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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGTGT others(1789): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03491.hp2 |
a0001 | a0001c0003a0001c0033 | a0001c0003t0001a0001c0033t0008 | a0001c0003t0001g0139 a0001c0033t0008g0146 |
2 | 161 | 0.0124 | 1796 | c.198 others(1813): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588165 | A | ACCCACAG others(1789): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0231 | 1 | 327 | 0.0031 | 1796 | c.928 others(1811): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355563 | G | GGAGAAAG others(1789): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0029 | a0029c0029 | a0029c0029t0001 | a0029c0029t0001g0024 | 1 | 63 | 0.0159 | 1796 | c.757 others(1811): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1789): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0071 | 1 | 95 | 0.0105 | 1796 | c.*11 others(1817): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(1789): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 71 | 0.0141 | 1796 | c.153 others(1815): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(1789): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0235 | 1 | 215 | 0.0047 | 1796 | c.129 others(1813): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1789): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG02258.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0007g0066 others(7): Show |
10 | 12 | 0.8333 | 1796 | c.-12 others(1815): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1789): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 5 | 0.2000 | 1796 | c.189 others(1815): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1789): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 217 | 0.0046 | 1796 | c.-93 others(1813): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286557 | T | TGTCTGGA others(1789): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0087 a0001c0001t0006g0187 |
2 | 242 | 0.0083 | 1796 | c.774 others(1813): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(1789): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0156 | 1 | 20 | 0.0500 | 1796 | c.206 others(1815): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCGTGCAC others(1789): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0208 | 1 | 149 | 0.0067 | 1796 | c.129 others(1813): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGTGT others(1790): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG03209.hp2 |
a0002 | a0002c0019 | a0002c0019t0002 | a0002c0019t0002g0122 a0002c0019t0002g0124 a0002c0019t0002g0125 |
3 | 162 | 0.0185 | 1797 | c.198 others(1814): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGTGT others(1790): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 | 1 | 160 | 0.0063 | 1797 | c.198 others(1814): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGTGT others(1790): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0290 | 1 | 160 | 0.0063 | 1797 | c.198 others(1814): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGTGT others(1790): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0173 | 1 | 160 | 0.0063 | 1797 | c.198 others(1814): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGTGT others(1790): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0032 | a0001c0032t0006 | a0001c0032t0006g0332 | 1 | 160 | 0.0063 | 1797 | c.198 others(1814): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882475 | G | GGGGGAGA others(1790): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 244 | 0.0041 | 1797 | c.303 others(1816): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1790): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0014 | a0001c0014t0033 | a0001c0014t0033g0061 | 1 | 24 | 0.0417 | 1797 | c.366 others(1816): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280690 | T | TTATTTTA others(1790): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0219 | 1 | 385 | 0.0026 | 1797 | c.41- others(1812): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1790): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 | 1 | 210 | 0.0048 | 1797 | c.292 others(1816): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1790): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 3 | 0.3333 | 1797 | c.-12 others(1816): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1790): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0061 | 1 | 3 | 0.3333 | 1797 | c.-12 others(1816): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1790): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0019 | a0019c0066 | a0019c0066t0004 | a0019c0066t0004g0318 | 1 | 12 | 0.0833 | 1797 | c.228 others(1814): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1790): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01069.hp1 HG01070.hp1 others(38): Show |
a0001a0002a0004others(6): Show | a0001c0003a0001c0005a0002c0002others(10): Show | a0001c0003t0001a0001c0005t0001a0002c0002t0001others(10): Show | a0001c0003t0001g0053 a0001c0003t0001g0069 a0001c0003t0001g0071 others(34): Show |
41 | 52 | 0.7885 | 1797 | c.228 others(1814): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1790): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG02135.hp1 others(4): Show |
a0001a0004 | a0001c0003a0004c0004a0004c0007 | a0001c0003t0001a0004c0004t0001a0004c0007t0001 | a0001c0003t0001g0080 a0004c0004t0001g0287 a0004c0004t0001g0293 others(4): Show |
7 | 18 | 0.3889 | 1797 | c.228 others(1814): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1790): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0008 | a0008c0129 | a0008c0129t0001 | a0008c0129t0001g0235 | 1 | 12 | 0.0833 | 1797 | c.228 others(1814): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1790): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0007 | a0007c0039 | a0007c0039t0001 | a0007c0039t0001g0026 | 1 | 12 | 0.0833 | 1797 | c.228 others(1814): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1790): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0295 | 1 | 12 | 0.0833 | 1797 | c.228 others(1814): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1790): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 5 | 0.2000 | 1797 | c.189 others(1816): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 266799 | C | CGTGCAGT others(1790): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0308 | 1 | 331 | 0.0030 | 1797 | c.-49 others(1808): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4846 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 266799 | C | CGTGCAGT others(1790): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0269 | 1 | 331 | 0.0030 | 1797 | c.-49 others(1808): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4846 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 266799 | C | CGTGCAGT others(1790): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG03471.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020 a0001c0001t0005g0270 |
3 | 333 | 0.0090 | 1797 | c.-49 others(1808): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4846 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 266819 | C | CTCTGCGT others(1790): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02886.hp2 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0021 a0003c0005t0004g0303 a0003c0005t0004g0304 others(3): Show |
7 | 322 | 0.0217 | 1797 | c.-49 others(1808): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4826 | chr5 | TogoVar | |||||||
PIAS4_chr19_4002736_4044386 | 4035959 | A | ACACCCGC others(1790): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0203 | 1 | 3 | 0.3333 | 1797 | c.114 others(1816): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298403 | A | ACATGGGG others(1790): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0005 | a0002c0005t0026 | a0002c0005t0026g0031 | 1 | 171 | 0.0058 | 1797 | c.734 others(1812): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 363683 | A | AAGCCCGC others(1790): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0004 | 1 | 5 | 0.2000 | 1797 | c.325 others(1814): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(1791): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0032 | a0032c0089 | a0032c0089t0005 | a0032c0089t0005g0262 | 1 | 103 | 0.0097 | 1798 | c.300 others(1815): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173004 | T | TCACCAAC others(1791): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0018 | a0003c0018t0003 | a0003c0018t0003g0015 | 1 | 150 | 0.0067 | 1798 | c.*11 others(1819): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1791): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0059 | 1 | 3 | 0.3333 | 1798 | c.-12 others(1817): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1791): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0060 | 1 | 3 | 0.3333 | 1798 | c.-12 others(1817): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518571 | T | TCCCCTTC others(1791): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0058 | 1 | 192 | 0.0052 | 1798 | c.-12 others(1817): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1791): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0286 | 1 | 12 | 0.0833 | 1798 | c.228 others(1815): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(1791): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0098 | 1 | 154 | 0.0065 | 1798 | c.360 others(1817): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502691 | A | ATGTGGGA others(1791): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 | 1 | 170 | 0.0059 | 1798 | c.147 others(1815): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1791): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 126 | 0.0079 | 1798 | c.45- others(1813): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325098 | C | CGGGGGGG others(1791): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 135 | 0.0074 | 1798 | c.531 others(1815): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311760 | A | ACTCACCT others(1791): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0063 a0001c0003t0010g0064 a0001c0003t0010g0065 |
3 | 181 | 0.0166 | 1798 | c.327 others(1815): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGTGT others(1792): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02970.hp1 HG03516.hp2 |
a0010a0023 | a0010c0035a0023c0041 | a0010c0035t0002a0023c0041t0002 | a0010c0035t0002g0212 a0010c0035t0002g0213 a0023c0041t0002g0214 |
3 | 162 | 0.0185 | 1799 | c.198 others(1816): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGTGT others(1792): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG00738.hp1 others(9): Show |
a0001a0019a0029 | a0001c0008a0001c0074a0001c0077others(2): Show | a0001c0008t0004a0001c0074t0004a0001c0077t0004others(2): Show | a0001c0008t0004g0110 a0001c0008t0004g0111 a0001c0008t0004g0112 others(9): Show |
12 | 171 | 0.0702 | 1799 | c.198 others(1816): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |