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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(904): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0033 | 1 | 6 | 0.1667 | 911 | c.-17 others(930): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(904): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0022 | 1 | 6 | 0.1667 | 911 | c.-17 others(930): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(904): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 10 | 0.1000 | 911 | c.310 others(926): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323186 | A | ATATGGAA others(904): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169 | 1 | 317 | 0.0032 | 911 | c.-18 others(922): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1783 | chr21 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(904): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 13 | 0.0769 | 911 | c.978 others(928): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(904): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0197 | 1 | 5 | 0.2000 | 911 | c.-41 others(926): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79886131 | G | GGGAGATG others(904): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18990.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 a0002c0002t0002g0259 |
2 | 308 | 0.0065 | 911 | c.625 others(930): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79886131 | G | GGGAGATG others(904): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0099 | 1 | 307 | 0.0033 | 911 | c.625 others(930): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(904): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0199 | 1 | 162 | 0.0062 | 911 | c.-19 others(922): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(904): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0005 | 1 | 16 | 0.0625 | 911 | c.56- others(928): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(904): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 391 | 0.0026 | 911 | c.-28 others(922): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(904): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0083 | 1 | 10 | 0.1000 | 911 | c.180 others(930): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139726624 | C | CAAAAAAG others(904): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0004 | a0001c0004t0024 | a0001c0004t0024g0001 | 1 | 146 | 0.0068 | 911 | c.233 others(928): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544991 | T | TGGGGGGA others(904): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0122 | 1 | 259 | 0.0039 | 911 | c.154 others(930): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(904): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 8 | 0.1250 | 911 | c.250 others(926): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(904): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0073 | 1 | 44 | 0.0227 | 911 | c.133 others(930): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(904): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0324 | 1 | 2 | 0.5000 | 911 | c.734 others(928): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(904): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19076.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0323 a0001c0002t0002g0172 |
2 | 3 | 0.6667 | 911 | c.734 others(928): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(904): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0317 | 1 | 2 | 0.5000 | 911 | c.734 others(928): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 204735049 | C | CAAGATTT others(904): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02622.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0015a0002c0004others(3): Show | a0001c0001t0004a0001c0015t0017a0002c0004t0014others(3): Show | a0001c0001t0004g0017 a0001c0015t0017g0015 a0002c0004t0014g0016 others(3): Show |
6 | 51 | 0.1176 | 911 | c.222 others(930): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(904): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01884.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0004t0003a0001c0007t0004 | a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0004t0003g0214 others(1): Show |
4 | 45 | 0.0889 | 911 | c.916 others(928): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(904): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG01934.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0005a0001c0004t0006 | a0001c0002t0001g0187 a0001c0002t0001g0245 a0001c0002t0001g0257 others(2): Show |
5 | 46 | 0.1087 | 911 | c.916 others(928): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(904): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0008 | a0001c0008t0010 | a0001c0008t0010g0054 | 1 | 42 | 0.0238 | 911 | c.916 others(928): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(904): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0103 | 1 | 42 | 0.0238 | 911 | c.916 others(928): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(904): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01496.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0229 a0001c0002t0001g0237 |
2 | 43 | 0.0465 | 911 | c.916 others(928): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(904): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0008 | a0008c0030 | a0008c0030t0006 | a0008c0030t0006g0040 | 1 | 42 | 0.0238 | 911 | c.916 others(928): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(904): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0067 | 1 | 42 | 0.0238 | 911 | c.916 others(928): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(904): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(15): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(8): Show | a0001c0002t0001g0153 a0001c0002t0001g0219 a0001c0002t0002g0102 others(15): Show |
18 | 59 | 0.3051 | 911 | c.916 others(928): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SLC31A1_chr9_113216544_113269492 | 113250305 | T | TAAGAAAA others(904): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0284 | 1 | 375 | 0.0027 | 911 | c.-35 others(928): Show |
SLC31A1 | ENSG00000136868.11 | transcript | ENST00000374212.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(904): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0318 | 1 | 283 | 0.0035 | 911 | c.-12 others(922): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(904): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 312 | 0.0032 | 911 | c.115 others(928): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246072066 | G | GTTAGTTC others(904): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0135 | 1 | 52 | 0.0192 | 911 | c.532 others(932): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028864 | C | CCCCATCA others(904): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0094 | 1 | 199 | 0.0050 | 911 | c.225 others(930): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(904): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 50 | 0.0200 | 911 | c.*24 others(922): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870126 | A | ACACACCA others(904): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 290 | 0.0034 | 911 | c.*35 others(930): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(904): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0131 | 1 | 341 | 0.0029 | 911 | c.-6- others(926): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(904): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0152 | 1 | 341 | 0.0029 | 911 | c.-6- others(926): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(904): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0158 | 1 | 341 | 0.0029 | 911 | c.-6- others(926): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(904): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0142 | 1 | 341 | 0.0029 | 911 | c.-6- others(926): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(904): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0139 | 1 | 341 | 0.0029 | 911 | c.-6- others(926): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(905): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02055.hp2 HG02809.hp1 others(3): Show |
a0033a0036a0046others(3): Show | a0033c0096a0036c0100a0046c0098others(3): Show | a0033c0096t0001a0036c0100t0005a0046c0098t0006others(3): Show | a0033c0096t0001g0100 a0036c0100t0005g0097 a0046c0098t0006g0098 others(3): Show |
6 | 298 | 0.0201 | 912 | c.170 others(933): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM8_chr10_133257423_133281868 | 133265029 | C | CTCCTGCT others(905): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02970.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0002a0001c0025 | a0001c0002t0001a0001c0025t0001 | a0001c0002t0001g0017 a0001c0025t0001g0131 |
4 | 384 | 0.0104 | 912 | c.232 others(931): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 21/22 | chr10 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100162443 | T | TTATGTGT others(905): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0004 | a0004c0075 | a0004c0075t0001 | a0004c0075t0001g0186 | 1 | 226 | 0.0044 | 912 | c.118 others(931): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113412924 | A | ACTCGGTT others(905): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0004 | a0004c0009 | a0004c0009t0011 | a0004c0009t0011g0171 | 1 | 199 | 0.0050 | 912 | c.106 others(931): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(905): Show |
intron_variant | MODIFIER | NA19011.hp1 NA19055.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0103 a0001c0002t0003g0128 |
2 | 89 | 0.0225 | 912 | c.225 others(929): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687440 | A | ACCCCGTG others(905): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 220 | 0.0045 | 912 | c.-18 others(923): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1595 | chr8 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79146424 | T | TGGCGGTG others(905): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02257.hp1 others(1): Show |
a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0165 a0005c0009t0005g0167 a0005c0009t0005g0168 others(1): Show |
4 | 193 | 0.0207 | 912 | c.726 others(929): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79146434 | G | GAGAGTGA others(905): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0166 | 1 | 296 | 0.0034 | 912 | c.726 others(929): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 384908 | T | TGGGCAAG others(905): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 61 | 0.0328 | 912 | c.*31 others(923): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2792 | chr11 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181712 | C | CACACATA others(905): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 324 | 0.0031 | 912 | c.193 others(929): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |