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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(751): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055 | 1 | 242 | 0.0041 | 758 | c.927 others(775): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(751): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 334 | 0.0030 | 758 | c.147 others(775): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(751): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0021 | a0003c0021t0004 | a0003c0021t0004g0284 | 1 | 298 | 0.0034 | 758 | c.955 others(775): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(751): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0295 | 1 | 298 | 0.0034 | 758 | c.955 others(775): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91296197 | C | CTTTTTTT others(751): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 358 | 0.0028 | 758 | c.599 others(773): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(751): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0095 | a0095c0107 | a0095c0107t0001 | a0095c0107t0001g0223 | 1 | 346 | 0.0029 | 758 | c.963 others(775): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(751): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0078 | a0078c0066 | a0078c0066t0001 | a0078c0066t0001g0017 | 1 | 346 | 0.0029 | 758 | c.963 others(775): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(751): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0053 | a0053c0068 | a0053c0068t0001 | a0053c0068t0001g0330 | 1 | 346 | 0.0029 | 758 | c.963 others(775): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(751): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0146 | 1 | 284 | 0.0035 | 758 | c.411 others(775): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CD109_chr6_73691203_73833313 | 73818062 | T | TAGAAAAT others(751): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0012 | 1 | 362 | 0.0028 | 758 | c.391 others(775): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505627 | C | CCCCCCCC others(751): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01515.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0045 | a0001c0001t0001g0213 a0001c0001t0001g0239 a0001c0001t0045g0214 |
3 | 322 | 0.0093 | 758 | c.165 others(775): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20357451 | A | ACTGAGGG others(751): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 | 1 | 236 | 0.0042 | 758 | c.351 others(777): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20357454 | G | GAGGGGAG others(751): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02080.hp1 NA18962.hp2 others(3): Show |
a0002a0029 | a0002c0002a0029c0041 | a0002c0002t0001a0029c0041t0001 | a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0110 others(3): Show |
6 | 236 | 0.0254 | 758 | c.351 others(777): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(751): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0036 | 1 | 168 | 0.0060 | 758 | c.-26 others(767): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(751): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030 a0001c0001t0005g0034 a0001c0001t0005g0035 others(1): Show |
4 | 364 | 0.0110 | 758 | c.445 others(773): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978284 | A | ATATATAT others(751): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 94 | 0.0106 | 758 | c.-2+ others(775): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 417622 | G | GCCTGTCA others(751): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0016 | 1 | 88 | 0.0114 | 758 | c.739 others(775): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 556200 | A | ACCCCTCC others(751): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0020 | a0001c0020t0006 | a0001c0020t0006g0014 | 1 | 88 | 0.0114 | 758 | c.86- others(775): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1450273 | G | GGAGCTGT others(751): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0024 | 1 | 40 | 0.0250 | 758 | c.107 others(777): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315169 | C | CCACCACC others(751): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 250 | 0.0040 | 758 | c.259 others(777): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99927924 | G | GTGGTGGT others(751): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0014 | 1 | 288 | 0.0035 | 758 | c.190 others(777): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896517 | T | TGGGGGTG others(751): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 37 | 0.0270 | 758 | c.161 others(773): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(751): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 230 | 0.0044 | 758 | c.126 others(775): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(751): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001a0001c0002t0006 | a0001c0001t0006g0123 a0001c0001t0006g0125 a0001c0001t0006g0172 others(2): Show |
5 | 230 | 0.0217 | 758 | c.126 others(775): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
GRIN2A_chr16_9748408_10187428 | 10040002 | C | CACACACA others(751): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0031a0001c0003t0001 | a0001c0001t0031g0069 a0001c0003t0001g0070 |
2 | 168 | 0.0119 | 758 | c.415 others(779): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
GRIN2A_chr16_9748408_10187428 | 10040002 | C | CACACACA others(751): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0033a0001c0002t0058 | a0001c0001t0002g0061 a0001c0001t0033g0137 a0001c0002t0058g0156 |
3 | 168 | 0.0179 | 758 | c.415 others(779): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
GRIN2A_chr16_9748408_10187428 | 10040002 | C | CACACACA others(751): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00642.hp1 others(50): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0090 others(50): Show |
53 | 168 | 0.3155 | 758 | c.415 others(779): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
GRIN2A_chr16_9748408_10187428 | 10040002 | C | CACACACA others(751): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0051 a0001c0001t0001g0089 a0001c0001t0001g0124 others(55): Show |
58 | 168 | 0.3452 | 758 | c.415 others(779): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
GRIN2A_chr16_9748408_10187428 | 10040002 | C | CACACACA others(751): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01256.hp1 HG01496.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(6): Show | a0001c0001t0001g0067 a0001c0001t0001g0101 a0001c0001t0003g0048 others(9): Show |
12 | 168 | 0.0714 | 758 | c.415 others(779): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
GRIN2A_chr16_9748408_10187428 | 10040002 | C | CACACACA others(751): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0080 | 1 | 168 | 0.0060 | 758 | c.415 others(779): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
KDM4B_chr19_4964113_5158598 | 5131555 | A | AGCGGGGG others(751): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0020 | a0020c0050 | a0020c0050t0004 | a0020c0050t0004g0197 | 1 | 270 | 0.0037 | 758 | c.178 others(775): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(751): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0124 | 1 | 278 | 0.0036 | 758 | c.115 others(775): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(751): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0027 | a0027c0064 | a0027c0064t0001 | a0027c0064t0001g0247 | 1 | 278 | 0.0036 | 758 | c.115 others(775): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCC others(751): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 140 | 0.0071 | 758 | c.114 others(777): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(751): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0028 | a0002c0002t0028g0268 | 1 | 384 | 0.0026 | 758 | c.160 others(775): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
NEU1_chr6_31852659_31867821 | 31853826 | C | CGCAGAGG others(751): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 419 | 0.0024 | 758 | c.*58 others(769): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3832 | chr6 | TogoVar | |||||||
NEU1_chr6_31852659_31867821 | 31853826 | C | CGCAGAGG others(751): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 419 | 0.0048 | 758 | c.*58 others(769): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3832 | chr6 | TogoVar | |||||||
NEU1_chr6_31852659_31867821 | 31853826 | C | CGCAGAGG others(751): Show |
downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 419 | 0.0024 | 758 | c.*58 others(769): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3832 | chr6 | TogoVar | |||||||
NEU1_chr6_31852659_31867821 | 31853826 | C | CGCAGAGG others(751): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02723.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0012 | 3 | 419 | 0.0072 | 758 | c.*58 others(769): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3832 | chr6 | TogoVar | |||||||
NEU1_chr6_31852659_31867821 | 31853940 | C | CGGGGCGG others(751): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 419 | 0.0024 | 758 | c.*57 others(769): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3718 | chr6 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(751): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0028 | 1 | 326 | 0.0031 | 758 | c.433 others(775): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(751): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 266 | 0.0038 | 758 | c.-34 others(773): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141130 | C | CGCACACC others(751): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0020 | a0020c0065 | a0020c0065t0063 | a0020c0065t0063g0189 | 1 | 210 | 0.0048 | 758 | c.147 others(775): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137532899 | C | CGGGAGCA others(751): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0173 | 1 | 188 | 0.0053 | 758 | c.747 others(775): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 8/34 | chr9 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325069 | T | TGAGTGAG others(751): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 398 | 0.0025 | 758 | c.194 others(775): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
PROS1_chr3_93868051_93978896 | 93943429 | T | TCCAGGCC others(751): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp2 HG03098.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0219 |
3 | 314 | 0.0096 | 758 | c.77- others(775): Show |
PROS1 | ENSG00000184500.16 | transcript | ENST00000394236.9 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
RANBP10_chr16_67718070_67811560 | 67809198 | G | GGTGGCTC others(751): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0115 | 1 | 152 | 0.0066 | 758 | c.-26 others(769): Show |
RANBP10 | ENSG00000141084.12 | transcript | ENST00000317506.8 | protein_coding | 2639 | chr16 | TogoVar | |||||||
RANBP10_chr16_67718070_67811560 | 67809198 | G | GGTGGCTC others(751): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00609.hp2 others(50): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(50): Show |
53 | 152 | 0.3487 | 758 | c.-26 others(769): Show |
RANBP10 | ENSG00000141084.12 | transcript | ENST00000317506.8 | protein_coding | 2639 | chr16 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77323064 | T | TATATTAT others(751): Show |
intron_variant | MODIFIER | HG02630.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0002t0001 | a0001c0001t0021g0016 a0001c0002t0001g0138 |
2 | 160 | 0.0125 | 758 | c.389 others(779): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339682 | T | TCCCCCCA others(751): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18971.hp1 NA19005.hp2 |
a0002a0003 | a0002c0002a0003c0001 | a0002c0002t0002a0003c0001t0001 | a0002c0002t0002g0111 a0003c0001t0001g0112 a0003c0001t0001g0118 |
3 | 280 | 0.0107 | 758 | c.89- others(771): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar |