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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MEGF6_chr1_3482951_3616508 | 3502045 | C | CCCCCACA others(1785): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0021 | a0021c0072 | a0021c0072t0013 | a0021c0072t0013g0252 | 1 | 277 | 0.0036 | 1792 | c.218 others(1809): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952250 | G | AGTCAGAC others(1785): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 164 | 0.0061 | 1792 | c.360 others(1811): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1785): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 217 | 0.0046 | 1792 | c.-93 others(1809): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325070 | G | GGGGGGCG others(1785): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 71 | 0.0141 | 1792 | c.531 others(1809): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
THEG_chr19_356747_381026 | 360787 | T | CGACGGTC others(1785): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 261 | 0.0038 | 1792 | c.*14 others(1803): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 960 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 361388 | G | GAGCGTCG others(1785): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0010 | a0003c0010t0044 | a0003c0010t0044g0138 | 1 | 367 | 0.0027 | 1792 | c.*81 others(1801): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 358 | chr19 | TogoVar | |||||||
WDR7_chr18_56646359_57034792 | 57024900 | A | ACTATGAT others(1785): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 72 | 0.0139 | 1792 | c.427 others(1811): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(1786): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 158 | 0.0063 | 1793 | c.564 others(1808): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
CLCNKB_chr1_16038782_16062308 | 16040820 | C | CCCCCCCC others(1786): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0006 | a0006c0005 | a0006c0005t0006 | a0006c0005t0006g0032 | 1 | 426 | 0.0023 | 1793 | c.-30 others(1804): Show |
CLCNKB | ENSG00000184908.20 | transcript | ENST00000375679.9 | protein_coding | 2961 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500999 | T | TGTTGGGT others(1786): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0066 | a0001c0066t0005 | a0001c0066t0005g0036 | 1 | 286 | 0.0035 | 1793 | c.268 others(1812): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
GRIK4_chr11_120506748_120993906 | 120876376 | T | TCACCACC others(1786): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0008 | a0002c0008t0006 | a0002c0008t0006g0105 | 1 | 3 | 0.3333 | 1793 | c.116 others(1812): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323558 | G | GTGTGTGT others(1786): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0085 | 1 | 150 | 0.0067 | 1793 | c.-47 others(1804): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4763 | chrX | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1786): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0119 | 1 | 95 | 0.0105 | 1793 | c.*11 others(1814): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28189245 | G | GAGGAAGT others(1786): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 54 | 0.0185 | 1793 | c.-36 others(1814): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1786): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0060 | a0060c0083 | a0060c0083t0001 | a0060c0083t0001g0033 | 1 | 32 | 0.0313 | 1793 | c.218 others(1808): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1786): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0130 | a0002c0130t0001 | a0002c0130t0001g0024 | 1 | 12 | 0.0833 | 1793 | c.228 others(1810): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1786): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 a0002c0002t0001g0228 |
2 | 13 | 0.1538 | 1793 | c.228 others(1810): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1786): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0012 | a0012c0118 | a0012c0118t0001 | a0012c0118t0001g0142 | 1 | 12 | 0.0833 | 1793 | c.228 others(1810): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1786): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0046 | 1 | 12 | 0.0833 | 1793 | c.228 others(1810): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1786): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0252 | 1 | 12 | 0.0833 | 1793 | c.228 others(1810): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1786): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0102 | a0004c0102t0001 | a0004c0102t0001g0208 | 1 | 12 | 0.0833 | 1793 | c.228 others(1810): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1786): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01975.hp1 HG01981.hp1 others(11): Show |
a0001a0004a0005others(4): Show | a0001c0003a0001c0005a0001c0072others(9): Show | a0001c0003t0001a0001c0005t0001a0001c0072t0001others(9): Show | a0001c0003t0001g0068 a0001c0005t0001g0033 a0001c0072t0001g0130 others(11): Show |
14 | 25 | 0.5600 | 1793 | c.228 others(1810): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1786): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0151 | 1 | 12 | 0.0833 | 1793 | c.228 others(1810): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1786): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02559.hp2 |
a0004 | a0004c0105a0004c0120 | a0004c0105t0001a0004c0120t0001 | a0004c0105t0001g0226 a0004c0120t0001g0174 |
2 | 13 | 0.1538 | 1793 | c.228 others(1810): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1786): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0090 | 1 | 12 | 0.0833 | 1793 | c.228 others(1810): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(1786): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 154 | 0.0065 | 1793 | c.360 others(1812): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237783 | A | AATACTAT others(1786): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 312 | 0.0032 | 1793 | c.-15 others(1804): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1502 | chr14 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1787): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02895.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0121 |
3 | 18 | 0.1667 | 1794 | c.164 others(1813): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1787): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 16 | 0.0625 | 1794 | c.164 others(1813): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1787): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 57 | 0.0175 | 1794 | c.*31 others(1805): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1787): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG03516.hp2 |
a0001a0006 | a0001c0014a0006c0004 | a0001c0014t0035a0006c0004t0006a0006c0004t0041 | a0001c0014t0035g0113 a0006c0004t0006g0087 a0006c0004t0041g0116 |
3 | 26 | 0.1154 | 1794 | c.366 others(1813): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TGGTGATG others(1787): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02615.hp1 HG02630.hp1 others(3): Show |
a0004a0023a0025others(2): Show | a0004c0049a0004c0062a0023c0075others(3): Show | a0004c0049t0012a0004c0062t0059a0023c0075t0063others(3): Show | a0004c0049t0012g0080 a0004c0062t0059g0118 a0023c0075t0063g0102 others(3): Show |
6 | 29 | 0.2069 | 1794 | c.366 others(1813): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1990809 | C | CCAGAGCC others(1787): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0093 a0001c0004t0001g0094 |
2 | 259 | 0.0077 | 1794 | c.141 others(1815): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949090 | G | GGCCTCCT others(1787): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0004 | 1 | 128 | 0.0078 | 1794 | c.360 others(1813): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1787): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 5 | 0.2000 | 1794 | c.189 others(1813): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1787): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01358.hp1 HG02132.hp2 |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0001a0004c0004t0001 | a0001c0002t0001g0094 a0001c0002t0001g0095 a0004c0004t0001g0127 |
3 | 7 | 0.4286 | 1794 | c.189 others(1813): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(1787): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 207 | 0.0048 | 1794 | c.715 others(1811): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492490 | C | CCGGGGAG others(1787): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 250 | 0.0040 | 1794 | c.126 others(1813): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1787): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0091 | 1 | 2 | 0.5000 | 1794 | c.438 others(1811): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(1787): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0000 a0001c0001t0015g0000 |
2 | 323 | 0.0062 | 1794 | c.*44 others(1805): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1787): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18964.hp2 NA18969.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0293 others(3): Show |
6 | 222 | 0.0270 | 1794 | c.-93 others(1811): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1787): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 217 | 0.0046 | 1794 | c.-93 others(1811): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50678920 | G | GATGGGGA others(1787): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0284 | 1 | 184 | 0.0054 | 1794 | c.257 others(1813): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325070 | G | GGGGGGCG others(1787): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 71 | 0.0141 | 1794 | c.531 others(1811): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1788): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0020 | a0020c0116 | a0020c0116t0042 | a0020c0116t0042g0160 | 1 | 32 | 0.0313 | 1795 | c.218 others(1810): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 304161 | G | GATGGGGA others(1788): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0105 | 1 | 102 | 0.0098 | 1795 | c.351 others(1814): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(1788): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18522.hp1 |
a0014a0018 | a0014c0060a0018c0061 | a0014c0060t0004a0018c0061t0001 | a0014c0060t0004g0036 a0018c0061t0001g0038 |
2 | 193 | 0.0104 | 1795 | c.89- others(1808): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCGTGCAC others(1788): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0290 | 1 | 149 | 0.0067 | 1795 | c.129 others(1812): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1788): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 146 | 0.0068 | 1795 | c.114 others(1812): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(1789): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 233 | 0.0043 | 1796 | c.366 others(1813): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar |