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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GJD4_chr10_35600341_35613935 | 35610827 | C | CAAATAAC others(1722): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02723.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0029 |
6 | 185 | 0.0324 | 1729 | c.*22 others(1740): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 1893 | chr10 | TogoVar | |||||||
GJD4_chr10_35600341_35613935 | 35610827 | C | CAAATAAC others(1722): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01109.hp2 others(4): Show |
a0001a0004 | a0001c0003a0004c0008 | a0001c0003t0001a0001c0003t0009a0004c0008t0001 | a0001c0003t0001g0001 a0001c0003t0001g0023 a0001c0003t0009g0001 others(1): Show |
7 | 186 | 0.0376 | 1729 | c.*22 others(1740): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 1893 | chr10 | TogoVar | |||||||
GJD4_chr10_35600341_35613935 | 35610827 | C | CAAATAAC others(1722): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 180 | 0.0056 | 1729 | c.*22 others(1740): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 1893 | chr10 | TogoVar | |||||||
GJD4_chr10_35600341_35613935 | 35610827 | C | CAAATAAC others(1722): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 180 | 0.0056 | 1729 | c.*22 others(1740): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 1893 | chr10 | TogoVar | |||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1722): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0139 | 1 | 27 | 0.0370 | 1729 | c.147 others(1748): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1722): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 a0001c0001t0002g0147 |
2 | 28 | 0.0714 | 1729 | c.147 others(1748): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1722): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02559.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0146 a0001c0003t0002g0017 a0001c0003t0002g0140 others(3): Show |
6 | 32 | 0.1875 | 1729 | c.147 others(1748): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1722): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0156 a0001c0003t0002g0134 a0001c0003t0002g0135 others(3): Show |
6 | 32 | 0.1875 | 1729 | c.147 others(1748): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1722): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 27 | 0.0370 | 1729 | c.147 others(1748): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1722): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 27 | 0.0370 | 1729 | c.147 others(1748): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1722): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0147 | 1 | 11 | 0.0909 | 1729 | c.104 others(1748): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28189641 | A | AAGGAAGG others(1722): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0057 | 1 | 52 | 0.0192 | 1729 | c.-36 others(1750): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1722): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0172 | 1 | 32 | 0.0313 | 1729 | c.218 others(1744): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1722): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0284 | 1 | 12 | 0.0833 | 1729 | c.228 others(1746): 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(1722): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0124 | a0002c0124t0001 | a0002c0124t0001g0332 | 1 | 12 | 0.0833 | 1729 | c.228 others(1746): 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(1722): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18995.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 a0002c0002t0001g0261 |
2 | 13 | 0.1538 | 1729 | c.228 others(1746): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGG others(1722): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 154 | 0.0065 | 1729 | c.360 others(1748): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1722): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19012.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0080 a0002c0001t0001g0094 |
2 | 19 | 0.1053 | 1729 | c.-28 others(1748): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1722): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0096 | 1 | 18 | 0.0556 | 1729 | c.-28 others(1748): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1722): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02809.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 |
3 | 23 | 0.1304 | 1729 | c.127 others(1746): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ZNF624_chr17_16615734_16658850 | 16630888 | T | TAAAAAAT others(1722): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0225 | 1 | 373 | 0.0027 | 1729 | c.376 others(1746): Show |
ZNF624 | ENSG00000197566.10 | transcript | ENST00000311331.12 | protein_coding | 5/5 | chr17 | TogoVar | |||||||
ZNF624_chr17_16615734_16658850 | 16630888 | T | TAAAAAAT others(1722): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0226 | 1 | 373 | 0.0027 | 1729 | c.376 others(1746): Show |
ZNF624 | ENSG00000197566.10 | transcript | ENST00000311331.12 | protein_coding | 5/5 | chr17 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1723): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 2 | 0.5000 | 1730 | c.44- others(1743): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635197 | C | CCTTTCCC others(1723): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 244 | 0.0041 | 1730 | c.105 others(1745): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(1723): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0045 | a0002c0045t0001 | a0002c0045t0001g0081 | 1 | 260 | 0.0038 | 1730 | c.228 others(1747): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(1723): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0352 | 1 | 335 | 0.0030 | 1730 | c.-50 others(1741): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(1723): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0133 | 1 | 3 | 0.3333 | 1730 | c.-16 others(1741): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | |||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1723): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0143 | 1 | 27 | 0.0370 | 1730 | c.147 others(1749): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1723): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 27 | 0.0370 | 1730 | c.147 others(1749): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1723): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02630.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 others(3): Show |
6 | 32 | 0.1875 | 1730 | c.147 others(1749): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1723): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 27 | 0.0370 | 1730 | c.147 others(1749): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952494 | T | TGGGGGGG others(1723): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0174 | 1 | 222 | 0.0045 | 1730 | c.360 others(1749): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492490 | C | CCGGGGAG others(1723): Show |
intron_variant | MODIFIER | NA18977.hp1 NA18981.hp1 NA18981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0003g0215 a0001c0001t0003g0216 others(1): Show |
4 | 253 | 0.0158 | 1730 | c.126 others(1749): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311790 | G | GTGCGTTG others(1723): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 a0001c0001t0002g0264 |
2 | 316 | 0.0063 | 1730 | c.327 others(1747): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1723): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 50 | 0.0200 | 1730 | c.*24 others(1741): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACACCC others(1723): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 305 | 0.0033 | 1730 | c.*35 others(1749): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88501492 | C | CATCCCGC others(1723): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0010 | a0010c0040 | a0010c0040t0042 | a0010c0040t0042g0014 | 1 | 271 | 0.0037 | 1730 | c.268 others(1749): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1723): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0004 | a0004c0004t0015 | a0004c0004t0015g0033 | 1 | 35 | 0.0286 | 1730 | c.-28 others(1749): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ZNF624_chr17_16615734_16658850 | 16630888 | T | TAAAAAAT others(1723): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0227 | 1 | 373 | 0.0027 | 1730 | c.376 others(1747): Show |
ZNF624 | ENSG00000197566.10 | transcript | ENST00000311331.12 | protein_coding | 5/5 | chr17 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1724): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0005 | a0002c0005t0020 | a0002c0005t0020g0006 | 1 | 3 | 0.3333 | 1731 | c.219 others(1750): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1724): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0003 | a0002c0003t0032 | a0002c0003t0032g0109 | 1 | 3 | 0.3333 | 1731 | c.219 others(1750): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
KCNK16_chr6_39311171_39327702 | 39327326 | G | GAGAGAGA others(1724): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 454 | 0.0022 | 1731 | c.-47 others(1742): Show |
KCNK16 | ENSG00000095981.11 | transcript | ENST00000437525.3 | protein_coding | 4625 | chr6 | TogoVar | |||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1724): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 27 | 0.0370 | 1731 | c.147 others(1750): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIF6_chr6_39324990_39730408 | 39327326 | G | GAGAGAGA others(1724): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 172 | 0.0058 | 1731 | c.*92 others(1742): Show |
KIF6 | ENSG00000164627.18 | transcript | ENST00000287152.12 | protein_coding | 2663 | chr6 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195783599 | T | TGGTGACA others(1724): Show |
conservative_inframe_insertion | MODERATE | HG04199.hp2 | a0099 | a0099c0132 | a0099c0132t0001 | a0099c0132t0001g0032 | 1 | 117 | 0.0085 | 1731 | c.798 others(1740): Show |
p.Thr others(1746): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8092/16756 | 7980/16239 | 2660/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783599 | T | TGGTGACA others(1724): Show |
conservative_inframe_insertion | MODERATE | HG02895.hp2 | a0079 | a0079c0133 | a0079c0133t0001 | a0079c0133t0001g0016 | 1 | 117 | 0.0085 | 1731 | c.798 others(1740): Show |
p.Thr others(1746): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8092/16756 | 7980/16239 | 2660/5412 | chr3 | TogoVar | |||
NRXN3_chr14_78165373_79873291 | 79257520 | G | GTGGTGGT others(1724): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0001 | 1 | 10 | 0.1000 | 1731 | c.326 others(1754): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811201 | C | CCCTTCCC others(1724): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 163 | 0.0061 | 1731 | c.773 others(1746): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1724): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0155 | 1 | 9 | 0.1111 | 1731 | c.*39 others(1742): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(1724): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 132 | 0.0076 | 1731 | c.126 others(1750): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |