| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HSF5_chr17_58415167_58493408 | 58450295 | CGCCATTG others(3249): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 330 | 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 | 154 | 0.0065 | -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 | a0001c0001t0004g0059 | 1 | 340 | 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 | a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0078 others(2): Show |
9 | 406 | 0.0222 | -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 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0000 | 1 | 414 | 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 | a0001c0004t0001g0052 | 1 | 240 | 0.0042 | -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 | 212 | 0.0802 | -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 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(2): Show |
5 | 358 | 0.0140 | -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 | a0001c0001t0015g0067 a0001c0001t0015g0068 |
2 | 354 | 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 | a0001c0001t0002g0163 | 1 | 386 | 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 | a0001c0001t0002g0072 | 1 | 226 | 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 | a0001c0001t0017g0014 | 2 | 328 | 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 | 358 | 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 | a0001c0001t0016g0077 a0001c0001t0016g0078 a0001c0001t0016g0126 |
3 | 420 | 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 | a0002c0001t0001g0076 | 1 | 358 | 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 | a0010 | a0010c0018 | a0010c0018t0003 | a0010c0018t0003g0030 | 1 | 386 | 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 | a0001c0005t0001g0135 | 1 | 446 | 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(352): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0018others(15): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0008others(25): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0013 others(290): Show |
355 | 358 | 0.9916 | -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 | a0002c0005t0001g0140 | 1 | 358 | 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 | a0001c0003t0001g0138 | 1 | 344 | 0.0029 | -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 | a0009 | a0009c0083 | a0009c0083t0005 | a0009c0083t0005g0278 | 1 | 422 | 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 |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0007c0012t0001 | a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 others(3): Show |
6 | 201 | 0.0299 | -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 | a0001c0003a0001c0004a0001c0014others(1): Show | a0001c0003t0001a0001c0003t0026a0001c0004t0001others(3): Show | a0001c0003t0001g0073 a0001c0003t0001g0113 a0001c0003t0001g0137 others(15): Show |
19 | 357 | 0.0532 | -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 | a0001c0001t0001g0147 a0001c0001t0003g0148 |
2 | 226 | 0.0088 | -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 | a0001c0002t0001g0100 | 1 | 326 | 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 | a0165 | a0165c0237 | a0165c0237t0001 | a0165c0237t0001g0099 | 1 | 406 | 0.0025 | -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 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0179 | 1 | 217 | 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 |
a0018a0035a0055others(2): Show | a0018c0017a0035c0180a0035c0181others(3): Show | a0018c0017t0002a0035c0180t0002a0035c0181t0006others(3): Show | a0018c0017t0002g0041 a0018c0017t0002g0317 a0035c0180t0002g0171 others(4): Show |
8 | 418 | 0.0191 | -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 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0001g0340 others(1): Show |
5 | 266 | 0.0188 | -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 |
a0006a0026a0034others(5): Show | a0006c0009a0006c0085a0006c0087others(9): Show | a0006c0009t0002a0006c0085t0002a0006c0087t0002others(10): Show | a0006c0009t0002g0040 a0006c0009t0002g0105 a0006c0009t0002g0280 others(12): Show |
17 | 406 | 0.0419 | -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 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0114 | 1 | 338 | 0.0030 | -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 | a0123 | a0123c0139 | a0123c0139t0007 | a0123c0139t0007g0151 | 1 | 422 | 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 | 318 | 0.0220 | -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 |
a0001a0027a0071 | a0001c0008a0001c0016a0001c0034others(6): Show | a0001c0008t0003a0001c0016t0003a0001c0034t0003others(6): Show | a0001c0008t0003g0170 a0001c0008t0003g0177 a0001c0008t0003g0191 others(16): Show |
19 | 256 | 0.0742 | -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 |
a0050a0154 | a0050c0075a0154c0231 | a0050c0075t0001a0154c0231t0016 | a0050c0075t0001g0197 a0154c0231t0016g0142 |
2 | 412 | 0.0049 | -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 |
a0064a0070a0085others(2): Show | a0064c0069a0070c0066a0085c0070others(2): Show | a0064c0069t0006a0070c0066t0006a0085c0070t0006others(2): Show | a0064c0069t0006g0141 a0070c0066t0006g0139 a0085c0070t0006g0143 others(2): Show |
5 | 282 | 0.0177 | -3194 | c.949 others(10): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 79/90 | 10036/13030 | chr1 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148571234 | GACACACA others(3185): Show |
G | exon_loss_variant | HIGH | NA18973.hp2 | a0103 | a0103c0134 | a0103c0134t0001 | a0103c0134t0001g0192 | 1 | 111 | 0.0090 | -3192 | c.230 others(17): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 22/71 | chr1 | TogoVar | |||||||
| NAV1_chr1_201534127_201831969 | 201586841 | AACACAAA others(3183): Show |
A | splice_acceptor_variant others(5): Show |
HIGH | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0021 | 1 | 208 | 0.0048 | -3190 | c.-14 others(18): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148569436 | GTGGGAAA others(3182): Show |
G | exon_loss_variant | HIGH | HG02451.hp1 | a0067 | a0067c0048 | a0067c0048t0023 | a0067c0048t0023g0005 | 1 | 220 | 0.0045 | -3189 | c.258 others(15): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 24/71 | chr1 | TogoVar | |||||||
| ZNF804B_chr7_88754700_89343528 | 89274364 | TGCGATCT others(3182): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02970.hp2 HG03471.hp1 |
a0004 | a0004c0008 | a0004c0008t0006 | a0004c0008t0006g0114 a0004c0008t0006g0117 a0004c0008t0006g0118 |
3 | 166 | 0.0181 | -3189 | c.250 others(19): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148569398 | CCTTTCTC others(3181): Show |
C | exon_loss_variant | HIGH | HG02523.hp2 | a0071 | a0071c0147 | a0071c0147t0009 | a0071c0147t0009g0217 | 1 | 198 | 0.0051 | -3188 | c.261 others(9): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 24/71 | 3313/10779 | chr1 | TogoVar | ||||||
| MYOZ3_chr5_150656251_150684368 | 150679784 | CCAGCCTG others(3179): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0199 | 1 | 392 | 0.0026 | -3186 | c.*29 others(11): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 417 | chr5 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146069646 | TGAATAAC others(3179): Show |
C | exon_loss_variant | HIGH | HG00140.hp2 HG04204.hp2 |
a0001a0031 | a0001c0005a0031c0123 | a0001c0005t0003a0031c0123t0003 | a0001c0005t0003g0172 a0031c0123t0003g0176 |
2 | 282 | 0.0071 | -3186 | c.102 others(11): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 85/90 | 10742/13030 | chr1 | TogoVar | ||||||
| P3H2_chr3_189951728_190125897 | 190019555 | GCTCATTA others(3173): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(80): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0002a0004c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0173 others(80): Show |
83 | 302 | 0.2748 | -3180 | c.481 others(19): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
| DMBT1_chr10_122555754_122648736 | 122576410 | GGTTTGGC others(3172): Show |
G | exon_loss_variant | HIGH | HG03831.hp1 | a0041 | a0041c0069 | a0041c0069t0003 | a0041c0069t0003g0243 | 1 | 280 | 0.0036 | -3179 | c.323 others(7): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 8/56 | 340/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1013791 | CGCCTCCA others(3170): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG03710.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0003 | a0001c0003t0001g0025 a0002c0001t0003g0021 |
2 | 36 | 0.0556 | -3177 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| GPR137B_chr1_236137539_236213907 | 236199573 | TTGTTATG others(3170): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0118 a0001c0001t0002g0116 |
2 | 384 | 0.0052 | -3177 | c.967 others(17): Show |
GPR137B | ENSG00000077585.14 | transcript | ENST00000366592.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF19_chr1_149470045_149561361 | 149548199 | TCACTGGA others(3170): Show |
T | exon_loss_variant | HIGH | NA18984.hp2 | a0045 | a0045c0042 | a0045c0042t0001 | a0045c0042t0001g0113 | 1 | 274 | 0.0036 | -3177 | c.103 others(11): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 87/94 | 11130/13941 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |