| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DNAJC25_chr9_111626334_111659345 | 111642015 | G | GCCCCGTC others(402): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057a0001c0001t0006g0058 | 2 | 412 | 0.0049 | 409 | c.337 others(426): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89634818 | C | CCCCTTCC others(402): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 250 | 0.0040 | 409 | c.105 others(426): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| EXD3_chr9_137301896_137428162 | 137329795 | G | GGCTACAC others(402): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 82 | 0.0122 | 409 | c.199 others(428): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| GSE1_chr16_85608322_85681200 | 85653201 | C | CCCCTCCC others(402): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0269 | 1 | 290 | 0.0035 | 409 | c.427 others(426): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GTPBP6_chrX_299759_323796 | 313971 | C | CCCCCACC others(402): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0010 | a0010c0031 | a0010c0031t0005 | a0010c0031t0005g0104 | 1 | 155 | 0.0065 | 409 | c.757 others(424): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| HERC6_chr4_88373852_88448097 | 88380374 | T | TATATATA others(402): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0056 | 1 | 174 | 0.0058 | 409 | c.199 others(426): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| IFNAR1_chr21_33319970_33364864 | 33322831 | T | TGGAATAT others(402): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 409 | c.-22 others(420): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2138 | chr21 | TogoVar | ||||||
| KCNJ6_chr21_37602373_37921457 | 37757150 | A | AGCATGAT others(402): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0169 | a0001c0001t0169g0166 | 1 | 198 | 0.0051 | 409 | c.26- others(426): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
| LAMC1_chr1_183018420_183150592 | 183149942 | C | CCTCTCCT others(402): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0047 | 1 | 308 | 0.0033 | 409 | c.*71 others(420): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4351 | chr1 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471610 | T | TATTTATA others(402): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 260 | 0.0039 | 409 | c.125 others(426): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186408 | G | GGAGGAAC others(402): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 350 | 0.0029 | 409 | c.*27 others(420): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2581 | chr16 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1930053 | A | ACACTGCC others(402): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 264 | 0.0038 | 409 | c.180 others(428): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1930243 | C | CCGCTGCC others(402): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18969.hp2 NA19056.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0191a0001c0001t0001g0199a0001c0003t0001g0088 | 3 | 264 | 0.0114 | 409 | c.180 others(428): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1930243 | C | CCGCTGCC others(402): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015 | 1 | 264 | 0.0038 | 409 | c.180 others(428): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1930243 | C | CCGCTGCC others(402): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042 | 1 | 264 | 0.0038 | 409 | c.180 others(428): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| METTL25B_chr1_156723469_156741960 | 156735541 | A | AAAAAAAA others(402): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0208 | 1 | 390 | 0.0026 | 409 | c.112 others(426): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MROH1_chr8_144143016_144266926 | 144203090 | G | GGGGGGGA others(402): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0004 | a0004c0025 | a0004c0025t0001 | a0004c0025t0001g0021 | 1 | 140 | 0.0071 | 409 | c.114 others(428): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MRPL24_chr1_156732303_156746088 | 156735541 | A | AAAAAAAA others(402): Show |
downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 364 | 0.0028 | 409 | c.*18 others(420): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1761 | chr1 | TogoVar | ||||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(402): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 350 | 0.0029 | 409 | c.-28 others(420): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(402): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG02040.hp2 HG02080.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0015 | a0001c0002t0002g0002a0001c0002t0002g0011a0001c0002t0002g0014others(2): Show | 5 | 350 | 0.0143 | 409 | c.-28 others(420): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(402): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 350 | 0.0029 | 409 | c.-28 others(420): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158668331 | C | CCCTTACC others(402): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 378 | 0.0027 | 409 | c.147 others(428): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
| NCR1_chr19_54901148_54918073 | 54916317 | C | CTTTTTTT others(402): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0007 | 1 | 457 | 0.0022 | 409 | c.*34 others(420): Show |
NCR1 | ENSG00000189430.13 | transcript | ENST00000291890.9 | protein_coding | 3245 | chr19 | TogoVar | ||||||
| NCR1_chr19_54901148_54918073 | 54916317 | C | CTTTTTTT others(402): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 NA18943.hp1 NA18952.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0006 | a0003c0004t0005g0007a0003c0004t0006g0007a0003c0004t0006g0019 | 5 | 457 | 0.0109 | 409 | c.*34 others(420): Show |
NCR1 | ENSG00000189430.13 | transcript | ENST00000291890.9 | protein_coding | 3245 | chr19 | TogoVar | ||||||
| NLRP8_chr19_55942832_55993629 | 55993509 | C | CCCCCCTC others(402): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0121 | 1 | 350 | 0.0029 | 409 | c.*55 others(420): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4881 | chr19 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535464 | C | CGGGGAGC others(402): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0190 | 1 | 324 | 0.0031 | 409 | c.140 others(426): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535783 | A | AGGGGAGC others(402): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0248 | 1 | 324 | 0.0031 | 409 | c.140 others(426): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535804 | C | CCTGGGGC others(402): Show |
intron_variant | MODIFIER | HG00558.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0222a0001c0001t0007g0221 | 2 | 324 | 0.0062 | 409 | c.140 others(426): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(402): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0139 | 1 | 326 | 0.0031 | 409 | c.433 others(426): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
| NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(402): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0060 | 1 | 326 | 0.0031 | 409 | c.433 others(426): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
| NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(402): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0171 | 1 | 326 | 0.0031 | 409 | c.433 others(426): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
| ODF3_chr11_191761_205258 | 196141 | A | AGGGGGGC others(402): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG02622.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 4 | 388 | 0.0103 | 409 | c.-91 others(418): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 619 | chr11 | TogoVar | ||||||
| OSBPL9_chr1_51612092_51794219 | 51711466 | A | ACCCCCCC others(402): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03041.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0178a0001c0001t0002g0180a0001c0001t0008g0103others(1): Show | 4 | 186 | 0.0215 | 409 | c.242 others(426): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| OSBPL9_chr1_51612092_51794219 | 51711466 | A | ACCCCCCC others(402): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0147 | 1 | 186 | 0.0054 | 409 | c.242 others(426): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76063865 | G | GTGGCCGG others(402): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01192.hp1 HG02572.hp1 others(1): Show |
a0002a0004a0025 | a0002c0009a0002c0017a0004c0026others(1): Show | a0002c0009t0025a0002c0017t0002a0004c0026t0033others(1): Show | a0002c0009t0025g0084a0002c0017t0002g0065a0004c0026t0033g0114others(1): Show | 4 | 166 | 0.0241 | 409 | c.633 others(426): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PDXK_chr21_43714129_43767299 | 43741292 | G | GGGGGGCT others(402): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0141 | 1 | 358 | 0.0028 | 409 | c.143 others(424): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PGAM5_chr12_132705842_132727734 | 132718452 | G | GGTCCTGG others(402): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0225 | 1 | 394 | 0.0025 | 409 | c.719 others(424): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PIMREG_chr17_6439455_6456469 | 6455724 | G | GGAGGGGA others(402): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 312 | 0.0032 | 409 | c.*53 others(420): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4256 | chr17 | TogoVar | ||||||
| PIMREG_chr17_6439455_6456469 | 6455724 | G | GGAGGGGA others(402): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0049 | 1 | 312 | 0.0032 | 409 | c.*53 others(420): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4256 | chr17 | TogoVar | ||||||
| PLCXD1_chrX_276381_308356 | 280295 | G | GGGGAGGC others(402): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01175.hp1 NA18950.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0078a0001c0003t0002 | a0001c0001t0005g0081a0001c0001t0078g0080a0001c0003t0002g0018others(1): Show | 4 | 176 | 0.0227 | 409 | c.-14 others(420): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 1085 | chrX | TogoVar | ||||||
| PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGG others(402): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 354 | 0.0028 | 409 | c.-27 others(418): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | ||||||
| PLXNB2_chr22_50269979_50312646 | 50285674 | C | CACCTGAG others(402): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02965.hp2 HG02976.hp2 |
a0015a0028 | a0015c0037a0028c0079 | a0015c0037t0007a0028c0079t0001 | a0015c0037t0007g0007a0028c0079t0001g0132 | 3 | 302 | 0.0099 | 409 | c.208 others(426): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2123213 | G | GTAGTTAG others(402): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 286 | 0.0035 | 409 | c.335 others(428): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRPF31_chr19_54110754_54136713 | 54133855 | T | TCTCCCTC others(402): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 NA19057.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 227 | 0.0132 | 409 | c.*24 others(420): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2143 | chr19 | TogoVar | ||||||
| PTP4A3_chr8_141387021_141437454 | 141429798 | A | GCAGGGTG others(402): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0233 | 1 | 323 | 0.0031 | 409 | c.405 others(426): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | chr8 | TogoVar | ||||||
| PTPN9_chr15_75458251_75584315 | 75481523 | C | CGGGAGGT others(402): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0124 | 1 | 326 | 0.0031 | 409 | c.106 others(428): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| RB1_chr13_48298751_48486890 | 48459888 | T | TTCTTTTC others(402): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 306 | 0.0033 | 409 | c.210 others(424): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 20/26 | chr13 | TogoVar | ||||||
| REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(402): Show |
downstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 318 | 0.0031 | 409 | c.*36 others(420): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
| REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(402): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 318 | 0.0031 | 409 | c.*36 others(420): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
| RIPK4_chr21_41734373_41772052 | 41736056 | C | CTTCTTCT others(402): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0245 | 1 | 448 | 0.0022 | 409 | c.*47 others(420): Show |
RIPK4 | ENSG00000183421.12 | transcript | ENST00000332512.8 | protein_coding | 3316 | chr21 | TogoVar |