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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRTC3_chr15_90524923_90650345 | 90647419 | T | TCACACAC others(88): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG01167.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0023a0001c0001t0024others(3): Show | a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0151 others(32): Show |
35 | 276 | 0.1268 | 95 | c.*52 others(106): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2075 | chr15 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 107026134 | C | CATATATA others(88): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 others(1): Show |
4 | 320 | 0.0125 | 95 | c.159 others(112): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 107026147 | T | TATATAAC others(88): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0169 a0001c0001t0008g0170 |
2 | 320 | 0.0063 | 95 | c.159 others(112): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20455445 | T | TTGGAAAA others(88): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0248 | 1 | 250 | 0.0040 | 95 | c.277 others(114): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20497481 | C | CACACACA others(88): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0083 a0001c0002t0002g0073 |
2 | 250 | 0.0080 | 95 | c.150 others(112): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20497481 | C | CACACACA others(88): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01243.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0120 others(34): Show |
37 | 250 | 0.1480 | 95 | c.150 others(112): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20497496 | A | ACACACCA others(88): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 others(75): Show |
78 | 250 | 0.3120 | 95 | c.150 others(112): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314261 | C | CACACAGC others(88): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 159 | 0.0063 | 95 | c.*47 others(106): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4327 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314319 | A | ACACTGCA others(88): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 HG02622.hp1 |
a0005a0007 | a0005c0008a0007c0017 | a0005c0008t0001a0007c0017t0001 | a0005c0008t0001g0138 a0007c0017t0001g0143 |
2 | 159 | 0.0126 | 95 | c.*48 others(106): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4385 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314585 | C | CCACTGCA others(88): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0106 | 1 | 159 | 0.0063 | 95 | c.*51 others(106): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4651 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314691 | G | GCCCAACC others(88): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 159 | 0.0063 | 95 | c.*52 others(106): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4757 | chrX | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34102674 | G | GCCATATC others(88): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01978.hp2 HG02055.hp2 others(2): Show |
a0001a0003a0005others(2): Show | a0001c0047a0003c0003a0005c0012others(2): Show | a0001c0047t0001a0003c0003t0005a0005c0012t0001others(2): Show | a0001c0047t0001g0031 a0003c0003t0005g0029 a0005c0012t0001g0003 others(2): Show |
5 | 66 | 0.0758 | 95 | c.188 others(114): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34102674 | G | GCCATATC others(88): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03471.hp1 |
a0001a0006 | a0001c0045a0006c0013 | a0001c0045t0013a0006c0013t0003 | a0001c0045t0013g0027 a0006c0013t0003g0058 |
2 | 66 | 0.0303 | 95 | c.188 others(114): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | |||||||
CST8_chr20_23486117_23501010 | 23490057 | A | ATATATAT others(88): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 440 | 0.0046 | 95 | c.-14 others(106): Show |
CST8 | ENSG00000125815.9 | transcript | ENST00000246012.2 | protein_coding | 1059 | chr20 | TogoVar | |||||||
CT45A1_chrX_135708639_135728228 | 135723962 | C | CATATATA others(88): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 57 | 0.0175 | 95 | c.*92 others(104): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 735 | chrX | TogoVar | |||||||
CTSD_chr11_1747755_1768927 | 1754533 | A | AGGGATGG others(88): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0162 | 1 | 386 | 0.0026 | 95 | c.827 others(110): Show |
CTSD | ENSG00000117984.15 | transcript | ENST00000236671.7 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150744134 | A | ATAGATTA others(88): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02027.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0155 a0001c0001t0001g0202 |
3 | 344 | 0.0087 | 95 | c.896 others(112): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150744134 | A | ATAGATTA others(88): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0009 a0001c0001t0001g0123 a0001c0001t0001g0124 others(4): Show |
9 | 344 | 0.0262 | 95 | c.896 others(112): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150744134 | A | ATAGATTA others(88): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 344 | 0.0029 | 95 | c.896 others(112): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150744134 | A | ATATATTA others(88): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 344 | 0.0029 | 95 | c.896 others(112): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150744134 | A | ATATATTA others(88): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00741.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 others(5): Show |
8 | 344 | 0.0233 | 95 | c.896 others(112): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150744134 | A | ATATATTA others(88): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02258.hp2 HG02698.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0177 a0001c0001t0001g0178 a0002c0002t0002g0006 others(1): Show |
6 | 344 | 0.0174 | 95 | c.896 others(112): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CUX2_chr12_111029165_111355554 | 111257470 | T | TTCTTCCT others(88): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 100 | 0.0100 | 95 | c.223 others(112): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CYP1A1_chr15_74714542_74730528 | 74714561 | G | GTATATAT others(88): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 434 | 0.0023 | 95 | c.*59 others(106): Show |
CYP1A1 | ENSG00000140465.15 | transcript | ENST00000379727.8 | protein_coding | 4980 | chr15 | TogoVar | |||||||
CYP1A1_chr15_74714542_74730528 | 74714561 | G | GTATATAT others(88): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02818.hp2 |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0003a0009c0009t0003 | a0001c0001t0003g0010 a0009c0009t0003g0033 |
2 | 434 | 0.0046 | 95 | c.*59 others(106): Show |
CYP1A1 | ENSG00000140465.15 | transcript | ENST00000379727.8 | protein_coding | 4980 | chr15 | TogoVar | |||||||
CYSLTR1_chrX_78266468_78332611 | 78269442 | T | TTATATAT others(88): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 | a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0123 | 1 | 240 | 0.0042 | 95 | c.*32 others(106): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 2025 | chrX | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241766058 | G | GGGAGATG others(88): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0004 | a0004c0005 | a0004c0005t0010 | a0004c0005t0010g0040 | 1 | 412 | 0.0024 | 95 | c.130 others(114): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24359355 | A | ATATATAT others(88): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG03130.hp1 others(1): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0003 | a0002c0002t0001a0002c0002t0004a0002c0004t0004others(1): Show | a0002c0002t0001g0093 a0002c0002t0004g0077 a0002c0004t0004g0092 others(1): Show |
4 | 216 | 0.0185 | 95 | c.-16 others(106): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 1297 | chr6 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35826539 | A | AAGGAAGG others(88): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 230 | 0.0044 | 95 | c.140 others(114): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 10/16 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35826539 | A | AAGGAAGG others(88): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 1 | 230 | 0.0044 | 95 | c.140 others(114): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 10/16 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35826539 | A | AAGGAAGG others(88): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0008 | a0001c0008t0010 | a0001c0008t0010g0023 | 1 | 230 | 0.0044 | 95 | c.140 others(114): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 10/16 | chr13 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 690256 | G | GAGGGGAG others(88): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02109.hp2 HG02717.hp1 others(3): Show |
a0001a0005 | a0001c0002a0005c0010 | a0001c0002t0001a0005c0010t0001 | a0001c0002t0001g0204 a0001c0002t0001g0237 a0001c0002t0001g0238 others(3): Show |
6 | 345 | 0.0174 | 95 | c.387 others(112): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 690266 | C | CAGGAGAG others(88): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0251 a0001c0002t0001g0252 |
2 | 345 | 0.0058 | 95 | c.387 others(112): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 690266 | C | CAGGAGAG others(88): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0031 | 1 | 345 | 0.0029 | 95 | c.387 others(112): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 690326 | C | CAGGGCAG others(88): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18963.hp1 NA18964.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 others(5): Show |
8 | 345 | 0.0232 | 95 | c.387 others(112): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 690331 | G | GAGGGGAG others(88): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0230 | 1 | 345 | 0.0029 | 95 | c.387 others(112): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | |||||||
DENND6B_chr22_50304030_50332012 | 50316936 | C | CGGGGGGG others(88): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(34): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0009a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0042 a0001c0001t0001g0120 a0001c0001t0002g0001 others(32): Show |
37 | 326 | 0.1135 | 95 | c.453 others(110): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 5/19 | chr22 | TogoVar | |||||||
DENND6B_chr22_50304030_50332012 | 50316936 | C | CGGGGGGG others(88): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 326 | 0.0031 | 95 | c.453 others(110): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 5/19 | chr22 | TogoVar | |||||||
DENND6B_chr22_50304030_50332012 | 50316936 | C | CGGGGGGG others(88): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0245 | 1 | 326 | 0.0031 | 95 | c.453 others(110): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 5/19 | chr22 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233397016 | T | TGGGGGGG others(88): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0258 | 1 | 336 | 0.0030 | 95 | c.348 others(112): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397164 | G | GGGCCAGA others(88): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 336 | 0.0030 | 95 | c.348 others(112): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 414733 | G | GTGTGTAT others(88): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0077 | 1 | 88 | 0.0114 | 95 | c.860 others(110): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 7/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478321 | A | AGGGAGGG others(88): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 88 | 0.0114 | 95 | c.158 others(112): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478321 | A | AGGGAGGG others(88): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 | 1 | 88 | 0.0114 | 95 | c.158 others(112): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 608596 | C | CCCCCCCC others(88): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0081 | 1 | 88 | 0.0114 | 95 | c.85+ others(112): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1471180 | C | CCATCCTT others(88): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 40 | 0.0250 | 95 | c.107 others(114): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1471343 | C | CGACCCCT others(88): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 40 | 0.0250 | 95 | c.107 others(114): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55153733 | A | AAAAAAAA others(88): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0002 | 1 | 398 | 0.0025 | 95 | c.*53 others(106): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4931 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55153734 | A | AAAAAAAA others(88): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0015 | 1 | 398 | 0.0025 | 95 | c.*53 others(106): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4930 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55153755 | A | AAAAAAAA others(88): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 2 | 398 | 0.0050 | 95 | c.*53 others(106): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4909 | chr19 | TogoVar |