Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BTRC_chr10_101349165_101562313	101522409	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0241 a0001c0001t0005g0241	1	6	0.1667	25	c.556 others(40): Show c.556+543_556+567dupTTTTTTTTTTTTTTTTTTTTTTTTT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BVES_chr6_105091822_105142157	105109763	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02074.hp2 NA21309.hp1 HG00735.hp1 HG02074.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0069 a0001c0001t0076 a0001c0001t0001 a0001c0001t0069 a0001c0001t0076	a0001c0001t0001g0171 a0001c0001t0069g0159 a0001c0001t0076g0163 a0001c0001t0001g0171 a0001c0001t0069g0159 a0001c0001t0076g0163	3	48	0.0625	25	c.958 others(42): Show c.958+5922_958+5923insTTTTTTTTTTTTTTTTTTTTTTTTT	BVES	ENSG00000112276.14	transcript	ENST00000314641.10	protein_coding	7/7			chr6	TogoVar
BZW1_chr2_200806910_200832338	200826407	A A	AGATAGAT others(18): Show AGATAGATAGATAGATAGATAGATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0002 a0001c0001t0080g0002	1	123	0.0081	25	c.42 others(36): Show c.4229_*4230insGATAGATAGATAGATAGATAGATAT	BZW1	ENSG00000082153.18	transcript	ENST00000409600.6	protein_coding	12/12	4230		chr2	TogoVar
BZW2_chr7_16641181_16711517	16709907	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG03486.hp1 HG02559.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0300 a0001c0001t0002g0296 a0001c0001t0002g0300	2	271	0.0074	25	c.38 others(36): Show c.3819_*3820insAAAAAAAAAAAAAAAAAAAAAAAAA	BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding		3391		chr7	TogoVar
C10orf67_chr10_23197696_23349797	23297230	C C	CCCTTTCC others(18): Show CCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19070.hp2 HG02723.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0321 a0001c0002t0001g0008 a0001c0001t0003g0321 a0001c0002t0001g0008	2	65	0.0308	25	c.703 others(42): Show c.703-5976_703-5952dupAAAGGAAAGGAAAGGAAAGGAAAGG	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	5/15			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126443559	G G	GATTCACA others(18): Show GATTCACAGATGAATTCTAGAGCAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02559.hp2 HG03516.hp1 others(1): Show HG01192.hp1 HG02559.hp2 HG03516.hp1 NA19240.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0007c0010 a0009c0023 a0001c0001 a0007c0010 a0009c0023	a0001c0001t0001 a0007c0010t0001 a0009c0023t0001 a0001c0001t0001 a0007c0010t0001 a0009c0023t0001	a0001c0001t0001g0032 a0007c0010t0001g0019 a0007c0010t0001g0164 others(1): Show a0001c0001t0001g0032 a0007c0010t0001g0019 a0007c0010t0001g0164 a0009c0023t0001g0117	4	216	0.0185	25	c.218 others(46): Show c.2189-13734_2189-13710dupTCTGCTCTAGAATTCATCTGTGAA T	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	7/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126490058	T T	TATAATAT others(18): Show TATAATATATAATATATAATATAATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(34): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00597.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01516.hp2 HG01981.hp1 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02683.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03490.hp1 NA18941.hp2 NA18950.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18975.hp2 NA19002.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19086.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0012 a0016	a0001c0001 a0001c0009 a0002c0003 others(6): Show a0001c0001 a0001c0009 a0002c0003 a0002c0004 a0003c0002 a0003c0017 a0006c0007 a0012c0019 a0016c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0009t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0003c0002t0001 a0003c0002t0002 a0003c0017t0001 a0006c0007t0001 a0006c0007t0003 a0006c0007t0005 a0012c0019t0012 a0016c0029t0001	a0001c0001t0001g0011 a0001c0001t0001g0140 a0001c0001t0001g0182 others(34): Show a0001c0001t0001g0011 a0001c0001t0001g0140 a0001c0001t0001g0182 a0001c0001t0002g0122 a0001c0001t0002g0136 a0001c0001t0003g0199 a0001c0001t0004g0176 a0001c0001t0004g0191 a0001c0009t0001g0078 a0002c0003t0001g0100 a0002c0003t0001g0139 a0002c0003t0001g0177 a0002c0003t0001g0186 a0002c0003t0001g0200 a0002c0003t0002g0056 a0002c0003t0003g0049 a0002c0003t0004g0050 a0002c0003t0004g0081 a0002c0003t0004g0115 a0002c0004t0001g0017 a0002c0004t0001g0030 a0002c0004t0001g0063 a0002c0004t0001g0216 a0002c0004t0002g0095 a0002c0004t0004g0127 a0002c0004t0004g0217 a0003c0002t0001g0173 a0003c0002t0002g0187 a0003c0017t0001g0188 a0006c0007t0001g0151 a0006c0007t0003g0114 a0006c0007t0003g0119 a0006c0007t0003g0146 a0006c0007t0003g0159 a0006c0007t0005g0147 a0012c0019t0012g0125 a0016c0029t0001g0218	37	216	0.1713	25	c.153 others(46): Show c.1534+13874_1534+13898dupTATTATATTATATATTATATATTA T	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	4/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126532842	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01099.hp2 others(9): Show HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01168.hp1 HG02559.hp2 HG03195.hp1 HG03490.hp2 HG03516.hp1 HG06807.hp1 NA19002.hp1 NA19007.hp2 NA19043.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0008	a0001c0001 a0002c0004 a0003c0002 others(3): Show a0001c0001 a0002c0004 a0003c0002 a0006c0007 a0007c0010 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0002c0004t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0003 a0002c0004t0005 a0003c0002t0001 a0003c0002t0004 a0006c0007t0001 a0007c0010t0001 a0008c0015t0001	a0001c0001t0001g0170 a0001c0001t0002g0205 a0002c0004t0003g0126 others(9): Show a0001c0001t0001g0170 a0001c0001t0002g0205 a0002c0004t0003g0126 a0002c0004t0005g0148 a0003c0002t0001g0054 a0003c0002t0001g0107 a0003c0002t0001g0108 a0003c0002t0004g0062 a0006c0007t0001g0151 a0007c0010t0001g0019 a0007c0010t0001g0164 a0008c0015t0001g0158	12	39	0.3077	25	c.314 others(44): Show c.314-18904_314-18903insTTTTTTTTTTTTTTTTTTTTTTTTT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565249	A A	ATATTACA others(18): Show ATATTACATATTATGTAATATAATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01192.hp2 others(2): Show HG00735.hp2 HG01074.hp1 HG01192.hp2 HG01243.hp1 HG02965.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0013	a0001c0001 a0001c0009 a0002c0004 others(2): Show a0001c0001 a0001c0009 a0002c0004 a0005c0021 a0013c0026	a0001c0001t0002 a0001c0009t0004 a0002c0004t0001 others(2): Show a0001c0001t0002 a0001c0009t0004 a0002c0004t0001 a0005c0021t0001 a0013c0026t0001	a0001c0001t0002g0109 a0001c0009t0004g0206 a0002c0004t0001g0055 others(2): Show a0001c0001t0002g0109 a0001c0009t0004g0206 a0002c0004t0001g0055 a0005c0021t0001g0171 a0013c0026t0001g0181	5	212	0.0236	25	c.314 others(44): Show c.314-51311_314-51310insATATTATATTACATAATATGTAATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C11orf65_chr11_108377755_108472529	108408676	A A	AATAACAT others(18): Show AATAACATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	324	0.0031	25	c.175 others(42): Show c.175-1528_175-1527insGTTATGTTATGTTATGTTATGTTAT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf65_chr11_108377755_108472529	108428096	T T	TGGGGGGG others(18): Show TGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	328	0.0030	25	c.174 others(42): Show c.174+3649_174+3650insCCCCCCCCCCCCCCCCCCCCCCCCC	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTCCTT others(18): Show CTTTCCTTTCCTTTCCTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0000 a0001c0001t0010g0000	1	214	0.0047	25	c.57 others(36): Show c.5731_*5732insAGAAAAGAAAGGAAAGGAAAGGAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTCTTT others(18): Show CTTTCTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01952.hp1 others(4): Show HG01069.hp1 HG01071.hp1 HG01952.hp1 HG02056.hp1 HG02451.hp1 HG03239.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	7	220	0.0318	25	c.57 others(36): Show c.5707_*5731dupAGAAAAGAAAAGAAAAGAAAAGAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(18): Show CTTTTCTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02293.hp2 NA18944.hp1 others(5): Show HG01928.hp2 HG02293.hp2 NA18944.hp1 NA18964.hp1 NA18973.hp1 NA18982.hp1 NA18990.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0002g0000 a0001c0001t0003g0000	8	221	0.0362	25	c.57 others(36): Show c.5731_*5732insAGAAAAGAAAAGAAAAGAAAGAAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(18): Show CTTTTCTTTTCTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01433.hp1 HG01978.hp2 others(2): Show HG01081.hp1 HG01433.hp1 HG01978.hp2 NA18986.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0002g0000 a0001c0001t0003g0000	5	218	0.0229	25	c.57 others(36): Show c.5731_*5732insAGAAAAGAAAAGAAAGAAAAGAAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(18): Show CTTTTCTTTTCTTTTCTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03540.hp2 others(1): Show HG03491.hp2 HG03492.hp2 HG03540.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	4	217	0.0184	25	c.57 others(36): Show c.5731_*5732insAGAAAAGAAAGAAAAGAAAAGAAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(18): Show CTTTTCTTTTCTTTTCTTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	214	0.0047	25	c.57 others(36): Show c.5731_*5732insAGAAAGAAAAGAAAAGAAAAGAAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf80_chr11_66739769_66848516	66817155	G G	GAAATAAA others(18): Show GAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 NA18906.hp1 others(1): Show HG01243.hp1 HG02647.hp1 NA18906.hp1 NA21309.hp2	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0003 a0004c0005 a0007c0006 a0002c0003 a0004c0005 a0007c0006	a0002c0003t0005 a0004c0005t0005 a0007c0006t0009 a0002c0003t0005 a0004c0005t0005 a0007c0006t0009	a0002c0003t0005g0120 a0004c0005t0005g0119 a0004c0005t0005g0236 others(1): Show a0002c0003t0005g0120 a0004c0005t0005g0119 a0004c0005t0005g0236 a0007c0006t0009g0247	4	240	0.0167	25	c.841 others(40): Show c.841+961_841+985dupAAAATAAAATAAAATAAAATAAAAT	C11orf80	ENSG00000173715.19	transcript	ENST00000540737.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
C12orf40_chr12_39621183_39726914	39653524	C C	CTTCTTCT others(18): Show CTTCTTCTTTTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	356	0.0028	25	c.686 others(42): Show c.686+3178_686+3179insTTTCTTCTTCTTCTTCTTTCTTCTT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39653527	C C	CTTCTTCT others(18): Show CTTCTTCTTTTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01243.hp2 HG01433.hp1 HG00099.hp1 HG01243.hp2 HG01433.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0054 a0002c0002t0001g0105 a0002c0002t0001g0137 a0001c0001t0004g0054 a0002c0002t0001g0105 a0002c0002t0001g0137	3	350	0.0086	25	c.686 others(42): Show c.686+3181_686+3182insTTTCTTCTTCTTCTTCTTTCTTCTT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf42_chr12_103296955_103500968	103462096	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	38	0.0263	25	c.78+ others(42): Show c.78+16228_78+16252dupAAAAAAAAAAAAAAAAAAAAAAAAA	C12orf42	ENSG00000179088.16	transcript	ENST00000548883.6	protein_coding	2/5			chr12	TogoVar
C12orf43_chr12_120995486_121021487	121012209	G G	GAAACAGC others(18): Show GAAACAGCACACCCACACTCCCAAGA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0098 a0001c0001t0020g0098	1	416	0.0024	25	c.146 others(42): Show c.146-1064_146-1063insTCTTGGGAGTGTGGGTGTGCTGTTT	C12orf43	ENSG00000157895.11	transcript	ENST00000288757.7	protein_coding	1/5			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64276993	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03195.hp2 HG02486.hp1 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0005 a0002c0002t0001 a0002c0005t0005	a0002c0002t0001g0172 a0002c0005t0005g0264 a0002c0002t0001g0172 a0002c0005t0005g0264	2	6	0.3333	25	c.143 others(42): Show c.1434+686_1434+687insTTTTTTTTTTTTTTTTTTTTTTTTT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	9/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64308940	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19054.hp2 HG02074.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0223 a0002c0002t0001g0167 a0001c0003t0001g0223 a0002c0002t0001g0167	2	70	0.0286	25	c.968 others(42): Show c.968+3738_968+3739insTCTTTCTTTCTTTCTTTCTTTCTTT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	5/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64313274	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01106.hp1 others(32): Show HG00099.hp2 HG01099.hp2 HG01106.hp1 HG01175.hp1 HG01515.hp1 HG01517.hp2 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02280.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02717.hp2 HG02922.hp1 HG03139.hp2 HG03453.hp2 HG03490.hp2 HG03704.hp1 HG03834.hp1 HG06807.hp2 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18990.hp2 NA19004.hp1 NA19004.hp2 NA19055.hp1 NA19074.hp1 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0002c0002t0003 a0003c0004t0001 others(2): Show a0002c0002t0001 a0002c0002t0003 a0003c0004t0001 a0003c0004t0003 a0003c0004t0011	a0002c0002t0001g0007 a0002c0002t0001g0029 a0002c0002t0001g0066 others(32): Show a0002c0002t0001g0007 a0002c0002t0001g0029 a0002c0002t0001g0066 a0002c0002t0001g0150 a0002c0002t0001g0162 a0002c0002t0001g0178 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0188 a0002c0002t0001g0202 a0002c0002t0001g0221 a0002c0002t0003g0020 a0002c0002t0003g0061 a0002c0002t0003g0064 a0002c0002t0003g0116 a0002c0002t0003g0207 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0232 a0003c0004t0001g0080 a0003c0004t0001g0250 a0003c0004t0003g0051 a0003c0004t0003g0096 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0101 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0113 a0003c0004t0003g0154 a0003c0004t0003g0256 a0003c0004t0003g0261 a0003c0004t0003g0279 a0003c0004t0003g0283 a0003c0004t0011g0004	35	161	0.2174	25	c.895 others(40): Show c.895-523_895-522insCTTTCTTTCTTTCTTTCTTTCTTTT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	4/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64313274	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0258 a0002c0002t0001g0258	1	127	0.0079	25	c.895 others(40): Show c.895-523_895-522insCTTTCTTTCTTTCTTTCTTTCTTTC	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	4/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64365851	T T	TATTATAT others(18): Show TATTATATATAGTGTATATATTATAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0050 a0001c0003t0001g0050	1	310	0.0032	25	c.253 others(44): Show c.253-12820_253-12796dupGTATAATATATACACTATATATAAT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64366204	G G	GTATAATA others(18): Show GTATAATATACAGTTTATATATTATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01433.hp1 HG01257.hp2 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0147 a0001c0003t0001g0164 a0001c0003t0001g0147 a0001c0003t0001g0164	2	307	0.0065	25	c.253 others(44): Show c.253-13173_253-13149dupTATAATATATAAACTGTATATTATA	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64367165	C C	CATACACT others(18): Show CATACACTTTATATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	211	0.0047	25	c.253 others(44): Show c.253-14110_253-14109insATTATATATAATATATAAAGTGTAT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64367180	T T	TTATATAA others(18): Show TTATATAACATACAGTTTATATATTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	25	0.0400	25	c.253 others(44): Show c.253-14149_253-14125dupTAATATATAAACTGTATGTTATATA	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64367195	T T	TTTATATA others(18): Show TTTATATATTATATATAATATACAGA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	138	0.0072	25	c.253 others(44): Show c.253-14140_253-14139insTCTGTATATTATATATAATATATAA	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64367213	C C	CATACAGT others(18): Show CATACAGTTTATATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01433.hp1 HG02135.hp2 others(2): Show HG01257.hp2 HG01433.hp1 HG02135.hp2 HG02976.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0013 a0001c0001 a0001c0003 a0002c0013	a0001c0001t0002 a0001c0003t0001 a0002c0013t0001 a0001c0001t0002 a0001c0003t0001 a0002c0013t0001	a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0003t0001g0147 others(2): Show a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0003t0001g0147 a0001c0003t0001g0164 a0002c0013t0001g0187	5	27	0.1852	25	c.253 others(44): Show c.253-14158_253-14157insATTATATATAATATATAAACTGTAT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C14orf39_chr14_60430956_60491063	60434256	A A	ATATTAGT others(18): Show ATATTAGTTATATAATAATGTTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	289	0.0035	25	c.25 others(36): Show c.2564_*2588dupATATAACATTATTATATAACTAATA	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		1699		chr14	TogoVar
C14orf39_chr14_60430956_60491063	60434983	A A	ATATTATA others(18): Show ATATTATATTATAGTTATAATATAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	292	0.0034	25	c.18 others(36): Show c.1837_*1861dupACTATATTATAACTATAATATAATA	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		972		chr14	TogoVar
C16orf46_chr16_81055980_81082238	81058064	C C	CAAAACAA others(18): Show CAAAACAAAACAAAACAAAACAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG01168.hp2 others(10): Show HG00408.hp1 HG00558.hp2 HG01168.hp2 HG02074.hp1 HG02572.hp1 NA18945.hp1 NA18950.hp1 NA18979.hp1 NA18993.hp2 NA19005.hp2 NA19070.hp1 NA19079.hp1 NA19080.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0004 a0004c0007t0001g0031 a0004c0007t0001g0084 others(3): Show a0004c0007t0001g0004 a0004c0007t0001g0031 a0004c0007t0001g0084 a0004c0007t0001g0085 a0004c0007t0001g0090 a0004c0007t0001g0091	13	400	0.0325	25	c.30 others(36): Show c.3096_*3097insATTTTGTTTTGTTTTGTTTTGTTTT	C16orf46	ENSG00000166455.14	transcript	ENST00000299578.10	protein_coding		2915		chr16	TogoVar
C16orf46_chr16_81055980_81082238	81080667	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18991.hp1 NA18997.hp1 others(4): Show NA18982.hp2 NA18991.hp1 NA18997.hp1 NA19063.hp2 NA19083.hp1 NA19088.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0065 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0065	7	331	0.0211	25	c.-36 others(36): Show c.-3660_-3659insAAAAAAAAAAAAAAAAAAAAAAAAA	C16orf46	ENSG00000166455.14	transcript	ENST00000299578.10	protein_coding		3430		chr16	TogoVar
C16orf95_chr16_87297814_87322392	87305504	C C	CCACCCCC others(18): Show CCACCCCCCACGAGGCCCCCCGCCCG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0008 a0008c0012t0008	a0008c0012t0008g0116 a0008c0012t0008g0116	1	456	0.0022	25	c.701 others(40): Show c.701+214_701+215insCGGGCGGGGGGCCTCGTGGGGGGTG	C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	6/6			chr16	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(18): Show TTTTATATATATATATATTATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	282	0.0035	25	c.750 others(40): Show c.750+943_750+944insTTATATATATATATATTATATATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf98_chr17_38830086_38846438	38845112	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	50	0.0200	25	c.-37 others(36): Show c.-3724_-3723insAAAAAAAAAAAAAAAAAAAAAAAAA	C17orf98	ENSG00000275489.2	transcript	ENST00000614158.2	protein_coding		3675		chr17	TogoVar
C18orf63_chr18_74310839_74364189	74361904	A A	AATTATAT others(18): Show AATTATATACGTATAATATAATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG03209.hp1 HG02280.hp1 HG02809.hp1 HG03209.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0038 a0004c0004t0009g0101 a0004c0004t0009g0102 a0004c0004t0009g0038 a0004c0004t0009g0101 a0004c0004t0009g0102	3	362	0.0083	25	c.54 others(36): Show c.5457_*5458insATTATATACGTATAATATAATTTAT	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2716		chr18	TogoVar
C1GALT1C1_chrX_120620674_120635054	120632123	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	315	0.0032	25	c.-22 others(36): Show c.-2213_-2212insATTTTATTTTATTTTATTTTATTTT	C1GALT1C1	ENSG00000171155.8	transcript	ENST00000304661.6	protein_coding		2070		chrX	TogoVar
C1GALT1C1_chrX_120620674_120635054	120632128	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02809.hp1 others(2): Show HG02630.hp1 HG02717.hp1 HG02809.hp1 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	5	285	0.0175	25	c.-22 others(36): Show c.-2218_-2217insATTTTATTTTATTTTATTTTATTTT	C1GALT1C1	ENSG00000171155.8	transcript	ENST00000304661.6	protein_coding		2075		chrX	TogoVar
C1QA_chr1_22631628_22644678	22632560	G G	GGGCATGT others(18): Show GGGCATGTCATGTTTCTAACTCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02486.hp1 HG03098.hp2 others(1): Show HG00642.hp2 HG02486.hp1 HG03098.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	4	430	0.0093	25	c.-41 others(36): Show c.-4150_-4149insGGCATGTCATGTTTCTAACTCCTCT	C1QA	ENSG00000173372.18	transcript	ENST00000374642.8	protein_coding		4067		chr1	TogoVar
C1QL3_chr10_16508734_16526879	16519140	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00639.hp2 others(27): Show HG00438.hp2 HG00597.hp2 HG00639.hp2 HG01106.hp1 HG01433.hp2 HG02040.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03579.hp1 HG03831.hp2 HG03942.hp2 NA18944.hp2 NA18949.hp2 NA18960.hp2 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp2 NA19009.hp2 NA19055.hp1 NA19060.hp1 NA19067.hp1 NA19074.hp2 NA19082.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0040 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0083 a0001c0001t0002g0010 a0001c0001t0009g0051 a0001c0001t0010g0082	30	153	0.1961	25	c.588 others(42): Show c.588+1337_588+1338insAAAAAAAAAAAAAAAAAAAAAAAAA	C1QL3	ENSG00000165985.11	transcript	ENST00000298943.4	protein_coding	1/1			chr10	TogoVar
C1QTNF5_chr11_119333942_119345883	119344453	G G	GGCGGTGA others(18): Show GGCGGTGATTACAGAGCGAGAGTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	25	c.-38 others(36): Show c.-3827_-3803dupAAAACTCTCGCTCTGTAATCACCGC	C1QTNF5	ENSG00000223953.6	transcript	ENST00000528368.3	protein_coding		3571		chr11	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTTATATA others(18): Show TTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0341 a0001c0001t0004g0341	1	133	0.0075	25	c.57- others(40): Show c.57-2039_57-2038insTATATATATATATATATATATATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf185_chr1_51097228_51153086	51111370	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	214	0.0047	25	c.17- others(40): Show c.17-1091_17-1090insTTTTTTTTTTTTTTTTTTTTTTTTT	C1orf185	ENSG00000204006.11	transcript	ENST00000371759.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02886.hp2 HG02280.hp2 HG02886.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0272 a0001c0007t0001g0274 a0001c0007t0001g0272 a0001c0007t0001g0274	2	172	0.0116	25	c.35 others(36): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAAAAAAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C22orf42_chr22_32144006_32164303	32146587	C C	CTATAGTA others(18): Show CTATAGTATATAATATATATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02559.hp2 NA18522.hp2 HG01099.hp1 HG02559.hp2 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0022 a0001c0009t0002g0022	3	391	0.0077	25	c.29 others(36): Show c.2952_*2953insTATAATATATATATTATATACTATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2418		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0025 a0002c0007t0002g0025	1	114	0.0088	25	c.16 others(36): Show c.1637_*1638insAAAAAAATATATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar

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