| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PATL2_chr15_44660732_44716323 | 44701004 | TTCAGCAT others(3286): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02922.hp1 HG03453.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 others(1): Show |
4 | 262 | 0.0153 | -3293 | c.-76 others(17): Show |
PATL2 | ENSG00000229474.8 | transcript | ENST00000682850.1 | protein_coding | 3/17 | chr15 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1637186 | GTCCTGTG others(3285): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG01516.hp1 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0124 |
3 | 223 | 0.0135 | -3292 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| SPNS3_chr17_4428940_4493204 | 4434621 | CGAGTAGC others(3283): Show |
C | intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 362 | 0.0028 | -3290 | c.199 others(16): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| HERPUD2_chr7_35627659_35700135 | 35682072 | TTGTCACC others(3279): Show |
T | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0277 | 1 | 392 | 0.0026 | -3286 | c.147 others(17): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
| RBBP8_chr18_22928328_23031486 | 22939976 | GCTTGATT others(3279): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG03130.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0301 a0001c0004t0004g0302 |
2 | 330 | 0.0061 | -3286 | c.109 others(17): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| NIPSNAP1_chr22_29549808_29586113 | 29576088 | AGCTCACT others(3271): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0253 a0001c0001t0003g0003 a0001c0001t0003g0042 others(2): Show |
13 | 376 | 0.0346 | -3278 | c.98+ others(15): Show |
NIPSNAP1 | ENSG00000184117.12 | transcript | ENST00000216121.12 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 343979 | ACCATCAC others(3271): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(32): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0065 others(32): Show |
35 | 133 | 0.2632 | -3278 | c.-21 others(19): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
| ANKRD30A_chr10_37120598_37237567 | 37204563 | GTCTTCAT others(3260): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 286 | 0.0035 | -3267 | c.286 others(19): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 31/35 | chr10 | TogoVar | |||||||
| ZNF814_chr19_57864381_57894037 | 57879908 | ACGGTGAA others(3258): Show |
A | intron_variant | MODIFIER | NA18984.hp1 NA19072.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 2 | 434 | 0.0046 | -3265 | c.36+ others(15): Show |
ZNF814 | ENSG00000204514.11 | transcript | ENST00000435989.7 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
| IL3RA_chrX_1331785_1387689 | 1368788 | CCTCCAGC others(3257): Show |
C | intron_variant | MODIFIER | HG02451.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0104 |
2 | 115 | 0.0174 | -3264 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| DLG2_chr11_83450173_85632344 | 83753612 | TTTAAAAT others(3255): Show |
T | intron_variant | MODIFIER | HG02559.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0012 a0001c0001t0008g0004 |
2 | 14 | 0.1429 | -3262 | c.182 others(21): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 18/27 | chr11 | TogoVar | |||||||
| CRLF3_chr17_30777684_30829692 | 30814831 | ATCTCTAC others(3251): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0091 | 1 | 324 | 0.0031 | -3258 | c.129 others(17): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| HSF5_chr17_58415167_58493408 | 58450295 | CGCCATTG others(3249): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 332 | 0.0030 | -3256 | c.172 others(19): Show |
HSF5 | ENSG00000176160.11 | transcript | ENST00000323777.8 | protein_coding | 5/5 | chr17 | TogoVar | |||||||
| HDAC9_chr7_18490749_19007416 | 18778030 | GAGTATCT others(3246): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0049 | 1 | 156 | 0.0064 | -3253 | c.221 others(21): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| PTBP3_chr9_112213435_112338619 | 112276462 | TATGGATT others(3241): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0060 | 1 | 342 | 0.0029 | -3248 | c.35- others(14): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 2/13 | chr9 | TogoVar | |||||||
| WFDC8_chr20_45546762_45584284 | 45575422 | AGCATAAA others(3231): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01081.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0081 others(2): Show |
9 | 408 | 0.0221 | -3238 | c.26+ others(14): Show |
WFDC8 | ENSG00000158901.12 | transcript | ENST00000289953.3 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
| USP17L1_chr8_7327387_7338979 | 7335742 | ATAACTGG others(3230): Show |
A | downstream_gene_variant | MODIFIER | HG03540.hp1 | a0006 | a0006c0004 | a0006c0004t0000 | a0006c0004t0000g0000 | 1 | 416 | 0.0024 | -3237 | c.*17 others(11): Show |
USP17L1 | ENSG00000230549.3 | transcript | ENST00000529559.1 | protein_coding | 1764 | chr8 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1400357 | TGTCCTCC others(3228): Show |
T | intron_variant | MODIFIER | HG02976.hp2 HG03486.hp2 NA18906.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0002t0022a0001c0009t0012 | a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0009t0012g0006 |
3 | 40 | 0.0750 | -3235 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DTWD2_chr5_118831074_118993547 | 118915244 | GAAAAAAA others(3228): Show |
G | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0032 | 1 | 242 | 0.0041 | -3235 | c.597 others(19): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
| ZRANB3_chr2_135191969_135536218 | 135340770 | TGCTTGAA others(3224): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(14): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0027 | a0001c0005t0004g0005 a0001c0005t0004g0083 a0001c0005t0004g0084 others(14): Show |
17 | 214 | 0.0794 | -3231 | c.677 others(17): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 6/20 | chr2 | TogoVar | |||||||
| RFX7_chr15_56082280_56248879 | 56236954 | ACAGAACC others(3222): Show |
A | intron_variant | MODIFIER | HG00280.hp2 NA18969.hp2 NA18985.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(2): Show |
5 | 360 | 0.0139 | -3229 | c.161 others(17): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
| TMEM38B_chr9_105689541_105781629 | 105729439 | CATCTCTG others(3221): Show |
C | intron_variant | MODIFIER | NA18747.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0064 a0001c0001t0015g0065 |
2 | 356 | 0.0056 | -3228 | c.542 others(18): Show |
TMEM38B | ENSG00000095209.12 | transcript | ENST00000374692.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| COLEC10_chr8_119062247_119113455 | 119096424 | TCTACTAA others(3220): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 388 | 0.0026 | -3227 | c.292 others(17): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| STX12_chr1_27768219_27829443 | 27780709 | GGGGAGGC others(3220): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 228 | 0.0044 | -3227 | c.118 others(17): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| JPH1_chr8_74229700_74326540 | 74252392 | CGAATGGG others(3216): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0012 | 2 | 330 | 0.0061 | -3223 | c.125 others(19): Show |
JPH1 | ENSG00000104369.5 | transcript | ENST00000342232.5 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
| LSP1_chr11_1848084_1897263 | 1894042 | TGGCTGGA others(3214): Show |
T | downstream_gene_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0035 | 1 | 360 | 0.0028 | -3221 | c.*22 others(11): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1780 | chr11 | TogoVar | |||||||
| PANK2_chr20_3884387_3934887 | 3901315 | TGGAATTA others(3214): Show |
T | intron_variant | MODIFIER | HG02165.hp2 HG03710.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0068 a0001c0001t0016g0069 a0001c0001t0016g0119 |
3 | 422 | 0.0071 | -3221 | c.299 others(17): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
| LSP1_chr11_1848084_1897263 | 1894043 | GGCTGGAG others(3213): Show |
G | downstream_gene_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0071 | 1 | 360 | 0.0028 | -3220 | c.*22 others(11): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1781 | chr11 | TogoVar | |||||||
| ACOT11_chr1_54543228_54615329 | 54604839 | GGCTGACA others(3212): Show |
G | exon_loss_variant | HIGH | HG02622.hp2 | a0013 | a0013c0022 | a0013c0022t0003 | a0013c0022t0003g0029 | 1 | 388 | 0.0026 | -3219 | c.123 others(13): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| FAM151A_chr1_54604181_54628525 | 54604839 | GGCTGACA others(3212): Show |
G | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0134 | 1 | 448 | 0.0022 | -3219 | c.*12 others(11): Show |
FAM151A | ENSG00000162391.12 | transcript | ENST00000302250.7 | protein_coding | 4341 | chr1 | TogoVar | |||||||
| LSP1_chr11_1848084_1897263 | 1894047 | GGAGTGTG others(3209): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(353): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0018others(15): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0008others(25): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0005 others(285): Show |
356 | 360 | 0.9889 | -3216 | c.*22 others(11): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1785 | chr11 | TogoVar | |||||||
| LSP1_chr11_1848084_1897263 | 1894049 | AGTGTGGG others(3207): Show |
A | downstream_gene_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0133 | 1 | 360 | 0.0028 | -3214 | c.*22 others(11): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1787 | chr11 | TogoVar | |||||||
| WWOX_chr16_78094654_79217667 | 79025889 | CCTGGGTT others(3207): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0130 | 1 | 142 | 0.0070 | -3214 | c.105 others(23): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 8/8 | chr16 | TogoVar | |||||||
| BRSK2_chr11_1384934_1467689 | 1429577 | TCAGCAGT others(3203): Show |
T | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0135 | 1 | 360 | 0.0028 | -3210 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| EPPK1_chr8_143852324_143883467 | 143858961 | CGGCGGCG others(3203): Show |
C | conservative_inframe_deletion | MODERATE | HG02027.hp1 | a0251 | a0251c0084 | a0251c0084t0005 | a0251c0084t0005g0277 | 1 | 424 | 0.0024 | -3210 | c.110 others(11): Show |
p.Thr others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 14367/16005 | 11083/15267 | 3695/5088 | chr8 | TogoVar | |||
| ASMT_chrX_1610059_1648081 | 1637215 | ACATGAGG others(3202): Show |
A | intron_variant | MODIFIER | NA18939.hp1 NA18951.hp2 NA18956.hp2 others(3): Show |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0001a0008c0013t0001 | a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 others(3): Show |
6 | 223 | 0.0269 | -3209 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429881 | GTCTGGTC others(3201): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00673.hp1 others(16): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0015others(1): Show | a0001c0003t0001a0001c0003t0026a0001c0004t0001others(3): Show | a0001c0003t0001g0070 a0001c0003t0001g0114 a0001c0003t0001g0134 others(16): Show |
19 | 360 | 0.0528 | -3208 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
| EDA_chrX_69611113_70044472 | 69803194 | TTTTAGCA others(3201): Show |
T | intron_variant | MODIFIER | NA19085.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0146 a0001c0001t0003g0147 |
2 | 226 | 0.0089 | -3208 | c.397 others(21): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ADA_chr20_44614522_44656699 | 44646459 | GAGGAGGG others(3199): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 328 | 0.0031 | -3206 | c.33+ others(15): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 1/11 | chr20 | TogoVar | |||||||
| EPPK1_chr8_143852324_143883467 | 143859329 | TCGGCCTC others(3197): Show |
T | disruptive_inframe_deletion | MODERATE | NA20129.hp1 | a0071 | a0071c0347 | a0071c0347t0001 | a0071c0347t0001g0063 | 1 | 424 | 0.0024 | -3204 | c.107 others(11): Show |
p.Gly others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 10721/15267 | 3574/5088 | chr8 | TogoVar | |||
| NRK_chrX_105817539_105963610 | 105960408 | GTTCACCA others(3195): Show |
G | downstream_gene_variant | MODIFIER | HG02897.hp2 | a0010 | a0010c0015 | a0010c0015t0010 | a0010c0015t0010g0176 | 1 | 219 | 0.0046 | -3202 | c.*48 others(11): Show |
NRK | ENSG00000123572.17 | transcript | ENST00000243300.14 | protein_coding | 1799 | chrX | TogoVar | |||||||
| EPPK1_chr8_143852324_143883467 | 143858128 | GCGGTTCA others(3194): Show |
G | disruptive_inframe_deletion | MODERATE | HG00597.hp1 HG01074.hp2 HG01261.hp2 others(5): Show |
a0034a0067a0095others(4): Show | a0034c0260a0034c0261a0067c0147others(5): Show | a0034c0260t0002a0034c0261t0006a0067c0147t0002others(5): Show | a0034c0260t0002g0128 a0034c0261t0006g0183 a0067c0147t0002g0217 others(5): Show |
8 | 424 | 0.0189 | -3201 | c.119 others(11): Show |
p.Val others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 15200/16005 | 11925/15267 | 3975/5088 | chr8 | TogoVar | |||
| EPPK1_chr8_143852324_143883467 | 143862171 | TGGCGGCG others(3194): Show |
T | conservative_inframe_deletion | MODERATE | HG01257.hp2 HG01258.hp1 NA18947.hp2 others(2): Show |
a0006a0204 | a0006c0003a0204c0222 | a0006c0003t0001a0006c0003t0004a0204c0222t0001 | a0006c0003t0001g0011 a0006c0003t0001g0385 a0006c0003t0004g0230 others(1): Show |
5 | 424 | 0.0118 | -3201 | c.788 others(10): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11157/16005 | 7882/15267 | 2628/5088 | chr8 | TogoVar | |||
| EPPK1_chr8_143852324_143883467 | 143862159 | GGGCGGCG others(3191): Show |
G | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00609.hp1 HG01099.hp1 others(14): Show |
a0039a0042a0046others(10): Show | a0039c0023a0042c0088a0042c0092others(11): Show | a0039c0023t0002a0039c0023t0007a0042c0088t0002others(12): Show | a0039c0023t0002g0278 a0039c0023t0007g0346 a0042c0088t0002g0371 others(13): Show |
17 | 424 | 0.0401 | -3198 | c.789 others(10): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11169/16005 | 7897/15267 | 2633/5088 | chr8 | TogoVar | |||
| PRRC1_chr5_127512640_127560085 | 127528976 | CATTGTAC others(3191): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG02293.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0120 | 1 | 340 | 0.0029 | -3198 | c.655 others(17): Show |
PRRC1 | ENSG00000164244.21 | transcript | ENST00000296666.13 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
| EPPK1_chr8_143852324_143883467 | 143862160 | GGCGGCGG others(3190): Show |
G | frameshift_variant | HIGH | HG03654.hp1 | a0093 | a0093c0176 | a0093c0176t0007 | a0093c0176t0007g0106 | 1 | 424 | 0.0024 | -3197 | c.789 others(10): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11168/16005 | 7897/15267 | 2633/5088 | chr8 | TogoVar | |||
| GLT1D1_chr12_128848478_128989968 | 128901625 | CGGGGTTT others(3190): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02717.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0004others(3): Show | a0001c0001t0001g0072 a0001c0002t0001g0065 a0001c0002t0001g0155 others(4): Show |
7 | 320 | 0.0219 | -3197 | c.375 others(17): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146074349 | TCAGTTCA others(3189): Show |
T | exon_loss_variant | HIGH | HG00597.hp2 HG00639.hp2 HG01099.hp2 others(16): Show |
a0033a0036a0144others(14): Show | a0033c0166a0033c0168a0036c0026others(15): Show | a0033c0166t0003a0033c0168t0003a0036c0026t0003others(15): Show | a0033c0166t0003g0194 a0033c0168t0003g0212 a0036c0026t0003g0182 others(16): Show |
19 | 283 | 0.0671 | -3196 | c.949 others(9): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 79/90 | 10034/13030 | chr1 | TogoVar | ||||||
| EPPK1_chr8_143852324_143883467 | 143861360 | CGGTAGGC others(3188): Show |
C | disruptive_inframe_deletion | MODERATE | HG00140.hp2 NA19030.hp2 |
a0055a0300 | a0055c0341a0300c0073 | a0055c0341t0016a0300c0073t0001 | a0055c0341t0016g0255 a0300c0073t0001g0160 |
2 | 424 | 0.0047 | -3195 | c.869 others(10): Show |
p.Gln others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11968/16005 | 8699/15267 | 2900/5088 | chr8 | TogoVar | |||
| NBPF10_chr1_146059711_146149804 | 146074347 | AGTCAGTT others(3187): Show |
A | exon_loss_variant | HIGH | HG02486.hp1 HG02683.hp2 HG03225.hp1 others(2): Show |
a0087a0089a0090others(2): Show | a0087c0098a0089c0099a0090c0097others(2): Show | a0087c0098t0006a0089c0099t0006a0090c0097t0006others(2): Show | a0087c0098t0006g0144 a0089c0099t0006g0142 a0090c0097t0006g0141 others(2): Show |
5 | 283 | 0.0177 | -3194 | c.949 others(10): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 79/90 | 10036/13030 | chr1 | TogoVar |