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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(652): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0000 a0001c0001t0007g0000 |
2 | 11 | 0.1818 | 659 | c.*10 others(672): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(652): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG02698.hp1 HG02698.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0068 | a0001c0001t0007g0000 a0001c0001t0068g0000 |
6 | 15 | 0.4000 | 659 | c.*10 others(672): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279071 | G | GGAGGGAG others(652): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03471.hp2 HG03486.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0032 a0002c0004t0003g0033 a0002c0004t0003g0034 |
3 | 407 | 0.0074 | 659 | c.465 others(674): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2539214 | C | CTTCATAA others(652): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0073 | 1 | 92 | 0.0109 | 659 | c.139 others(680): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(652): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0038 | 1 | 5 | 0.2000 | 659 | c.234 others(680): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(652): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0028 | 1 | 5 | 0.2000 | 659 | c.234 others(680): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 419929 | T | TTCCATTA others(652): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 387 | 0.0026 | 659 | c.413 others(676): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71688976 | G | GGTGGTGG others(652): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02280.hp1 HG02723.hp2 others(4): Show |
a0002a0003a0040others(4): Show | a0002c0102a0003c0090a0040c0040others(4): Show | a0002c0102t0001a0003c0090t0001a0040c0040t0001others(4): Show | a0002c0102t0001g0192 a0003c0090t0001g0194 a0040c0040t0001g0134 others(4): Show |
7 | 143 | 0.0490 | 659 | c.205 others(678): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 19/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(652): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 66 | 0.0152 | 659 | c.-25 others(670): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(652): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01123.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0093 a0001c0001t0001g0168 a0001c0001t0001g0246 others(29): Show |
32 | 116 | 0.2759 | 659 | c.110 others(676): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356953 | T | TACTGTGA others(652): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0178 a0001c0003t0004g0005 |
2 | 106 | 0.0189 | 659 | c.351 others(678): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(652): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00639.hp2 others(23): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 others(23): Show |
26 | 144 | 0.1806 | 659 | c.181 others(678): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(652): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 119 | 0.0084 | 659 | c.181 others(678): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(652): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01928.hp2 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0144 a0001c0001t0001g0222 a0001c0001t0001g0223 others(1): Show |
4 | 122 | 0.0328 | 659 | c.181 others(678): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(652): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 NA18747.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(2): Show |
5 | 123 | 0.0407 | 659 | c.181 others(678): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(652): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01943.hp1 NA18946.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0015a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0015t0001others(1): Show | a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0262 others(3): Show |
6 | 124 | 0.0484 | 659 | c.181 others(678): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(652): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 119 | 0.0084 | 659 | c.181 others(678): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(652): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 119 | 0.0084 | 659 | c.181 others(678): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(652): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0006 | 1 | 171 | 0.0058 | 659 | c.85- others(676): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924204 | C | CCCCCACA others(652): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0325 | 1 | 340 | 0.0029 | 659 | c.489 others(676): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DAP3_chr1_155684091_155744010 | 155700906 | T | TCTGGGAG others(652): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0013 a0002c0003t0011g0014 |
2 | 6 | 0.3333 | 659 | c.-7- others(674): Show |
DAP3 | ENSG00000132676.16 | transcript | ENST00000368336.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1164098 | A | AGATTTTT others(652): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 1 | 36 | 0.0278 | 659 | c.74- others(676): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716082 | G | GTGGTGGG others(652): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 145 | 0.0069 | 659 | c.86- others(672): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180635669 | A | AAGTATGG others(652): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0016 | 1 | 362 | 0.0028 | 659 | c.59- others(674): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
GPATCH2_chr1_217421992_217636090 | 217524926 | G | GGGAGAGG others(652): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0091 | 1 | 166 | 0.0060 | 659 | c.109 others(680): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
GRM3_chr7_86638909_86869879 | 86655539 | C | CAAAAATT others(652): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 211 | 0.0047 | 659 | c.-14 others(680): Show |
GRM3 | ENSG00000198822.11 | transcript | ENST00000361669.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 186042 | G | GACACGGG others(652): Show |
downstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 318 | 0.0031 | 659 | c.*49 others(670): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4864 | chr16 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(652): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0017 | 1 | 204 | 0.0049 | 659 | c.-36 others(670): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(652): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01256.hp1 HG01884.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0028 others(7): Show |
11 | 21 | 0.5238 | 659 | c.*52 others(670): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(652): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0033 others(4): Show |
11 | 21 | 0.5238 | 659 | c.*52 others(670): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(652): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 11 | 0.0909 | 659 | c.*52 others(670): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23982662 | A | AAAAAAAA others(652): Show |
downstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 284 | 0.0035 | 659 | c.*52 others(670): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1057 | chrX | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349826 | T | TGGCGGTG others(652): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0142 |
2 | 147 | 0.0136 | 659 | c.956 others(676): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349826 | T | TGGCGGTG others(652): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 146 | 0.0068 | 659 | c.956 others(676): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 894225 | G | GCCCACCC others(652): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 2 | 0.5000 | 659 | c.664 others(676): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 894234 | T | TCCCCCTG others(652): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0016 | a0016c0066 | a0016c0066t0001 | a0016c0066t0001g0146 | 1 | 292 | 0.0034 | 659 | c.664 others(676): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCCCT others(652): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 125 | 0.0080 | 659 | c.-49 others(670): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCCCT others(652): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02647.hp2 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0211 a0001c0006t0002g0212 |
2 | 126 | 0.0159 | 659 | c.-49 others(670): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(652): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 8 | 0.1250 | 659 | c.250 others(674): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(652): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0052 | 1 | 4 | 0.2500 | 659 | c.114 others(678): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(652): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 8 | 0.1250 | 659 | c.293 others(678): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(652): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0073 | 1 | 4 | 0.2500 | 659 | c.160 others(676): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64175431 | T | TAGCATCT others(652): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 |
2 | 99 | 0.0202 | 659 | c.-99 others(678): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811315 | T | TTCCCTCC others(652): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 | 1 | 154 | 0.0065 | 659 | c.773 others(674): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54332312 | A | AATATAAT others(652): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG03209.hp1 |
a0002a0006a0022 | a0002c0021a0006c0006a0022c0013 | a0002c0021t0021a0006c0006t0010a0022c0013t0003 | a0002c0021t0021g0047 a0006c0006t0010g0024 a0022c0013t0003g0031 |
3 | 83 | 0.0361 | 659 | c.595 others(676): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54332312 | A | AATATAAT others(652): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG03209.hp2 |
a0006a0008a0015 | a0006c0008a0008c0015a0015c0027 | a0006c0008t0001a0008c0015t0001a0015c0027t0001 | a0006c0008t0001g0023 a0008c0015t0001g0028 a0015c0027t0001g0044 |
3 | 78 | 0.0385 | 659 | c.595 others(676): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 976715 | C | CCAACCCC others(652): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 286 | 0.0035 | 659 | c.215 others(674): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 976810 | G | GCAACCCC others(652): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 75 | 0.0133 | 659 | c.215 others(676): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 976715 | C | CCAACCCC others(652): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0011 | 1 | 287 | 0.0035 | 659 | c.*21 others(670): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 851 | chr1 | TogoVar | |||||||
PRR22_chr19_5777960_5789746 | 5787204 | G | GGTGGGAG others(652): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 2 | 0.5000 | 659 | c.-25 others(670): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 2459 | chr19 | TogoVar |