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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPNE7_chr16_89570758_89602246 | 89588154 | G | GCCCGCGT others(202): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18959.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0004 | 2 | 222 | 0.0090 | 209 | c.928 others(224): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924132 | G | GCCCCCCA others(202): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0010 | a0010c0010 | a0010c0010t0003 | a0010c0010t0003g0194 | 1 | 335 | 0.0030 | 209 | c.488 others(226): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924153 | C | CCCACACT others(202): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02056.hp2 HG02300.hp2 others(1): Show |
a0007a0033 | a0007c0007a0033c0049 | a0007c0007t0001a0033c0049t0001 | a0007c0007t0001g0192 a0007c0007t0001g0193 a0007c0007t0001g0208 others(1): Show |
4 | 346 | 0.0116 | 209 | c.488 others(226): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924411 | C | CCCCCCAC others(202): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0002 | a0002c0021 | a0002c0021t0006 | a0002c0021t0006g0083 a0002c0021t0006g0086 |
2 | 324 | 0.0062 | 209 | c.489 others(226): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924444 | G | GCCCCCCA others(202): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0329 | 1 | 292 | 0.0034 | 209 | c.489 others(226): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647459 | G | GCCTCACA others(202): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG02735.hp1 HG03688.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0043 a0001c0001t0001g0046 a0003c0003t0001g0045 |
3 | 267 | 0.0112 | 209 | c.*53 others(220): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2115 | chr15 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3926014 | T | TACACACA others(202): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0019 | a0001c0019t0078 | a0001c0019t0078g0105 | 1 | 68 | 0.0147 | 209 | c.818 others(228): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSNK1G2_chr19_1936172_1986338 | 1967976 | C | CCCAGGCT others(202): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 377 | 0.0027 | 209 | c.-26 others(228): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DCAF10_chr9_37795797_37872664 | 37808748 | A | ATATATAA others(202): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0052 | 1 | 185 | 0.0054 | 209 | c.539 others(226): Show |
DCAF10 | ENSG00000122741.16 | transcript | ENST00000377724.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3704387 | A | AGGGGCGT others(202): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0013 | 1 | 322 | 0.0031 | 209 | c.287 others(224): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197713905 | A | AATATATT others(202): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0075 | 1 | 4 | 0.2500 | 209 | c.126 others(226): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2314304 | G | GAGGGAGG others(202): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0014 | 1 | 45 | 0.0222 | 209 | c.287 others(228): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2314306 | A | AGGAGGGA others(202): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0012 | 1 | 44 | 0.0227 | 209 | c.287 others(228): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 516565 | A | AGGTGGAC others(202): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0023 | a0001c0023t0003 | a0001c0023t0003g0057 | 1 | 59 | 0.0169 | 209 | c.86- others(226): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 608515 | C | CCCCACAC others(202): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0056 | 1 | 58 | 0.0172 | 209 | c.85+ others(226): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522574 | A | ACCCAGCC others(202): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0105 | 1 | 313 | 0.0032 | 209 | c.236 others(228): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522574 | A | ACCCAGCC others(202): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | 1 | 313 | 0.0032 | 209 | c.236 others(228): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522574 | A | ACCCAGCC others(202): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0016 | a0016c0047 | a0016c0047t0002 | a0016c0047t0002g0199 | 1 | 313 | 0.0032 | 209 | c.236 others(228): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522574 | A | ACCCAGCC others(202): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0174 | 1 | 313 | 0.0032 | 209 | c.236 others(228): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522607 | G | GCCCAGCC others(202): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0167 | 1 | 349 | 0.0029 | 209 | c.236 others(228): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNLZ_chr9_136354483_136368744 | 136355026 | A | AGTGACAC others(202): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 209 | c.*69 others(220): Show |
DNLZ | ENSG00000213221.5 | transcript | ENST00000371738.4 | protein_coding | 4456 | chr9 | TogoVar | |||||||
DOP1A_chr6_83062671_83173471 | 83145204 | A | AATATATA others(202): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02132.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0163 a0001c0001t0001g0179 others(1): Show |
4 | 54 | 0.0741 | 209 | c.554 others(226): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83145204 | A | AATATATA others(202): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 51 | 0.0196 | 209 | c.554 others(226): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619398 | C | CCCCCTGC others(202): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 247 | 0.0040 | 209 | c.-10 others(228): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21179796 | A | ATATATAA others(202): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 a0001c0001t0001g0208 |
2 | 189 | 0.0106 | 209 | c.-35 others(220): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2900 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21179800 | A | ATATAATA others(202): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0194 | 1 | 103 | 0.0097 | 209 | c.-35 others(220): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2904 | chr1 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084076 | C | CTATATAT others(202): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0024 | 1 | 210 | 0.0048 | 209 | c.221 others(228): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084076 | C | CTATATAT others(202): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02818.hp2 HG02922.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(6): Show | a0001c0001t0001g0226 a0001c0001t0010g0045 a0001c0001t0010g0047 others(9): Show |
12 | 221 | 0.0543 | 209 | c.221 others(228): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ESF1_chr20_13709325_13789919 | 13733099 | C | CATTTTTT others(202): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 |
3 | 387 | 0.0078 | 209 | c.195 others(226): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 10/13 | chr20 | TogoVar | |||||||
FAM240C_chr2_241888988_241905464 | 241896714 | G | GGGGTGTG others(202): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 27 | 0.0370 | 209 | c.161 others(224): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 59986751 | T | TAAATATA others(202): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03139.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0012 | a0001c0001t0001g0025 a0001c0001t0007g0007 a0001c0001t0012g0022 |
3 | 26 | 0.1154 | 209 | c.279 others(228): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998891 | T | TATTTATA others(202): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0014 | a0014c0031 | a0014c0031t0004 | a0014c0031t0004g0153 | 1 | 246 | 0.0041 | 209 | c.*51 others(220): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4382 | chr13 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77259174 | G | GATGGTGG others(202): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0256 | 1 | 206 | 0.0049 | 209 | c.732 others(226): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240623341 | G | GTGAGGGC others(202): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0010 | 1 | 389 | 0.0026 | 209 | c.-22 others(220): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2138 | chr2 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240623433 | G | GTCGTGAG others(202): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0159 | 1 | 396 | 0.0025 | 209 | c.-21 others(220): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2046 | chr2 | TogoVar | |||||||
GPSM1_chr9_136322539_136364601 | 136355026 | A | AGTGACAC others(202): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0029 | 1 | 396 | 0.0025 | 209 | c.145 others(226): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653216 | C | CTCCCCCC others(202): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0286 | 1 | 207 | 0.0048 | 209 | c.427 others(226): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653216 | C | CTCCCCCC others(202): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0017 | a0002c0017t0003 | a0002c0017t0003g0006 | 1 | 207 | 0.0048 | 209 | c.427 others(226): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653223 | T | TCCTCCCC others(202): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0005 | a0005c0011 | a0005c0011t0012 | a0005c0011t0012g0270 | 1 | 243 | 0.0041 | 209 | c.427 others(226): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
INPP5E_chr9_136423619_136444845 | 136431557 | C | CCCCCCAG others(202): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 379 | 0.0026 | 209 | c.154 others(226): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
IPO11_chr5_62407763_62633582 | 62598425 | T | TTCTTTCT others(202): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 327 | 0.0031 | 209 | c.267 others(228): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAA others(202): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0160 | 1 | 233 | 0.0043 | 209 | c.127 others(228): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(202): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 54 | 0.0185 | 209 | c.25- others(224): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124767659 | A | AGACAGGT others(202): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0068 | 1 | 350 | 0.0029 | 209 | c.201 others(228): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134467 | T | TATAAATA others(202): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18978.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012 | a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0012g0148 |
3 | 257 | 0.0117 | 209 | c.117 others(230): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63445992 | A | ACCCTGTC others(202): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02723.hp1 |
a0001 | a0001c0004a0001c0017 | a0001c0004t0004a0001c0017t0029 | a0001c0004t0004g0096 a0001c0017t0029g0160 |
2 | 32 | 0.0625 | 209 | c.388 others(224): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228748 | C | CCAAACAC others(202): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0147 | a0001c0001t0147g0045 | 1 | 337 | 0.0030 | 209 | c.64+ others(226): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525973 | T | TTCTTCTC others(202): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 254 | 0.0039 | 209 | c.-25 others(228): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62313973 | C | CAGAGACG others(202): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0044 | a0044c0120 | a0044c0120t0006 | a0044c0120t0006g0074 | 1 | 184 | 0.0054 | 209 | c.850 others(226): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 62/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360520 | T | TGGGTGGG others(202): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03017.hp1 HG04115.hp2 |
a0009a0088 | a0009c0015a0009c0043a0088c0034 | a0009c0015t0001a0009c0043t0001a0088c0034t0001 | a0009c0015t0001g0176 a0009c0043t0001g0171 a0088c0034t0001g0175 |
3 | 164 | 0.0183 | 209 | c.450 others(226): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar |