| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MACF1_chr1_39199695_39492138 | 39234647 | A | ACCCCCCC others(467): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 45 | 0.0222 | 474 | c.171 others(491): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| MAN2B2_chr4_6570189_6628362 | 6579045 | C | CCACCATC others(467): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 343 | 0.0029 | 474 | c.391 others(489): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MAN2B2_chr4_6570189_6628362 | 6579243 | C | CCACCACC others(467): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0227 | 1 | 252 | 0.0040 | 474 | c.391 others(489): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MINK1_chr17_4828340_4903061 | 4852769 | T | TGGGGGAG others(467): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01884.hp2 others(25): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0014others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0051others(9): Show | a0001c0001t0002g0255 a0001c0001t0009g0204 a0001c0001t0009g0205 others(25): Show |
28 | 52 | 0.5385 | 474 | c.57+ others(491): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43432644 | G | GAGAGAGA others(467): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0240 | 1 | 62 | 0.0161 | 474 | c.225 others(491): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
| MPPED1_chr22_43407014_43512848 | 43432644 | G | GAGAGAGA others(467): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02895.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0243 a0001c0001t0004g0244 a0001c0001t0006g0187 others(5): Show |
8 | 69 | 0.1159 | 474 | c.225 others(491): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
| MPPED1_chr22_43407014_43512848 | 43496290 | A | AGATGGTG others(467): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0211 | 1 | 198 | 0.0051 | 474 | c.633 others(491): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43499932 | G | GTGGTGAT others(467): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0230 | 1 | 244 | 0.0041 | 474 | c.748 others(491): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| MSH4_chr1_75791882_75918242 | 75906495 | T | TATTATAT others(467): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0309 | 1 | 263 | 0.0038 | 474 | c.262 others(493): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | chr1 | TogoVar | |||||||
| MUSK_chr9_110663791_110811558 | 110690701 | T | TATATATA others(467): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 238 | 0.0042 | 474 | c.358 others(491): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MVP_chr16_29815462_29853021 | 29843550 | G | GAGGAAGG others(467): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 204 | 0.0049 | 474 | c.163 others(491): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MVP_chr16_29815462_29853021 | 29843574 | G | GAGGAAGG others(467): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 183 | 0.0055 | 474 | c.163 others(491): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MVP_chr16_29815462_29853021 | 29843574 | G | GAGGGAGG others(467): Show |
intron_variant | MODIFIER | NA18970.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0027 |
2 | 184 | 0.0109 | 474 | c.163 others(491): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NCOR2_chr12_124319415_124572612 | 124438778 | C | CAGAGAGA others(467): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03669.hp1 NA20129.hp1 |
a0002a0003a0018 | a0002c0119a0003c0011a0018c0116 | a0002c0119t0079a0003c0011t0018a0018c0116t0055 | a0002c0119t0079g0233 a0003c0011t0018g0221 a0018c0116t0055g0050 |
3 | 42 | 0.0714 | 474 | c.816 others(489): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241807607 | T | TCCCTCCC others(467): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 307 | 0.0033 | 474 | c.-16 others(485): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1585 | chr2 | TogoVar | |||||||
| NFILZ_chr19_8625633_8686151 | 8678091 | T | TTCCATCC others(467): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp2 | a0009 | a0009c0010 | a0009c0010t0112 | a0009c0010t0112g0091 | 1 | 53 | 0.0189 | 474 | c.*47 others(483): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8678091 | T | TTCCATCC others(467): Show |
3_prime_UTR_variant | MODIFIER | HG01346.hp1 HG02698.hp2 HG02809.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0026 | a0002c0002t0008g0003 a0002c0002t0008g0116 a0002c0002t0008g0219 others(7): Show |
10 | 62 | 0.1613 | 474 | c.*47 others(483): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8678091 | T | TTCCATCC others(467): Show |
3_prime_UTR_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0002 | a0002c0002t0116 | a0002c0002t0116g0230 | 1 | 53 | 0.0189 | 474 | c.*47 others(483): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NHLRC4_chr16_562005_574495 | 571108 | T | TGTCTGGC others(467): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 350 | 0.0029 | 474 | c.*26 others(485): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
| NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTCTG others(467): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 352 | 0.0085 | 474 | c.*26 others(485): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
| NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(467): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0016 | a0016c0022 | a0016c0022t0139 | a0016c0022t0139g0101 | 1 | 205 | 0.0049 | 474 | c.154 others(491): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(467): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0070 | 1 | 30 | 0.0333 | 474 | c.433 others(491): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(467): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 254 | 0.0039 | 474 | c.-16 others(485): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(467): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG02622.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0163 a0001c0001t0001g0197 a0001c0001t0002g0161 others(1): Show |
4 | 257 | 0.0156 | 474 | c.-16 others(485): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(467): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG02080.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 a0001c0001t0002g0224 |
2 | 255 | 0.0078 | 474 | c.-16 others(485): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(467): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 254 | 0.0039 | 474 | c.-16 others(485): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
| OR1F1_chr16_3183204_3211556 | 3197778 | G | GGAGAAAG others(467): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 | 1 | 246 | 0.0041 | 474 | c.-13 others(491): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| OR1F1_chr16_3183204_3211556 | 3197841 | A | AGGAGAGG others(467): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 234 | 0.0043 | 474 | c.-12 others(491): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| PALLD_chr4_168492052_168933441 | 168793121 | G | GTGTGTGC others(467): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0030 | 1 | 40 | 0.0250 | 474 | c.196 others(495): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PALLD_chr4_168492052_168933441 | 168793121 | G | GTGTGTGC others(467): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0083 | 1 | 40 | 0.0250 | 474 | c.196 others(495): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PALLD_chr4_168492052_168933441 | 168793121 | G | GTGTGTGC others(467): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 40 | 0.0250 | 474 | c.196 others(495): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PALLD_chr4_168492052_168933441 | 168793121 | G | GTGTGTGC others(467): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0129 | 1 | 40 | 0.0250 | 474 | c.196 others(495): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PARP10_chr8_143972158_143991460 | 143981826 | G | GTGGTGAT others(467): Show |
intron_variant | MODIFIER | NA18977.hp2 NA19057.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0241 a0002c0002t0002g0242 |
2 | 210 | 0.0095 | 474 | c.255 others(493): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(467): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 122 | 0.0082 | 474 | c.*70 others(485): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(467): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0005 |
2 | 123 | 0.0163 | 474 | c.*70 others(485): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PCDH11Y_chrY_4995296_5747224 | 5525214 | T | TGGGAGGA others(467): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 10 | 0.1000 | 474 | c.305 others(495): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
| PDXK_chr21_43714129_43767299 | 43741407 | G | GGGGGGCT others(467): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0215 | 1 | 292 | 0.0034 | 474 | c.143 others(489): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PIGQ_chr16_564968_589109 | 571108 | T | TGTCTGGC others(467): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0167 | 1 | 320 | 0.0031 | 474 | c.-10 others(491): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
| PIGQ_chr16_564968_589109 | 571108 | T | TGTGTCTG others(467): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01257.hp2 others(2): Show |
a0002 | a0002c0001a0002c0006 | a0002c0001t0001a0002c0006t0001 | a0002c0001t0001g0019 a0002c0001t0001g0179 a0002c0001t0001g0180 others(2): Show |
5 | 324 | 0.0154 | 474 | c.-10 others(491): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
| PIGQ_chr16_564968_589109 | 571108 | T | TGTGTCTG others(467): Show |
intron_variant | MODIFIER | HG00408.hp2 NA19088.hp1 |
a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0020 | 2 | 321 | 0.0062 | 474 | c.-10 others(491): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
| POLG_chr15_89311320_89339824 | 89325041 | T | TGAGTGAG others(467): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 384 | 0.0026 | 474 | c.194 others(491): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
| POLG_chr15_89311320_89339824 | 89325275 | A | AGAGTGAG others(467): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 352 | 0.0028 | 474 | c.194 others(491): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
| PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(467): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0021 a0001c0001t0010g0022 |
2 | 229 | 0.0087 | 474 | c.306 others(493): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| PRKN_chr6_161342417_162732766 | 161875004 | T | TATAAAGT others(467): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0015 | 1 | 31 | 0.0323 | 474 | c.735 others(493): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
| RABL6_chr9_136802948_136846187 | 136803235 | C | CCTCTTGG others(467): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0014 | 1 | 321 | 0.0031 | 474 | c.-49 others(485): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4712 | chr9 | TogoVar | |||||||
| RAMACL_chr6_166578009_166591678 | 166581968 | C | CCCACTCG others(467): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 432 | 0.0023 | 474 | c.*41 others(485): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1040 | chr6 | TogoVar | |||||||
| ROBO2_chr3_77035099_77654964 | 77292599 | C | CTAAAGAC others(467): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0085 | 1 | 160 | 0.0063 | 474 | c.389 others(495): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
| RPS6KA2_chr6_166404364_166632251 | 166581968 | C | CCCACTCG others(467): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0207 | 1 | 237 | 0.0042 | 474 | c.100 others(493): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
| RSPH1_chr21_42467486_42501224 | 42477225 | C | CCCCTCCA others(467): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 122 | 0.0082 | 474 | c.727 others(487): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
| SBNO2_chr19_1102638_1179268 | 1156931 | A | ACCCCGCC others(467): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0141 | 1 | 202 | 0.0050 | 474 | c.-12 others(493): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar |