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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRP_chr18_59215158_59235771 | 59234327 | AACATATT others(83): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01106.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0025 |
9 | 252 | 0.0357 | -90 | c.*38 others(101): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3557 | chr18 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59234362 | AACATATT others(83): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02300.hp1 HG02602.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0063 |
7 | 390 | 0.0179 | -90 | c.*38 others(101): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3592 | chr18 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346405 | CAGACCTG others(83): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 250 | 0.0040 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346526 | AGACCCGG others(83): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 241 | 0.0041 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346561 | CAGGAGGA others(83): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01261.hp2 HG01346.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 others(2): Show |
5 | 267 | 0.0187 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346562 | AGGAGGAC others(83): Show |
A | intron_variant | MODIFIER | HG02717.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 a0001c0001t0001g0231 |
2 | 190 | 0.0105 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346785 | GCAAAGAG others(83): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 271 | 0.0037 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346829 | CGGGAGGA others(83): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 253 | 0.0040 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346877 | TGACAGTG others(83): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG02004.hp1 HG02965.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0002g0036 others(2): Show |
5 | 189 | 0.0265 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347063 | TCTGGGAG others(83): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 251 | 0.0040 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347155 | CGGGAGGA others(83): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(18): Show |
21 | 268 | 0.0784 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347186 | AGGAGGAC others(83): Show |
A | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 113 | 0.0088 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347266 | GAGCAGAC others(83): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG02280.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0023 |
3 | 281 | 0.0107 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347328 | AGACCCGG others(83): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0211 others(1): Show |
4 | 279 | 0.0143 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347371 | CCTCTGAA others(83): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 286 | 0.0035 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347589 | TGAGAACA others(83): Show |
T | intron_variant | MODIFIER | HG03209.hp1 NA18970.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0146 a0001c0001t0001g0221 a0001c0001t0003g0166 |
3 | 244 | 0.0123 | -90 | c.466 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347851 | TGGCCAAG others(83): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0267 a0001c0001t0003g0268 |
2 | 286 | 0.0070 | -90 | c.465 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113353105 | ACCCAGCC others(83): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02145.hp2 HG02698.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031 a0001c0001t0001g0139 a0001c0001t0001g0140 others(11): Show |
14 | 286 | 0.0490 | -90 | c.340 others(107): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
GSTM4_chr1_109651099_109666700 | 109654114 | AAAGAAAG others(83): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG02040.hp2 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0003others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0007g0029 others(4): Show |
10 | 346 | 0.0289 | -90 | c.-22 others(101): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1984 | chr1 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696951 | ATATATAA others(83): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 208 | 0.0048 | -90 | c.-59 others(99): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 353 | chr12 | TogoVar | |||||||
H4C11_chr6_27819092_27829480 | 27826714 | TGGCCGGG others(83): Show |
T | downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 396 | 0.0025 | -90 | c.*22 others(101): Show |
H4C11 | ENSG00000197238.5 | transcript | ENST00000355057.3 | protein_coding | 2235 | chr6 | TogoVar | |||||||
H4C12_chr6_27826174_27836560 | 27826714 | TGGCCGGG others(83): Show |
T | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -90 | c.*44 others(101): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 4459 | chr6 | TogoVar | |||||||
HADH_chr4_107984889_108040171 | 108038933 | AGTCTCAG others(83): Show |
A | downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 | 1 | 302 | 0.0033 | -90 | c.*45 others(101): Show |
HADH | ENSG00000138796.18 | transcript | ENST00000309522.8 | protein_coding | 3763 | chr4 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239179016 | TGTGCGAG others(83): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0015 | a0001c0015t0047 | a0001c0015t0047g0039 | 1 | 240 | 0.0042 | -90 | c.340 others(107): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 4/26 | chr2 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75663938 | ATATATAT others(83): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0222 | 1 | 234 | 0.0043 | -90 | c.121 others(109): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HMOX1_chr22_35376096_35399207 | 35389340 | TCTCCTTC others(83): Show |
T | intron_variant | MODIFIER | NA18953.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0044 a0001c0001t0012g0041 |
2 | 373 | 0.0054 | -90 | c.637 others(105): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
HRC_chr19_49146198_49160396 | 49156879 | CTCTCTCT others(83): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02723.hp2 |
a0006a0033 | a0006c0006a0033c0030 | a0006c0006t0001a0033c0030t0001 | a0006c0006t0001g0005 a0033c0030t0001g0044 |
2 | 404 | 0.0050 | -90 | c.-17 others(101): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1484 | chr19 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102349251 | AGCTATTG others(83): Show |
A | splice_region_variant others(1): Show |
LOW | HG03017.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0106 | 1 | 346 | 0.0029 | -90 | c.128 others(104): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 10/10 | chr2 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1367212 | AGCGGGGT others(83): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 89 | 0.0112 | -90 | c.874 others(107): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1367248 | CGCCGGGT others(83): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01433.hp2 HG02257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0104 a0001c0001t0003g0011 others(4): Show |
7 | 98 | 0.0714 | -90 | c.874 others(107): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INCENP_chr11_62119011_62158169 | 62122832 | CCCGGCCA others(83): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0006others(27): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 others(124): Show |
240 | 356 | 0.6742 | -90 | c.-13 others(101): Show |
INCENP | ENSG00000149503.13 | transcript | ENST00000394818.8 | protein_coding | 1178 | chr11 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 143581 | AGTTCATG others(83): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0041 | a0001c0041t0051 | a0001c0041t0051g0072 | 1 | 276 | 0.0036 | -90 | c.215 others(109): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4619607 | TCTGCCCT others(83): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02723.hp2 NA19240.hp2 |
a0001 | a0001c0002a0001c0059a0001c0073 | a0001c0002t0006a0001c0059t0011a0001c0073t0001 | a0001c0002t0006g0082 a0001c0059t0011g0067 a0001c0073t0001g0128 |
3 | 172 | 0.0174 | -90 | c.164 others(107): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITSN2_chr2_24197864_24365536 | 24251379 | GTATGTGT others(83): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 176 | 0.0057 | -90 | c.312 others(107): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | |||||||
KBTBD11_chr8_1968677_2011936 | 2009680 | GCCCCCAC others(83): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0064 a0001c0001t0007g0025 a0001c0001t0007g0264 others(1): Show |
4 | 388 | 0.0103 | -90 | c.*66 others(101): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 2745 | chr8 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21519496 | GTATGTGT others(83): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0077 | 1 | 80 | 0.0125 | -90 | c.61+ others(109): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178757277 | CATATATC others(83): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 232 | 0.0043 | -90 | c.-67 others(109): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178760002 | ATATATAT others(83): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 232 | 0.0043 | -90 | c.-67 others(109): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63431971 | GCCCCACC others(83): Show |
G | intron_variant | MODIFIER | HG03471.hp1 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0071 | a0001c0002t0011g0040 a0001c0002t0071g0234 |
2 | 328 | 0.0061 | -90 | c.111 others(107): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63432512 | ATCCACCC others(83): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00673.hp2 others(18): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0006 | a0001c0002t0009a0001c0003t0003a0001c0003t0009others(4): Show | a0001c0002t0009g0189 a0001c0003t0003g0277 a0001c0003t0003g0279 others(18): Show |
21 | 328 | 0.0640 | -90 | c.111 others(109): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429054 | TATATGTT others(83): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02004.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014a0001c0001t0056others(1): Show | a0001c0001t0012g0128 a0001c0001t0014g0033 a0001c0001t0014g0038 others(3): Show |
8 | 384 | 0.0208 | -90 | c.-44 others(101): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4244 | chr19 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240779370 | TCACTCAG others(83): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0022 | a0001c0022t0004 | a0001c0022t0004g0159 | 1 | 324 | 0.0031 | -90 | c.882 others(107): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KIF4A_chrX_70285104_70425886 | 70373685 | TATATATA others(83): Show |
T | intron_variant | MODIFIER | NA18950.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0166 |
2 | 256 | 0.0078 | -90 | c.167 others(107): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133222460 | TGTGAGAG others(83): Show |
T | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0210 | 1 | 328 | 0.0030 | -90 | c.501 others(109): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133223415 | GTGTGTGT others(83): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(131): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0068others(35): Show | a0001c0001t0002a0001c0004t0002a0001c0068t0002others(40): Show | a0001c0001t0002g0086 a0001c0001t0002g0191 a0001c0001t0002g0204 others(128): Show |
134 | 330 | 0.4061 | -90 | c.501 others(109): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KRTAP2-1_chr17_41041541_41052316 | 41046788 | TGCTCAGC others(83): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0000 | 1 | 405 | 0.0025 | -90 | c.*3_ others(96): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 1/1 | 3 | chr17 | TogoVar | ||||||
KRTAP21-2_chr21_30741794_30752259 | 30743531 | TATATATA others(83): Show |
T | downstream_gene_variant | MODIFIER | NA18946.hp2 NA18978.hp1 NA19006.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 3 | 378 | 0.0079 | -90 | c.*33 others(101): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 3262 | chr21 | TogoVar | |||||||
KRTAP4-3_chr17_41162231_41173221 | 41167852 | AGAAATGC others(83): Show |
A | disruptive_inframe_deletion | MODERATE | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(169): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0000 a0001c0008t0001g0000 |
172 | 408 | 0.4216 | -90 | c.231 others(97): Show |
p.Ser others(12): Show |
KRTAP4-3 | ENSG00000196156.5 | transcript | ENST00000391356.4 | protein_coding | 1/1 | 369/991 | 231/588 | 77/195 | chr17 | TogoVar | |||
LARP1_chr5_154750377_154822605 | 154805312 | TAGCAGGC others(83): Show |
T | intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 288 | 0.0035 | -90 | c.254 others(107): Show |
LARP1 | ENSG00000155506.19 | transcript | ENST00000518297.6 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LAT2_chr7_74205006_74234834 | 74214471 | AATATATA others(83): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 288 | 0.0035 | -90 | c.-21 others(107): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |