| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PDE3A_chr12_20363537_20693583 | 20612597 | C | CTTACTTA others(228): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01168.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0011a0001c0001t0015others(13): Show | a0001c0001t0005g0005a0001c0001t0011g0011a0001c0001t0015g0046others(14): Show | 17 | 198 | 0.0859 | 235 | c.101 others(252): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(228): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0199 | 1 | 342 | 0.0029 | 235 | c.20- others(250): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
| PEX10_chr1_2398974_2417564 | 2401319 | T | TTCTCCCT others(228): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 358 | 0.0028 | 235 | c.*44 others(246): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2654 | chr1 | TogoVar | |||||||
| PEX5_chr12_7184686_7216459 | 7196987 | A | ATATGTAA others(228): Show |
intron_variant | MODIFIER | NA18989.hp2 NA19074.hp2 NA19076.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 4 | 428 | 0.0094 | 235 | c.449 others(252): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
| PFKP_chr10_3062548_3141802 | 3115331 | C | CGGAGGAC others(228): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01346.hp2 others(3): Show |
a0002 | a0002c0013 | a0002c0013t0004 | a0002c0013t0004g0005a0002c0013t0004g0026a0002c0013t0004g0249others(3): Show | 6 | 402 | 0.0149 | 235 | c.137 others(254): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PGBD5_chr1_230309490_230431332 | 230315913 | T | TGTGTATA others(228): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0038 | 1 | 288 | 0.0035 | 235 | c.*75 others(246): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 7/7 | 7511 | chr1 | TogoVar | ||||||
| PHKB_chr16_47456331_47706523 | 47476279 | T | TTAACTTA others(228): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03471.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0031a0002c0002t0002g0032 | 2 | 98 | 0.0204 | 235 | c.76+ others(252): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| PIP5K1C_chr19_3625183_3705468 | 3683855 | C | CGCTTCCC others(228): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0303a0001c0002t0001g0304 | 2 | 332 | 0.0060 | 235 | c.94+ others(252): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
| PKHD1_chr6_51610299_52092613 | 51981304 | G | GCTCCCCC others(228): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0004 | a0004c0014 | a0004c0014t0004 | a0004c0014t0004g0024 | 1 | 134 | 0.0075 | 235 | c.575 others(256): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
| PKHD1_chr6_51610299_52092613 | 51981304 | G | GCTCCCCC others(228): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0043 | 1 | 134 | 0.0075 | 235 | c.575 others(256): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
| PLPPR3_chr19_807488_826955 | 816328 | T | TCCACCCA others(228): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 398 | 0.0025 | 235 | c.76- others(248): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 2/7 | chr19 | TogoVar | |||||||
| PNMA5_chrX_152983824_152999116 | 152998756 | T | TATATATT others(228): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0014 | 2 | 286 | 0.0070 | 235 | c.-50 others(246): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4641 | chrX | TogoVar | |||||||
| PRAMEF11_chr1_12819605_12836410 | 12829732 | A | AAGCTTTG others(228): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0028 | a0028c0016 | a0028c0016t0005 | a0028c0016t0005g0132 | 1 | 404 | 0.0025 | 235 | c.-16 others(250): Show |
PRAMEF11 | ENSG00000239810.3 | transcript | ENST00000619922.1 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
| PRDM16_chr1_3064203_3443621 | 3176152 | T | TATCCATC others(228): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG02056.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0020 | a0001c0001t0002a0001c0001t0035a0001c0001t0069others(7): Show | a0001c0001t0002g0012a0001c0001t0035g0194a0001c0001t0069g0115others(7): Show | 10 | 210 | 0.0476 | 235 | c.38- others(250): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3176152 | T | TATCCATC others(228): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02258.hp2 others(8): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(8): Show | a0001c0001t0001g0203a0001c0001t0011g0047a0001c0001t0013g0002others(8): Show | 11 | 210 | 0.0524 | 235 | c.38- others(250): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3176264 | G | GTCCATCC others(228): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0170 | 1 | 210 | 0.0048 | 235 | c.38- others(250): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151855190 | C | CCCTCCAC others(228): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0217 | 1 | 252 | 0.0040 | 235 | c.114 others(254): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
| PRKCZ_chr1_2045411_2190395 | 2106518 | A | AGCCCCTC others(228): Show |
intron_variant | MODIFIER | HG03669.hp1 HG03669.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0233a0001c0003t0001g0088 | 2 | 286 | 0.0070 | 235 | c.335 others(254): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2106569 | C | CTTCAGCA others(228): Show |
intron_variant | MODIFIER | NA19079.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0083 | 2 | 286 | 0.0070 | 235 | c.335 others(254): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2106627 | C | CTTCAGCA others(228): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 286 | 0.0035 | 235 | c.335 others(254): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2106692 | A | AGCCCCTC others(228): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 286 | 0.0035 | 235 | c.335 others(254): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2106700 | C | CGGTGGGC others(228): Show |
intron_variant | MODIFIER | HG03669.hp1 HG03669.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0233a0001c0003t0001g0088 | 2 | 286 | 0.0070 | 235 | c.335 others(254): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2106750 | A | AGCCCCTC others(228): Show |
intron_variant | MODIFIER | HG02165.hp1 HG03927.hp1 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0251a0001c0001t0004g0063a0001c0001t0012g0058 | 3 | 286 | 0.0105 | 235 | c.335 others(254): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2106797 | G | GACTCTTC others(228): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0005 | a0003c0005t0016 | a0003c0005t0016g0180 | 1 | 286 | 0.0035 | 235 | c.335 others(254): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2121842 | T | TTCATGGT others(228): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 286 | 0.0035 | 235 | c.335 others(254): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRR5L_chr11_36291288_36470204 | 36351047 | T | TATATATT others(228): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0053 | 1 | 272 | 0.0037 | 235 | c.-12 others(256): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
| PTBP1_chr19_792452_817312 | 816328 | T | TCCACCCA others(228): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0005 | 1 | 388 | 0.0026 | 235 | c.*55 others(246): Show |
PTBP1 | ENSG00000011304.22 | transcript | ENST00000356948.11 | protein_coding | 4017 | chr19 | TogoVar | |||||||
| QSOX2_chr9_136201333_136250812 | 136234723 | G | GGCTTGGG others(228): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0190 | 1 | 392 | 0.0026 | 235 | c.329 others(252): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
| RAB11FIP3_chr16_420649_528011 | 458462 | C | CCACCAGG others(228): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0063 | 1 | 295 | 0.0034 | 235 | c.715 others(252): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 504407 | T | TTCCTGTA others(228): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0157 | 1 | 295 | 0.0034 | 235 | c.139 others(254): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RAB3C_chr5_58578075_58864394 | 58597109 | T | TATATAAT others(228): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0137 | 1 | 220 | 0.0046 | 235 | c.24+ others(252): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| RABGAP1_chr9_122936020_123109866 | 123077610 | C | CATTGTAT others(228): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0228 | 1 | 258 | 0.0039 | 235 | c.242 others(252): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114099675 | G | GCAGCCCC others(228): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0041 | 2 | 67 | 0.0299 | 235 | c.56- others(252): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| RBFOX1_chr16_6014024_7718340 | 6637355 | T | TAATATAT others(228): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 68 | 0.0147 | 235 | c.-63 others(254): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | chr16 | TogoVar | |||||||
| RFX3_chr9_3213297_3531001 | 3505421 | A | AATATAAA others(228): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03098.hp2 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025a0001c0001t0039 | a0001c0001t0002g0158a0001c0001t0025g0104a0001c0001t0039g0106 | 3 | 196 | 0.0153 | 235 | c.-9+ others(252): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
| RFX3_chr9_3213297_3531001 | 3505453 | A | ATATAAAA others(228): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0193 | 1 | 196 | 0.0051 | 235 | c.-9+ others(252): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
| RIMBP2_chr12_130391133_130721299 | 130641292 | C | CATGGTGA others(228): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0140 | 1 | 180 | 0.0056 | 235 | c.-35 others(256): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
| RIMBP2_chr12_130391133_130721299 | 130641292 | C | CATGGTGA others(228): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 |
a0001 | a0001c0027a0001c0036 | a0001c0027t0001a0001c0036t0001 | a0001c0027t0001g0057a0001c0036t0001g0094 | 2 | 180 | 0.0111 | 235 | c.-35 others(256): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
| RIMBP2_chr12_130391133_130721299 | 130641321 | A | ATGACGGG others(228): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087a0001c0002t0001g0088 | 2 | 180 | 0.0111 | 235 | c.-35 others(256): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
| RIPOR3_chr20_50581108_50696542 | 50666183 | A | ATTTCTTT others(228): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 280 | 0.0036 | 235 | c.3+2 others(250): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
| RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(228): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02647.hp1 HG02818.hp1 others(6): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0007a0001c0009t0007 | a0001c0003t0007g0144a0001c0003t0007g0145a0001c0003t0007g0146others(6): Show | 9 | 396 | 0.0227 | 235 | c.807 others(252): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
| RUNDC3B_chr7_87623398_87837296 | 87626191 | C | CACATATA others(228): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0094 | 1 | 202 | 0.0050 | 235 | c.-26 others(246): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2206 | chr7 | TogoVar | |||||||
| SARDH_chr9_133658560_133743352 | 133668588 | C | CTCTCCCC others(228): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0097 | 1 | 262 | 0.0038 | 235 | c.249 others(254): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
| SCARF1_chr17_1628858_1650732 | 1638604 | T | TACGTGGG others(228): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 |
a0008a0032 | a0008c0018a0032c0035 | a0008c0018t0002a0032c0035t0002 | a0008c0018t0002g0210a0032c0035t0002g0206 | 2 | 401 | 0.0050 | 235 | c.136 others(252): Show |
SCARF1 | ENSG00000074660.17 | transcript | ENST00000263071.9 | protein_coding | 8/10 | chr17 | TogoVar | |||||||
| SCARF1_chr17_1628858_1650732 | 1638608 | T | TGGGCGAC others(228): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0121 | 1 | 401 | 0.0025 | 235 | c.136 others(252): Show |
SCARF1 | ENSG00000074660.17 | transcript | ENST00000263071.9 | protein_coding | 8/10 | chr17 | TogoVar | |||||||
| SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(228): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0074 | 1 | 290 | 0.0035 | 235 | c.464 others(248): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43339677 | C | CTCTATCC others(228): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG02027.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0013a0002c0002others(5): Show | a0001c0004t0004a0001c0004t0039a0001c0013t0004others(9): Show | a0001c0004t0004g0120a0001c0004t0039g0108a0001c0013t0004g0099others(13): Show | 16 | 280 | 0.0571 | 235 | c.89- others(248): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
| SCUBE1_chr22_43192280_43348372 | 43339728 | A | ACCCCCCA others(228): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0042 | a0002c0002t0042g0041 | 1 | 280 | 0.0036 | 235 | c.89- others(248): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
| SGCD_chr5_156322164_156772788 | 156549148 | A | ATTTTTTT others(228): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0144 | 1 | 150 | 0.0067 | 235 | c.295 others(254): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| SHOX_chrX_625791_656584 | 625985 | C | CTATCTCT others(228): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0050 | 1 | 220 | 0.0046 | 235 | c.-49 others(246): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4805 | chrX | TogoVar |