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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2264): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0047 | a0047c0107 | a0047c0107t0026 | a0047c0107t0026g0214 | 1 | 2 | 0.5000 | 2271 | c.801 others(2288): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2264): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 2 | 0.5000 | 2271 | c.801 others(2288): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79358768 | T | TCCGTGTG others(2265): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 |
a0001 | a0001c0014 | a0001c0014t0006 | a0001c0014t0006g0017 a0001c0014t0006g0097 |
2 | 296 | 0.0068 | 2272 | c.290 others(2289): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2265): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0120 | 1 | 69 | 0.0145 | 2272 | c.*52 others(2283): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2265): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0283 | 1 | 82 | 0.0122 | 2272 | c.439 others(2289): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2265): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0068 | a0068c0050 | a0068c0050t0002 | a0068c0050t0002g0006 | 1 | 2 | 0.5000 | 2272 | c.801 others(2289): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2265): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 43 | 0.0233 | 2272 | c.-12 others(2293): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(2266): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0033 | a0002c0033t0002 | a0002c0033t0002g0212 | 1 | 251 | 0.0040 | 2273 | c.955 others(2290): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2266): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 445 | 0.0022 | 2273 | c.-22 others(2290): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2266): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0284 | 1 | 158 | 0.0063 | 2273 | c.126 others(2290): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586251 | G | GGCCGGGG others(2266): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0293 | 1 | 222 | 0.0045 | 2273 | c.157 others(2288): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2266): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0003 | a0003c0008 | a0003c0008t0011 | a0003c0008t0011g0278 | 1 | 82 | 0.0122 | 2273 | c.439 others(2290): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2266): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02074.hp2 NA18747.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0040 a0001c0001t0004g0238 a0001c0001t0004g0242 others(5): Show |
8 | 89 | 0.0899 | 2273 | c.439 others(2290): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2266): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0239 | 1 | 82 | 0.0122 | 2273 | c.439 others(2290): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2266): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19074.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002 | a0001c0001t0005g0145 a0002c0002t0002g0146 |
2 | 83 | 0.0241 | 2273 | c.439 others(2290): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2266): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03041.hp1 |
a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0046 a0001c0003t0013g0052 |
2 | 5 | 0.4000 | 2273 | c.522 others(2290): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149696 | G | GGCCGCCT others(2266): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0152 | 1 | 161 | 0.0062 | 2273 | c.901 others(2288): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM218_chr11_125089389_125116626 | 125090791 | T | TGGGGGGG others(2266): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 385 | 0.0026 | 2273 | c.*68 others(2284): Show |
TMEM218 | ENSG00000150433.10 | transcript | ENST00000682305.1 | protein_coding | 3597 | chr11 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2267): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0033 | a0002c0033t0001 | a0002c0033t0001g0113 | 1 | 197 | 0.0051 | 2274 | c.578 others(2287): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2267): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0031 | a0002c0031t0005 | a0002c0031t0005g0082 | 1 | 197 | 0.0051 | 2274 | c.578 others(2287): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2267): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0202 | 1 | 76 | 0.0132 | 2274 | c.955 others(2291): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2267): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0130 | 1 | 445 | 0.0022 | 2274 | c.-22 others(2291): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2267): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0127 | 1 | 445 | 0.0022 | 2274 | c.-22 others(2291): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185638 | C | CGAGTAGA others(2267): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0071 | a0071c0081 | a0071c0081t0001 | a0071c0081t0001g0125 | 1 | 177 | 0.0056 | 2274 | c.300 others(2291): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2267): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0034 | 1 | 13 | 0.0769 | 2274 | c.354 others(2293): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(2267): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0005 | a0005c0053 | a0005c0053t0001 | a0005c0053t0001g0061 | 1 | 236 | 0.0042 | 2274 | c.268 others(2293): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2267): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 2 | 0.5000 | 2274 | c.44- others(2287): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399344 | C | CATCACCA others(2267): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265 | 1 | 312 | 0.0032 | 2274 | c.-25 others(2291): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MEI4_chr6_77648039_77932045 | 77805847 | T | TGAAGATT others(2267): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0219 | 1 | 358 | 0.0028 | 2274 | c.769 others(2293): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2267): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0087 | a0087c0149 | a0087c0149t0001 | a0087c0149t0001g0155 | 1 | 34 | 0.0294 | 2274 | c.299 others(2289): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39348453 | A | AGGGAAGG others(2267): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0059 | 1 | 258 | 0.0039 | 2274 | c.132 others(2291): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2267): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0190 | 1 | 143 | 0.0070 | 2274 | c.58- others(2291): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325070 | G | GGGGGGCG others(2267): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0098 | 1 | 71 | 0.0141 | 2274 | c.531 others(2291): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2268): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0268 | 1 | 82 | 0.0122 | 2275 | c.439 others(2292): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2268): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0279 | 1 | 82 | 0.0122 | 2275 | c.439 others(2292): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2268): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00733.hp1 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0016 a0001c0001t0001g0060 a0001c0001t0001g0067 others(63): Show |
66 | 147 | 0.4490 | 2275 | c.439 others(2292): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2268): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 82 | 0.0122 | 2275 | c.439 others(2292): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2268): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 | 1 | 82 | 0.0122 | 2275 | c.439 others(2292): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2268): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0010a0002c0002t0005 | a0001c0006t0010g0068 a0002c0002t0005g0064 |
2 | 83 | 0.0241 | 2275 | c.439 others(2292): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2268): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 82 | 0.0122 | 2275 | c.439 others(2292): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(2268): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0086 | 1 | 271 | 0.0037 | 2275 | c.-21 others(2286): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2268): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0012 | a0001c0012t0009 | a0001c0012t0009g0258 | 1 | 143 | 0.0070 | 2275 | c.58- others(2292): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2268): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0003 | a0003c0007 | a0003c0007t0041 | a0003c0007t0041g0115 | 1 | 35 | 0.0286 | 2275 | c.-28 others(2294): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2269): Show |
downstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 69 | 0.0145 | 2276 | c.*52 others(2287): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2269): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0081 | 1 | 82 | 0.0122 | 2276 | c.439 others(2293): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
HYDIN_chr16_70797084_71235722 | 70841136 | A | AAGCTTTT others(2269): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0051 | a0001c0051t0002 | a0001c0051t0002g0001 | 1 | 172 | 0.0058 | 2276 | c.128 others(2295): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 75/85 | chr16 | TogoVar | |||||||
KIAA0319L_chr1_35428492_35562403 | 35527186 | T | TCATTTTA others(2269): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03471.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 |
3 | 311 | 0.0096 | 2276 | c.143 others(2295): Show |
KIAA0319L | ENSG00000142687.19 | transcript | ENST00000325722.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2269): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0064 | a0064c0122 | a0064c0122t0001 | a0064c0122t0001g0023 | 1 | 8 | 0.1250 | 2276 | c.723 others(2293): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2269): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0003 | a0003c0095 | a0003c0095t0001 | a0003c0095t0001g0075 | 1 | 32 | 0.0313 | 2276 | c.218 others(2291): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2269): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0050 | a0050c0123 | a0050c0123t0028 | a0050c0123t0028g0216 | 1 | 2 | 0.5000 | 2276 | c.801 others(2293): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar |