAGGC others(45): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18940.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 a0002c0002t0001g0142 |
2 | 432 | 0.0046 | 52 | c.636 others(66): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EGFL7_chr9_136657916_136677678 | 136671235 | G | GGGCAGGC others(45): Show |
intron_variant | MODIFIER | NA20752.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0114 |
2 | 432 | 0.0046 | 52 | c.636 others(67): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |