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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXK2_chr17_82514732_82609602 | 82586501 | G | GGGGGGGA others(7495): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0019 | a0019c0008 | a0019c0008t0003 | a0019c0008t0003g0003 | 1 | 301 | 0.0033 | 7502 | c.157 others(7519): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(7498): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 3 | 0.3333 | 7505 | c.-34 others(7520): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693724 | C | CCTCCACC others(7509): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 293 | 0.0034 | 7516 | c.*67 others(7527): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4922 | chr20 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251241 | A | ACATCCCC others(7513): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 70 | 0.0143 | 7520 | c.207 others(7539): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217800393 | G | GAAAGAGT others(7514): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0073 | 1 | 249 | 0.0040 | 7521 | c.873 others(7538): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217800393 | G | GAAAGAGT others(7515): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0071 | 1 | 249 | 0.0040 | 7522 | c.873 others(7539): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693729 | A | ACCACCAC others(7518): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0048 | 1 | 167 | 0.0060 | 7525 | c.*67 others(7536): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4917 | chr20 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7520): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0009 | a0009c0024 | a0009c0024t0002 | a0009c0024t0002g0155 | 1 | 153 | 0.0065 | 7527 | c.179 others(7546): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7520): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 153 | 0.0065 | 7527 | c.179 others(7546): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7520): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 153 | 0.0065 | 7527 | c.179 others(7546): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7520): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 153 | 0.0065 | 7527 | c.179 others(7546): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7523): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0139 | 1 | 153 | 0.0065 | 7530 | c.179 others(7549): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7523): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 153 | 0.0065 | 7530 | c.179 others(7549): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7523): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 153 | 0.0065 | 7530 | c.179 others(7549): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7523): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 153 | 0.0065 | 7530 | c.179 others(7549): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7523): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 153 | 0.0065 | 7530 | c.179 others(7549): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7523): Show |
intron_variant | MODIFIER | HG02273.hp2 HG03654.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 a0001c0001t0002g0195 a0001c0001t0002g0198 |
3 | 155 | 0.0194 | 7530 | c.179 others(7549): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7523): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 153 | 0.0065 | 7530 | c.179 others(7549): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7523): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 153 | 0.0065 | 7530 | c.179 others(7549): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7523): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0175 | 1 | 153 | 0.0065 | 7530 | c.179 others(7549): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7523): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 153 | 0.0065 | 7530 | c.179 others(7549): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693732 | T | TCCACCCA others(7525): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 9 | 0.1111 | 7532 | c.299 others(7549): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TNFRSF6B_chr20_63691652_63703684 | 63693732 | T | TCCACCCA others(7525): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 7532 | c.-30 others(7543): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2919 | chr20 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1099615 | G | GTTCTAAG others(7530): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 210 | 0.0048 | 7537 | c.-13 others(7556): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168595092 | C | CGGGCATC others(7541): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 112 | 0.0089 | 7548 | c.638 others(7565): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(7547): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0136 | 1 | 9 | 0.1111 | 7554 | c.565 others(7571): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(7553): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0121 | 1 | 216 | 0.0046 | 7560 | c.129 others(7577): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(7555): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 42 | 0.0238 | 7562 | c.139 others(7583): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7561): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 153 | 0.0065 | 7568 | c.179 others(7587): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328404 | T | CATGATGA others(7562): Show |
intron_variant | MODIFIER | HG03688.hp1 HG04184.hp1 |
a0001a0005 | a0001c0001a0005c0021 | a0001c0001t0001a0005c0021t0001 | a0001c0001t0001g0009 a0005c0021t0001g0070 |
2 | 75 | 0.0267 | 7569 | c.199 others(7588): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328372 | T | CATGATGA others(7565): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 | 1 | 73 | 0.0137 | 7572 | c.199 others(7591): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251257 | C | CCCCACAC others(7569): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 112 | 0.0089 | 7576 | c.207 others(7595): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7450664 | A | ATTTCCGA others(7575): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0003 | a0003c0003 | a0003c0003t0026 | a0003c0003t0026g0085 | 1 | 84 | 0.0119 | 7582 | c.173 others(7599): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328402 | C | AATATGAT others(7584): Show |
intron_variant | MODIFIER | HG01993.hp1 HG03017.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0016 a0002c0002t0001g0045 |
2 | 74 | 0.0270 | 7591 | c.199 others(7610): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328402 | C | AATATGAT others(7584): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 73 | 0.0137 | 7591 | c.199 others(7610): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ACAGGGTG others(7589): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0179 | 1 | 325 | 0.0031 | 7596 | c.101 others(7613): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
DET1_chr15_88507480_88551681 | 88545911 | G | GTCCCCAA others(7590): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 400 | 0.0025 | 7597 | c.-11 others(7612): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7591): Show |
frameshift_variant others(1): Show |
HIGH | HG03471.hp2 | a0005 | a0005c0063 | a0005c0063t0001 | a0005c0063t0001g0000 | 1 | 43 | 0.0233 | 7598 | c.590 others(7605): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
EXD3_chr9_137301896_137428162 | 137328404 | T | CATGATGA others(7593): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 74 | 0.0135 | 7600 | c.199 others(7619): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328372 | T | CATGATGA others(7594): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 73 | 0.0137 | 7601 | c.199 others(7620): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7594): Show |
frameshift_variant others(1): Show |
HIGH | HG02895.hp2 | a0002 | a0002c0030 | a0002c0030t0001 | a0002c0030t0001g0000 | 1 | 43 | 0.0233 | 7601 | c.590 others(7608): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7594): Show |
frameshift_variant others(1): Show |
HIGH | HG03491.hp1 HG03492.hp1 |
a0002 | a0002c0019 | a0002c0019t0001 | a0002c0019t0001g0000 | 2 | 44 | 0.0455 | 7601 | c.590 others(7608): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7594): Show |
frameshift_variant others(1): Show |
HIGH | HG02896.hp2 | a0001 | a0001c0051 | a0001c0051t0001 | a0001c0051t0001g0000 | 1 | 43 | 0.0233 | 7601 | c.492 others(7608): Show |
p.Arg others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(7594): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0037 | a0037c0108 | a0037c0108t0001 | a0037c0108t0001g0138 | 1 | 34 | 0.0294 | 7601 | c.299 others(7616): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(7595): Show |
conservative_inframe_insertion | MODERATE | HG00733.hp1 HG01074.hp1 HG01515.hp1 others(1): Show |
a0001 | a0001c0026a0001c0103 | a0001c0026t0002a0001c0103t0002 | a0001c0026t0002g0023 a0001c0103t0002g0068 |
4 | 5 | 0.8000 | 7602 | c.481 others(7611): Show |
p.Ser others(7617): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | |||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7595): Show |
stop_gained others(1): Show |
HIGH | HG01891.hp1 HG02965.hp1 |
a0005 | a0005c0066a0005c0067 | a0005c0066t0001a0005c0067t0001 | a0005c0066t0001g0000 a0005c0067t0001g0000 |
2 | 44 | 0.0455 | 7602 | c.590 others(7609): Show |
p.Leu others(7615): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(7596): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 a0001c0001t0002g0183 |
2 | 154 | 0.0130 | 7603 | c.179 others(7622): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG02809.hp2 | a0005 | a0005c0068 | a0005c0068t0001 | a0005c0068t0001g0000 | 1 | 43 | 0.0233 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG02896.hp1 HG03471.hp1 |
a0005 | a0005c0027 | a0005c0027t0001 | a0005c0027t0001g0000 | 2 | 44 | 0.0455 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp1 HG01433.hp2 others(2): Show |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0000 | 5 | 47 | 0.1064 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |