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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(993): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0014 | a0003c0014t0027 | a0003c0014t0027g0138 | 1 | 44 | 0.0227 | 1000 | c.108 others(1017): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(993): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 1 | 197 | 0.0051 | 1000 | c.578 others(1013): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(993): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19075.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0027 | a0001c0004t0001g0114 a0001c0004t0027g0299 |
2 | 329 | 0.0061 | 1000 | c.313 others(1015): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9406367 | T | TTGTCACT others(993): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0157 | 1 | 206 | 0.0049 | 1000 | c.*30 others(1011): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 690 | chr2 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(993): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 223 | 0.0045 | 1000 | c.*36 others(1011): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGC others(993): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0062 | a0062c0122 | a0062c0122t0003 | a0062c0122t0003g0326 | 1 | 194 | 0.0052 | 1000 | c.300 others(1017): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(993): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 194 | 0.0052 | 1000 | c.300 others(1017): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(993): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014a0001c0001t0026 | a0001c0001t0007g0061 a0001c0001t0014g0007 a0001c0001t0026g0022 |
3 | 41 | 0.0732 | 1000 | c.449 others(1017): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(993): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0153 | 1 | 174 | 0.0057 | 1000 | c.342 others(1021): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(993): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0108 | 1 | 174 | 0.0057 | 1000 | c.342 others(1021): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(993): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0171 | 1 | 6 | 0.1667 | 1000 | c.380 others(1017): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(993): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 6 | 0.1667 | 1000 | c.380 others(1017): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255668 | C | CAGGAAGG others(993): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0232 | 1 | 273 | 0.0037 | 1000 | c.85- others(1017): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TGTACATA others(993): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 118 | 0.0085 | 1000 | c.*19 others(1011): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932765 | G | GAGAGGAA others(993): Show |
intron_variant | MODIFIER | NA18981.hp1 NA19002.hp2 |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0025 | a0001c0004t0004g0026 a0001c0004t0025g0027 |
2 | 336 | 0.0060 | 1000 | c.198 others(1017): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933505 | G | GAGAGGAA others(993): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0356 | 1 | 359 | 0.0028 | 1000 | c.198 others(1015): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933961 | C | CGGGCAGA others(993): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0024 | a0001c0004t0024g0050 | 1 | 370 | 0.0027 | 1000 | c.198 others(1015): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1351426 | G | GGAGGGGG others(993): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0064 | 1 | 321 | 0.0031 | 1000 | c.-23 others(1011): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 2009 | chr1 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(993): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0164 | 1 | 276 | 0.0036 | 1000 | c.228 others(1017): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(993): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0185 | 1 | 276 | 0.0036 | 1000 | c.228 others(1017): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(993): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0171 | 1 | 276 | 0.0036 | 1000 | c.228 others(1017): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(993): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0167 | 1 | 276 | 0.0036 | 1000 | c.228 others(1017): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(993): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0027 | a0027c0077 | a0027c0077t0002 | a0027c0077t0002g0230 | 1 | 249 | 0.0040 | 1000 | c.228 others(1017): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(993): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0004 | a0004c0020 | a0004c0020t0001 | a0004c0020t0001g0268 | 1 | 353 | 0.0028 | 1000 | c.-50 others(1011): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(993): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0012 | a0012c0037 | a0012c0037t0003 | a0012c0037t0003g0184 | 1 | 353 | 0.0028 | 1000 | c.-50 others(1011): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(993): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0021 | a0021c0050 | a0021c0050t0009 | a0021c0050t0009g0198 | 1 | 353 | 0.0028 | 1000 | c.-50 others(1011): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(993): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0075 | 1 | 311 | 0.0032 | 1000 | c.-50 others(1011): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355506 | A | AGGGAGGA others(993): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0021 | a0021c0027 | a0021c0027t0001 | a0021c0027t0001g0064 | 1 | 78 | 0.0128 | 1000 | c.758 others(1015): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(993): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 223 | 0.0045 | 1000 | c.238 others(1021): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(993): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0195 | 1 | 223 | 0.0045 | 1000 | c.238 others(1021): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71680111 | T | TCTCCCTT others(993): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0074 | 1 | 60 | 0.0167 | 1000 | c.150 others(1019): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218313 | A | AACACCAC others(993): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0002 | 1 | 67 | 0.0149 | 1000 | c.*27 others(1011): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1144 | chr8 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(993): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 63 | 0.0159 | 1000 | c.105 others(1017): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406367 | T | TTGTCACT others(993): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 268 | 0.0037 | 1000 | c.*46 others(1009): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 466 | chr2 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126799420 | C | CTGTGTGC others(993): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01106.hp2 others(14): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0090 others(14): Show |
17 | 98 | 0.1735 | 1000 | c.55+ others(1019): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(993): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0085 | a0085c0063 | a0085c0063t0001 | a0085c0063t0001g0030 | 1 | 31 | 0.0323 | 1000 | c.956 others(1017): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LKAAEAR1_chr20_64078376_64089398 | 64088874 | T | TGGCCAGG others(993): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 50 | 0.0400 | 1000 | c.-46 others(1011): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4477 | chr20 | TogoVar | |||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(993): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01167.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0006g0004 others(3): Show |
9 | 10 | 0.9000 | 1000 | c.27- others(1015): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563712 | A | ACTCCTGA others(993): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0034 | 1 | 2 | 0.5000 | 1000 | c.27- others(1015): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12563768 | G | GTGAGCCA others(993): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 326 | 0.0031 | 1000 | c.27- others(1015): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79532257 | T | TCCCCCGC others(993): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0269 | 1 | 80 | 0.0125 | 1000 | c.*46 others(1011): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2935 | chr18 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79532291 | C | CTGCAGCC others(993): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0064 | 1 | 264 | 0.0038 | 1000 | c.*47 others(1011): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2969 | chr18 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGGGAT others(993): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0009 | a0009c0022 | a0009c0022t0008 | a0009c0022t0008g0024 a0009c0022t0008g0025 |
2 | 284 | 0.0070 | 1000 | c.141 others(1017): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(993): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0119 | 1 | 4 | 0.2500 | 1000 | c.279 others(1015): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(993): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 4 | 0.2500 | 1000 | c.279 others(1015): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64088874 | T | TGGCCAGG others(993): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015 | a0001c0001t0014g0034 a0001c0001t0015g0033 |
2 | 41 | 0.0488 | 1000 | c.-18 others(1019): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(993): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 135 | 0.0074 | 1000 | c.*31 others(1011): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6210924 | A | AGTCTTGA others(993): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0028 | 1 | 166 | 0.0060 | 1000 | c.77- others(1015): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649263 | A | ATGCCCAC others(993): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0184 | 1 | 86 | 0.0116 | 1000 | c.112 others(1017): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(993): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0085 | 1 | 24 | 0.0417 | 1000 | c.371 others(1017): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar |