regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SUFU_chr10_102498972_102638535 | 102637474 | A | ATTATATA others(494): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0248 | 1 | 268 | 0.0037 | 501 | c.*73 others(512): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3940 | chr10 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90884833 | G | GTATGCAC others(494): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0132 | 1 | 376 | 0.0027 | 501 | c.158 others(520): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620601 | A | ACCCATCC others(494): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 258 | 0.0039 | 501 | c.113 others(520): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1273064 | G | GCCATCCA others(494): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 392 | 0.0026 | 501 | c.228 others(518): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
THNSL2_chr2_88165346_88191627 | 88181443 | C | CCTCTCTC others(494): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0048 | 1 | 54 | 0.0185 | 501 | c.803 others(518): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TNFRSF6B_chr20_63691652_63703684 | 63693729 | A | ACCACCTC others(494): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 33 | 0.0303 | 501 | c.-30 others(512): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2922 | chr20 | TogoVar | ||||||
TREH_chr11_118652316_118684650 | 118682986 | G | GCCTTGGC others(494): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(136): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0012a0001c0019others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0053a0001c0001t0001g0181a0001c0001t0002g0009others(68): Show | 139 | 392 | 0.3546 | 501 | c.-33 others(512): Show |
TREH | ENSG00000118094.12 | transcript | ENST00000264029.9 | protein_coding | 3337 | chr11 | TogoVar | ||||||
TTLL10_chr1_1168880_1202936 | 1201794 | G | GAGCCCAG others(494): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0290 | 1 | 382 | 0.0026 | 501 | c.*39 others(512): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 3859 | chr1 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23042843 | G | GGGATATC others(494): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 NA19060.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 3 | 351 | 0.0086 | 501 | c.-33 others(512): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3275 | chr15 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467180 | T | TGTGGGGA others(494): Show |
downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 271 | 0.0037 | 501 | c.*79 others(510): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 671 | chrX | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(494): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0180 | 1 | 246 | 0.0041 | 501 | c.53- others(514): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88501156 | A | ATGATGGA others(494): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00738.hp2 others(1): Show |
a0000a0001a0006others(1): Show | a0000c0045a0001c0001a0006c0011others(1): Show | a0000c0045t0007a0001c0001t0004a0006c0011t0007others(1): Show | a0000c0045t0007g0105a0001c0001t0004g0201a0006c0011t0007g0018others(1): Show | 4 | 318 | 0.0126 | 501 | c.268 others(520): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(495): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0230 | 1 | 249 | 0.0040 | 502 | c.49- others(517): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
ACR_chr22_50733204_50750339 | 50748482 | A | ATCCGAGG others(495): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 NA19005.hp2 NA19070.hp1 |
a0001a0002 | a0001c0001a0001c0015a0002c0002 | a0001c0001t0001a0001c0015t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0015t0001g0004a0002c0002t0001g0004 | 3 | 464 | 0.0065 | 502 | c.*32 others(513): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 3144 | chr22 | TogoVar | ||||||
ACR_chr22_50733204_50750339 | 50748482 | A | ATCCGAGG others(495): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 464 | 0.0022 | 502 | c.*32 others(513): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 3144 | chr22 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(495): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0154 | 1 | 228 | 0.0044 | 502 | c.259 others(523): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(495): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0034 | a0034c0045 | a0034c0045t0077 | a0034c0045t0077g0059 | 1 | 262 | 0.0038 | 502 | c.775 others(517): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(495): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0068 | 1 | 301 | 0.0033 | 502 | c.125 others(523): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(495): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0171 | 1 | 301 | 0.0033 | 502 | c.125 others(523): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(495): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 301 | 0.0033 | 502 | c.125 others(523): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194421136 | A | ATATATAT others(495): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0231 | 1 | 304 | 0.0033 | 502 | c.331 others(521): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194421136 | A | ATATATAT others(495): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244a0001c0001t0002g0246 | 2 | 304 | 0.0066 | 502 | c.331 others(521): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 279097 | A | AGGGAGGG others(495): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0111 | 1 | 410 | 0.0024 | 502 | c.465 others(515): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
C2orf16_chr2_27532386_27587722 | 27539791 | G | GTCCTCAC others(495): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0038 | a0038c0042 | a0038c0042t0001 | a0038c0042t0001g0322 | 1 | 326 | 0.0031 | 502 | c.144 others(519): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf16_chr2_27532386_27587722 | 27539791 | G | GTCCTCAC others(495): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0190 | 1 | 326 | 0.0031 | 502 | c.144 others(519): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf16_chr2_27532386_27587722 | 27539791 | G | GTCCTCAC others(495): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0045 | a0003c0045t0001 | a0003c0045t0001g0191 | 1 | 326 | 0.0031 | 502 | c.144 others(519): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf16_chr2_27532386_27587722 | 27539791 | G | GTCCTCAC others(495): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0157 | 1 | 326 | 0.0031 | 502 | c.144 others(519): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544729 | A | ACGTCGCC others(495): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0380 | 1 | 410 | 0.0024 | 502 | c.-22 others(519): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC88A_chr2_55282842_55424856 | 55384523 | A | ATATATAC others(495): Show |
intron_variant | MODIFIER | HG01975.hp1 NA18945.hp2 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0254a0001c0001t0012g0272a0001c0001t0012g0287others(1): Show | 4 | 316 | 0.0127 | 502 | c.273 others(519): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293537 | G | GGCCTACC others(495): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 284 | 0.0035 | 502 | c.411 others(519): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(495): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0158 | 1 | 256 | 0.0039 | 502 | c.-45 others(523): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61784377 | G | GAATGTAA others(495): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0075 | 1 | 106 | 0.0094 | 502 | c.576 others(521): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH8_chr16_61642250_62041438 | 61960243 | G | GTGTGTAT others(495): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0050 | 1 | 168 | 0.0060 | 502 | c.253 others(521): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
CDH8_chr16_61642250_62041438 | 61960243 | G | GTGTGTAT others(495): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0114 | 1 | 168 | 0.0060 | 502 | c.253 others(521): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
CDH8_chr16_61642250_62041438 | 61960243 | G | GTGTGTAT others(495): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0123 | 1 | 168 | 0.0060 | 502 | c.253 others(521): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
CDH8_chr16_61642250_62041438 | 61960243 | G | GTGTGTAT others(495): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0065 | 1 | 168 | 0.0060 | 502 | c.253 others(521): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(495): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0218 | 1 | 402 | 0.0025 | 502 | c.80- others(517): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CNOT6_chr5_180489379_180583358 | 180507818 | A | AAGGTGAA others(495): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0129 | 1 | 334 | 0.0030 | 502 | c.-3+ others(519): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178585594 | T | TGGAGTAA others(495): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0161 | 1 | 236 | 0.0042 | 502 | c.294 others(519): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134729536 | A | ATGCGGGC others(495): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0250 | 1 | 272 | 0.0037 | 502 | c.925 others(517): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COPG2_chr7_130501238_130673748 | 130591233 | T | TCTGCCCA others(495): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01106.hp1 HG01255.hp2 others(30): Show |
a0001a0006a0008others(1): Show | a0001c0002a0006c0007a0008c0013others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(4): Show | a0001c0002t0001g0002a0001c0002t0001g0005a0001c0002t0001g0006others(30): Show | 33 | 326 | 0.1012 | 502 | c.737 others(521): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130591235 | T | TGCCCAGC others(495): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 326 | 0.0031 | 502 | c.737 others(521): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89597938 | C | CCCCCGCC others(495): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0212 | 1 | 348 | 0.0029 | 502 | c.*13 others(513): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 693 | chr16 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 397669 | T | TGTGGGGG others(495): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 367 | 0.0027 | 502 | c.-42 others(513): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4215 | chr16 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397126 | T | TGAGAGGA others(495): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0116 | 1 | 336 | 0.0030 | 502 | c.348 others(519): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 478176 | G | GAAGAAGG others(495): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 88 | 0.0114 | 502 | c.158 others(519): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 894845 | G | GCTGGCAG others(495): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0006 | 1 | 40 | 0.0250 | 502 | c.19- others(519): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 894845 | G | GCTGGCAG others(495): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02818.hp2 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0017a0002c0006t0021 | a0001c0003t0017g0004a0002c0006t0021g0014 | 2 | 40 | 0.0500 | 502 | c.19- others(519): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 894845 | G | GCTGGCAG others(495): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01071.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0011others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(17): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0002g0021others(21): Show | 24 | 40 | 0.6000 | 502 | c.19- others(519): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DOCK3_chr3_50669927_51389198 | 51015808 | C | CTATATAT others(495): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0015 | 1 | 212 | 0.0047 | 502 | c.316 others(521): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |