| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC110_chr4_185440182_185476733 | 185471291 | C | CGGAGAGA others(244): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0202 | 1 | 428 | 0.0023 | 251 | c.11- others(264): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
| CCDC110_chr4_185440182_185476733 | 185471291 | C | CGGAGAGA others(244): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03225.hp1 NA18974.hp1 others(1): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0010 | a0002c0002t0001a0003c0003t0001a0005c0010t0001 | a0002c0002t0001g0031a0002c0002t0001g0280a0003c0003t0001g0279others(1): Show | 4 | 428 | 0.0094 | 251 | c.11- others(264): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
| CCDC110_chr4_185440182_185476733 | 185471291 | C | CGGAGAGA others(244): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0205 | 1 | 428 | 0.0023 | 251 | c.11- others(264): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
| CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(244): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 410 | 0.0024 | 251 | c.-22 others(262): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | ||||||
| CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(244): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 410 | 0.0024 | 251 | c.-22 others(262): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | ||||||
| CCDC6_chr10_59783747_59911556 | 59882049 | G | GCGGGAGA others(244): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0112 | 1 | 288 | 0.0035 | 251 | c.303 others(270): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
| CENPJ_chr13_24877279_24927861 | 24882005 | G | GATACATC others(244): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp2 NA19005.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005a0001c0002t0001g0167 | 3 | 440 | 0.0068 | 251 | c.*11 others(262): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 273 | chr13 | TogoVar | ||||||
| CENPJ_chr13_24877279_24927861 | 24882005 | G | GATACATC others(244): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 NA19074.hp1 |
a0001a0017 | a0001c0002a0017c0023 | a0001c0002t0001a0017c0023t0001 | a0001c0002t0001g0160a0017c0023t0001g0164 | 2 | 440 | 0.0046 | 251 | c.*11 others(262): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 273 | chr13 | TogoVar | ||||||
| CENPJ_chr13_24877279_24927861 | 24882027 | G | GATACATC others(244): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 440 | 0.0023 | 251 | c.*11 others(262): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 251 | chr13 | TogoVar | ||||||
| CHODL_chr21_18239833_18272370 | 18251516 | A | AAAATAAA others(244): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02280.hp2 HG02970.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0013a0001c0001t0003g0257a0001c0001t0004g0012others(5): Show | 9 | 402 | 0.0224 | 251 | c.80- others(266): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 795610 | C | CCCCCGGC others(244): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0010 | a0010c0064 | a0010c0064t0001 | a0010c0064t0001g0103 | 1 | 428 | 0.0023 | 251 | c.217 others(266): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CLEC1B_chr12_9988075_10004121 | 9996539 | T | TAGAACAA others(244): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02015.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0038 | 3 | 462 | 0.0065 | 251 | c.438 others(266): Show |
CLEC1B | ENSG00000165682.15 | transcript | ENST00000298527.11 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
| CLIC4_chr1_24740447_24849321 | 24799713 | C | CCTGCCCG others(244): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 344 | 0.0029 | 251 | c.182 others(268): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CNOT3_chr19_54132762_54160681 | 54133749 | T | TCTCTCCA others(244): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0104 | 1 | 223 | 0.0045 | 251 | c.-42 others(262): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 4012 | chr19 | TogoVar | ||||||
| CNOT6_chr5_180489379_180583358 | 180507818 | A | AAGGTGAA others(244): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00733.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0015others(8): Show | a0001c0001t0006g0008a0001c0001t0006g0122a0001c0001t0006g0123others(46): Show | 49 | 334 | 0.1467 | 251 | c.-3+ others(268): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45500771 | T | TGTTGGGT others(244): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0092 | 1 | 292 | 0.0034 | 251 | c.268 others(270): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(244): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0120 | 1 | 290 | 0.0035 | 251 | c.-11 others(266): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(244): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0196 | 1 | 290 | 0.0035 | 251 | c.-11 others(266): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| COL20A1_chr20_63288186_63339806 | 63294172 | C | CGGGGGGA others(244): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0003 | a0003c0003t0044 | a0003c0003t0044g0233 | 1 | 290 | 0.0035 | 251 | c.-11 others(266): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| COL20A1_chr20_63288186_63339806 | 63294179 | G | GAGGGGGA others(244): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0009 | a0009c0013 | a0009c0013t0002 | a0009c0013t0002g0236 | 1 | 290 | 0.0035 | 251 | c.-11 others(266): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | chr20 | TogoVar | ||||||
| COL4A1_chr13_110143963_110312157 | 110255668 | C | CAAGAAGG others(244): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0030 | 1 | 344 | 0.0029 | 251 | c.85- others(268): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| COL4A3_chr2_227159624_227319792 | 227203363 | A | ATACACAC others(244): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0020 | a0020c0050 | a0020c0050t0011 | a0020c0050t0011g0061 | 1 | 344 | 0.0029 | 251 | c.88- others(268): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COLEC11_chr2_3590112_3649644 | 3605396 | A | AGGGGGCG others(244): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp1 |
a0003 | a0003c0009a0003c0010 | a0003c0009t0001a0003c0010t0001 | a0003c0009t0001g0356a0003c0010t0001g0357 | 2 | 378 | 0.0053 | 251 | c.130 others(266): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CRTC3_chr15_90524923_90650345 | 90647359 | A | ACCCTCCT others(244): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0215 | 1 | 276 | 0.0036 | 251 | c.*52 others(262): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2015 | chr15 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3448329 | A | AAGGGAGG others(244): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01074.hp1 others(14): Show |
a0001a0002a0004others(3): Show | a0001c0003a0001c0006a0001c0017others(12): Show | a0001c0003t0008a0001c0003t0013a0001c0003t0019others(14): Show | a0001c0003t0008g0053a0001c0003t0013g0026a0001c0003t0019g0107others(14): Show | 17 | 126 | 0.1349 | 251 | c.156 others(272): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
| CTU2_chr16_88701503_88720396 | 88713216 | C | CCCCCCTT others(244): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0064 | 1 | 418 | 0.0024 | 251 | c.738 others(264): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DHRS12_chr13_51762993_51809163 | 51774418 | C | CCTACATG others(244): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0130a0001c0001t0001g0131others(3): Show | 6 | 420 | 0.0143 | 251 | c.364 others(266): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 322159 | T | TCGGGGGT others(244): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 88 | 0.0114 | 251 | c.392 others(270): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 478383 | G | GAGGGAAG others(244): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 88 | 0.0114 | 251 | c.158 others(268): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 608286 | A | ACCCCCAG others(244): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0088 | 1 | 88 | 0.0114 | 251 | c.85+ others(268): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DKK2_chr4_106916802_107041313 | 107017709 | T | TAAAAGAT others(244): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0149a0001c0001t0001g0194a0001c0001t0009g0004 | 3 | 218 | 0.0138 | 251 | c.222 others(270): Show |
DKK2 | ENSG00000155011.9 | transcript | ENST00000285311.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1385250 | A | ACCCCGGC others(244): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18906.hp1 |
a0002a0004 | a0002c0001a0004c0008 | a0002c0001t0002a0004c0008t0016 | a0002c0001t0002g0013a0004c0008t0016g0029 | 2 | 40 | 0.0500 | 251 | c.107 others(272): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1385250 | A | ACCCCGGT others(244): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | 251 | c.107 others(272): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DNAI7_chr12_25103289_25200160 | 25174371 | G | GATATATA others(244): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 336 | 0.0030 | 251 | c.22- others(268): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
| DNAJB6_chr7_157332004_157422439 | 157369650 | A | ATTATTAA others(244): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0337 | 1 | 372 | 0.0027 | 251 | c.346 others(268): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DNLZ_chr9_136354483_136368744 | 136355026 | A | AGTGACAC others(244): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0070a0001c0001t0023g0076 | 2 | 418 | 0.0048 | 251 | c.*69 others(262): Show |
DNLZ | ENSG00000213221.5 | transcript | ENST00000371738.4 | protein_coding | 4456 | chr9 | TogoVar | ||||||
| DOP1A_chr6_83062671_83173471 | 83145181 | G | GTATATAT others(244): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0254 | 1 | 298 | 0.0034 | 251 | c.554 others(268): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DOP1A_chr6_83062671_83173471 | 83145192 | A | ATATATAT others(244): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 | 1 | 298 | 0.0034 | 251 | c.554 others(268): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89634594 | T | TCCCTTCC others(244): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01071.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0003 | a0001c0001t0001g0038a0001c0001t0001g0053a0001c0001t0001g0080others(22): Show | 25 | 250 | 0.1000 | 251 | c.105 others(268): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89634596 | C | CCTTCCTT others(244): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 250 | 0.0040 | 251 | c.105 others(268): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89634737 | C | CCCTTCCT others(244): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 250 | 0.0040 | 251 | c.105 others(268): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DPYSL2_chr8_26509031_26663175 | 26556354 | A | ATATATAT others(244): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03942.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0001 | a0001c0001t0013g0154a0001c0002t0001g0156 | 2 | 316 | 0.0063 | 251 | c.355 others(270): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| EDDM13_chr19_56267748_56315454 | 56302581 | C | CTCCCTCC others(244): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 396 | 0.0025 | 251 | c.423 others(266): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | chr19 | TogoVar | ||||||
| EFCAB13_chr17_47318955_47446312 | 47325026 | C | CCCCCCCC others(244): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(6): Show |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0002a0001c0006t0003 | a0001c0006t0001g0093a0001c0006t0001g0094a0001c0006t0001g0095others(6): Show | 9 | 356 | 0.0253 | 251 | c.-24 others(268): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| EGLN1_chr1_231358756_231427287 | 231388275 | A | AAATTAAT others(244): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01192.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0170a0001c0001t0001g0178others(1): Show | 4 | 338 | 0.0118 | 251 | c.892 others(270): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110084414 | C | CATGATAT others(244): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0249 | 1 | 338 | 0.0030 | 251 | c.221 others(270): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| EPS8L1_chr19_55070869_55092923 | 55078251 | T | TGCTGGGG others(244): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0159 | 1 | 340 | 0.0029 | 251 | c.58+ others(264): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| EXPH5_chr11_108500435_108598768 | 108586609 | T | TCCCCCAC others(244): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0020 | a0020c0019 | a0020c0019t0022 | a0020c0019t0022g0092 | 1 | 314 | 0.0032 | 251 | c.119 others(268): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| FBXO17_chr19_38936401_38980742 | 38945612 | A | AGCCTGGG others(244): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0341 | 1 | 398 | 0.0025 | 251 | c.558 others(266): Show |
FBXO17 | ENSG00000269190.6 | transcript | ENST00000292852.9 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
| FKRP_chr19_46741057_46763575 | 46753337 | A | ATCCCAGC others(244): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 430 | 0.0023 | 251 | c.-39 others(268): Show |
FKRP | ENSG00000181027.11 | transcript | ENST00000318584.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |