Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BZW2_chr7_16641181_16711517	16656137	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0282 a0001c0001t0003g0282	1	418	0.0024	30	c.-7- others(45): Show c.-7-9286_-7-9285insTATATATATATATATATATATATATATATA	BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
BZW2_chr7_16641181_16711517	16656150	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	418	0.0024	30	c.-7- others(45): Show c.-7-9286_-7-9285insTATATATATATATATATATATATACACACA	BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
C10orf67_chr10_23197696_23349797	23297230	C C	CCCTTTCC others(23): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18955.hp2 HG03579.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0289 a0001c0001t0003g0323 a0001c0001t0001g0289 a0001c0001t0003g0323	2	326	0.0061	30	c.703 others(47): Show c.703-5981_703-5952dupAAAGGAAAGGAAAGGAAAGGAAAGGAAA GG	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	5/15			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126442478	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03927.hp1 NA18950.hp2 others(2): Show HG00280.hp2 HG03927.hp1 NA18950.hp2 NA18966.hp1 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0002 a0001c0001 a0002c0004 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0002c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0002 a0003c0002t0001	a0001c0001t0001g0078 a0001c0001t0002g0136 a0001c0001t0002g0185 others(2): Show a0001c0001t0001g0078 a0001c0001t0002g0136 a0001c0001t0002g0185 a0002c0004t0002g0093 a0003c0002t0001g0068	5	218	0.0229	30	c.218 others(51): Show c.2189-12658_2189-12629dupATATATATATATATATATATATAT ATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	7/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126564998	A A	ATATATAA others(23): Show ATATATAATATATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG01070.hp1 others(32): Show HG00280.hp1 HG00597.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01361.hp1 HG01516.hp2 HG01978.hp1 HG01981.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02293.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02922.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03490.hp2 HG03516.hp2 HG03831.hp2 HG04204.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19064.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0002c0003 others(6): Show a0001c0001 a0001c0008 a0002c0003 a0002c0004 a0002c0011 a0003c0002 a0003c0022 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0008t0001 a0002c0003t0003 a0002c0003t0004 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0011t0002 a0002c0011t0003 a0003c0002t0001 a0003c0002t0002 a0003c0002t0004 a0003c0002t0005 a0003c0022t0003 a0004c0005t0001 a0005c0006t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0020 others(32): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0108 a0001c0001t0001g0170 a0001c0001t0002g0122 a0001c0001t0002g0131 a0001c0001t0002g0209 a0001c0001t0003g0044 a0001c0001t0006g0155 a0001c0008t0001g0067 a0002c0003t0003g0081 a0002c0003t0004g0049 a0002c0004t0001g0059 a0002c0004t0001g0216 a0002c0004t0003g0126 a0002c0004t0004g0217 a0002c0011t0002g0159 a0002c0011t0003g0010 a0003c0002t0001g0013 a0003c0002t0001g0031 a0003c0002t0001g0053 a0003c0002t0001g0065 a0003c0002t0001g0105 a0003c0002t0001g0106 a0003c0002t0001g0173 a0003c0002t0002g0034 a0003c0002t0004g0058 a0003c0002t0005g0169 a0003c0022t0003g0156 a0004c0005t0001g0057 a0004c0005t0001g0060 a0004c0005t0001g0195 a0005c0006t0001g0007	35	218	0.1606	30	c.314 others(49): Show c.314-51089_314-51060dupATATATAATATATATTATATATATTA TATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565375	A A	AATAATAT others(23): Show AATAATATATATTATATATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG06807.hp2 NA18963.hp2 others(2): Show HG02109.hp1 HG06807.hp2 NA18963.hp2 NA19064.hp2 NA19081.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0001c0014 a0002c0003 others(1): Show a0001c0008 a0001c0014 a0002c0003 a0003c0013	a0001c0008t0003 a0001c0014t0001 a0002c0003t0001 others(1): Show a0001c0008t0003 a0001c0014t0001 a0002c0003t0001 a0003c0013t0003	a0001c0008t0003g0124 a0001c0014t0001g0123 a0002c0003t0001g0097 others(2): Show a0001c0008t0003g0124 a0001c0014t0001g0123 a0002c0003t0001g0097 a0003c0013t0003g0002 a0003c0013t0003g0202	5	218	0.0229	30	c.314 others(49): Show c.314-51466_314-51437dupATATAATATAATATATATAATATATA TTAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C11orf65_chr11_108377755_108472529	108408676	A A	AATAACAT others(23): Show AATAACATAACATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA21309.hp2 HG01074.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0188 a0001c0001t0001g0190	2	330	0.0061	30	c.175 others(47): Show c.175-1528_175-1527insGTTATGTTATGTTATGTTATGTTATGTT AT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTCTTT others(23): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	422	0.0024	30	c.57 others(41): Show c.5702_*5731dupAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(23): Show CTTTTCTTTCTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	422	0.0024	30	c.57 others(41): Show c.5731_*5732insAGAAAAGAAAAGAAAAGAAAAGAAAGAAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(23): Show CTTTTCTTTTCTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA18994.hp2 HG02976.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0002g0000 a0001c0001t0003g0000	2	422	0.0047	30	c.57 others(41): Show c.5731_*5732insAGAAAAGAAAAGAAAAGAAAGAAAAGAAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(23): Show CTTTTCTTTTCTTTTCTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 NA19000.hp2 NA19030.hp2 HG01168.hp1 NA19000.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	3	422	0.0071	30	c.57 others(41): Show c.5731_*5732insAGAAAAGAAAAGAAAGAAAAGAAAAGAAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(23): Show CTTTTCTTTTCTTTTCTTTTCTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA19001.hp1 HG01099.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0002g0000 a0001c0001t0003g0000	2	422	0.0047	30	c.57 others(41): Show c.5731_*5732insAGAAAAGAAAGAAAAGAAAAGAAAAGAAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(23): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	422	0.0024	30	c.57 others(41): Show c.5731_*5732insAGAAAGAAAAGAAAAGAAAAGAAAAGAAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C12orf40_chr12_39621183_39726914	39711838	T T	TGTATACA others(23): Show TGTATACACATGCATGTGTATGTGTATACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18747.hp2 HG00609.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0309 a0001c0001t0001g0271 a0001c0001t0001g0309	2	360	0.0056	30	c.141 others(49): Show c.1412-4876_1412-4847dupCATGTGTATGTGTATACACGTATACA CATG	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39712389	T T	TACCTGTA others(23): Show TACCTGTATGTATATATACATACGTATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA20129.hp2 NA18522.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0335 a0003c0005t0001g0336 a0003c0005t0001g0335 a0003c0005t0001g0336	2	360	0.0056	30	c.141 others(49): Show c.1412-4365_1412-4336dupCCTGTATGTATATATACATACGTATA TACA	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf56_chr12_64259762_64395758	64313274	A A	AAAAAAGA others(23): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18950.hp1 HG03486.hp2 NA18950.hp1	a0002 a0003 a0002 a0003	a0002c0009 a0003c0004 a0002c0009 a0003c0004	a0002c0009t0012 a0003c0004t0001 a0002c0009t0012 a0003c0004t0001	a0002c0009t0012g0168 a0003c0004t0001g0265 a0002c0009t0012g0168 a0003c0004t0001g0265	2	312	0.0064	30	c.895 others(45): Show c.895-523_895-522insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	4/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64313274	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01358.hp1 HG01070.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0076 a0002c0002t0003g0197 a0002c0002t0001g0076 a0002c0002t0003g0197	2	312	0.0064	30	c.895 others(45): Show c.895-523_895-522insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	4/12			chr12	TogoVar
C14orf132_chr14_96034362_96098971	96049516	G G	GTATATAT others(23): Show GTATATATATACACATATATACGTATATACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	372	0.0027	30	c.27+ others(47): Show c.27+10010_27+10011insGTATATACATATATATATACACATATAT AC	C14orf132	ENSG00000227051.7	transcript	ENST00000555004.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
C14orf39_chr14_60430956_60491063	60433797	T T	TATAATAA others(23): Show TATAATAATGTTATATCATTATAGCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02486.hp2 others(15): Show HG01106.hp1 HG01884.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA19043.hp2 NA20300.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0007 a0003c0004t0002 a0003c0004t0007	a0003c0004t0002g0005 a0003c0004t0002g0033 a0003c0004t0002g0036 others(7): Show a0003c0004t0002g0005 a0003c0004t0002g0033 a0003c0004t0002g0036 a0003c0004t0002g0172 a0003c0004t0002g0173 a0003c0004t0002g0177 a0003c0004t0002g0179 a0003c0004t0002g0190 a0003c0004t0002g0196 a0003c0004t0007g0195	18	294	0.0612	30	c.30 others(41): Show c.3047_*3048insTATATAGCTATAATGATATAACATTATTAT	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		2158		chr14	TogoVar
C16orf46_chr16_81055980_81082238	81058030	C C	CAAACAAA others(23): Show CAAACAAAACAAAACAAAACAAAACAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0084 a0004c0007t0001g0084	1	406	0.0025	30	c.31 others(41): Show c.3101_*3130dupTGTTTTGTTTTGTTTTGTTTTGTTTTGTTT	C16orf46	ENSG00000166455.14	transcript	ENST00000299578.10	protein_coding		2949		chr16	TogoVar
C16orf46_chr16_81055980_81082238	81058064	C C	CAAAACAA others(23): Show CAAAACAAAACAAAACAAAACAAAACAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18981.hp2 NA19057.hp2 NA18978.hp2 NA18981.hp2 NA19057.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0004 a0004c0007t0001g0030 a0004c0007t0001g0189 a0004c0007t0001g0004 a0004c0007t0001g0030 a0004c0007t0001g0189	3	406	0.0074	30	c.30 others(41): Show c.3096_*3097insATTTTGTTTTGTTTTGTTTTGTTTTGTTTT	C16orf46	ENSG00000166455.14	transcript	ENST00000299578.10	protein_coding		2915		chr16	TogoVar
C16orf46_chr16_81055980_81082238	81080667	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01346.hp2 HG02615.hp2 others(2): Show HG00621.hp1 HG01346.hp2 HG02615.hp2 HG03471.hp1 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0029 others(1): Show a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0029 a0002c0002t0001g0059	5	406	0.0123	30	c.-36 others(41): Show c.-3660_-3659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C16orf46	ENSG00000166455.14	transcript	ENST00000299578.10	protein_coding		3430		chr16	TogoVar
C17orf58_chr17_67986099_68001469	67994535	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	412	0.0024	30	c.77- others(43): Show c.77-552_77-551insTTATATATATATATATATATATATATATAT	C17orf58	ENSG00000186665.10	transcript	ENST00000580729.3	protein_coding	1/3			chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	441	0.0023	30	c.750 others(45): Show c.750+943_750+972dupTATATATATATATATATATATATATATATA	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390330	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01934.hp1 HG02523.hp1 others(10): Show HG00621.hp2 HG01934.hp1 HG02523.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03490.hp1 NA18747.hp1 NA18942.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0235 a0001c0001t0001g0289 a0001c0001t0001g0291 others(9): Show a0001c0001t0001g0235 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0295 a0002c0002t0001g0022 a0002c0002t0001g0044 a0002c0002t0001g0050 a0002c0002t0001g0184 a0002c0002t0001g0254 a0002c0002t0001g0287 a0002c0002t0001g0310 a0002c0002t0001g0387	13	441	0.0295	30	c.750 others(45): Show c.750+972_750+973insTATATATATATATATATATATATATCTATA	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390330	A A	ATATATAT others(23): Show ATATATATATATATATATATCTATATATATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0346 a0002c0002t0001g0346	1	441	0.0023	30	c.750 others(45): Show c.750+972_750+973insTATATATATATATATCTATATATATCTATA	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390330	A A	ATATATAT others(23): Show ATATATATATATATATCTATATATATATATC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0104	1	441	0.0023	30	c.750 others(45): Show c.750+972_750+973insTATATATATATCTATATATATATATCTATA	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390330	A A	ATATATAT others(23): Show ATATATATATATATCTATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	441	0.0023	30	c.750 others(45): Show c.750+972_750+973insTATATATATCTATATATATATATATCTATA	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390330	A A	ATATATAT others(23): Show ATATATATCTATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	441	0.0023	30	c.750 others(45): Show c.750+972_750+973insTATCTATATATATATATATATATATCTATA	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(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	431	0.0023	30	c.-37 others(41): Show c.-3724_-3723insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C17orf98	ENSG00000275489.2	transcript	ENST00000614158.2	protein_coding		3675		chr17	TogoVar
C17orf99_chr17_78141385_78171297	78171016	A A	ACCGCAAG others(23): Show ACCGCAAGTACCTGGTCATTGGTGACCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0246 a0003c0004t0002g0246	1	446	0.0022	30	c.49 others(41): Show c.4970_*4971insCCGCAAGTACCTGGTCATTGGTGACCTGCT	C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding		4720		chr17	TogoVar
C18orf63_chr18_74310839_74364189	74360461	A A	AAGGGAGA others(23): Show AAGGGAGACCAGAATTGGAAATCGCAAGAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0229 a0004c0005t0004g0229	1	372	0.0027	30	c.40 others(41): Show c.4014_*4015insAGGGAGACCAGAATTGGAAATCGCAAGAAC	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		1273		chr18	TogoVar
C19orf85_chr19_55458001_55469751	55466676	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	402	0.0025	30	c.-21 others(41): Show c.-2123_-2122insACACACACACACACACACACACACACACAC	C19orf85	ENSG00000283567.2	transcript	ENST00000635964.2	protein_coding		1926		chr19	TogoVar
C1GALT1C1_chrX_120620674_120635054	120632128	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	324	0.0031	30	c.-22 others(41): Show c.-2218_-2217insATTTTATTTTATTTTATTTTATTTTATTTT	C1GALT1C1	ENSG00000171155.8	transcript	ENST00000304661.6	protein_coding		2075		chrX	TogoVar
C1QL3_chr10_16508734_16526879	16519140	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	460	0.0022	30	c.588 others(47): Show c.588+1337_588+1338insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	C1QL3	ENSG00000165985.11	transcript	ENST00000298943.4	protein_coding	1/1			chr10	TogoVar
C1QTNF9_chr13_24304580_24327531	24309282	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	2	466	0.0043	30	c.-35 others(39): Show c.-357_-356insATATATATATATATATATATATATATATAT	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		297		chr13	TogoVar
C1QTNF9_chr13_24304580_24327531	24309283	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG01074.hp2 others(30): Show HG00280.hp2 HG00544.hp1 HG01074.hp2 HG01109.hp2 HG01192.hp2 HG01257.hp2 HG01361.hp1 HG01928.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02258.hp1 HG02523.hp1 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02970.hp2 HG03195.hp1 HG03225.hp2 HG03669.hp1 HG03942.hp2 HG04184.hp1 NA18906.hp1 NA18982.hp1 NA18984.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA19010.hp1 NA19057.hp1 NA19079.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0007	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0006 a0007c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0002c0002t0001g0166 a0002c0002t0001g0171 a0003c0003t0001g0004 a0003c0003t0001g0038 a0003c0003t0001g0169 a0003c0003t0001g0170 a0004c0004t0006g0137 a0007c0007t0001g0139	33	466	0.0708	30	c.-35 others(39): Show c.-356_-355insTATATATATATATATATATATATATATATA	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		296		chr13	TogoVar
C1RL_chr12_7089554_7114214	7108993	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0282 a0003c0004t0009g0282	1	438	0.0023	30	c.71+ others(43): Show c.71+116_71+117insTACACACACACACACACACACACACACACA	C1RL	ENSG00000139178.12	transcript	ENST00000266542.9	protein_coding	1/5			chr12	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02056.hp1 HG02080.hp1 others(6): Show HG00735.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02683.hp1 HG02735.hp2 HG03710.hp1 NA18947.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0175 a0001c0001t0001g0261 a0001c0001t0001g0406 others(6): Show a0001c0001t0001g0175 a0001c0001t0001g0261 a0001c0001t0001g0406 a0001c0001t0002g0386 a0001c0001t0002g0401 a0001c0001t0003g0168 a0001c0001t0003g0216 a0001c0001t0003g0320 a0001c0001t0005g0264	9	452	0.0199	30	c.57- others(45): Show c.57-2023_57-2022insATATATATATATATATATATATATATATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01069.hp1 others(14): Show HG00140.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01261.hp2 HG01515.hp2 HG02451.hp2 HG02630.hp1 HG02818.hp2 HG03017.hp1 HG03579.hp1 NA18940.hp2 NA18947.hp2 NA18977.hp2 NA18978.hp2 NA18998.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0143 others(14): Show a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0143 a0001c0001t0001g0183 a0001c0001t0001g0196 a0001c0001t0001g0246 a0001c0001t0001g0350 a0001c0001t0001g0396 a0001c0001t0001g0437 a0001c0001t0002g0076 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0002g0358 a0001c0001t0002g0390 a0001c0001t0002g0391 a0001c0001t0003g0054 a0001c0001t0003g0244	17	452	0.0376	30	c.57- others(45): Show c.57-2039_57-2038insTTATATATATATATATATATATATATATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf100_chr1_244347635_244394663	244383901	G G	GTTTTAAG others(23): Show GTTTTAAGGAAGGCAGAAGTAATGATTACAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	452	0.0022	30	c.326 others(47): Show c.326-5046_326-5017dupTAAGGAAGGCAGAAGTAATGATTACAAT TT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf127_chr1_10941475_10987076	10986123	G G	GCACACAC others(23): Show GCACACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0376 a0001c0003t0001g0376	1	392	0.0026	30	c.-40 others(41): Show c.-4087_-4086insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding		4048		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1076855	A A	AGGCTGAG others(23): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0070 a0003c0006t0001g0070	1	326	0.0031	30	c.60 others(41): Show c.6037_*6038insACCCCCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4967		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1076945	A A	AGGCTGAG others(23): Show AGGCTGAGTCTATGGGGACTCCGTGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	326	0.0031	30	c.59 others(41): Show c.5947_*5948insACCCCTCACGGAGTCCCCATAGACTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4877		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077061	G G	GGGGAGGC others(23): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	326	0.0031	30	c.58 others(41): Show c.5831_*5832insGGCACGGAGTCCCCATAGCCTCAGCCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4761		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077064	G G	GAGGCTGA others(23): Show GAGGCTGAGGCTACGGGGACTCCGTCGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02809.hp1 HG02818.hp1 others(3): Show HG02723.hp2 HG02809.hp1 HG02818.hp1 HG03209.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0002g0017 a0001c0001t0002g0074 a0001c0001t0002g0312 others(3): Show a0001c0001t0002g0017 a0001c0001t0002g0074 a0001c0001t0002g0312 a0001c0001t0005g0027 a0001c0001t0005g0072 a0001c0001t0010g0277	6	326	0.0184	30	c.58 others(41): Show c.5828_*5829insTCCCCGACGGAGTCCCCGTAGCCTCAGCCT	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4758		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077073	G G	GCTACGGG others(23): Show GCTACGGGGACTCCGTCGGGGAAGGCTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	326	0.0031	30	c.58 others(41): Show c.5819_*5820insACTCAGCCTTCCCCGACGGAGTCCCCGTAG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4749		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077073	G G	GCTACGGG others(23): Show GCTACGGGGACTCCGTCGGGGGAGGCTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	326	0.0031	30	c.58 others(41): Show c.5819_*5820insACTCAGCCTCCCCCGACGGAGTCCCCGTAG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4749		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077137	C C	CGGGGACT others(23): Show CGGGGACTCCGTGGGGGGAGGCTGAGGCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	326	0.0031	30	c.57 others(41): Show c.5755_*5756insATAGCCTCAGCCTCCCCCCACGGAGTCCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4685		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077180	C C	CCGGGAGG others(23): Show CCGGGAGGCTGAGGCTATGGGGACTCCGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0271 a0001c0002t0002g0272	2	326	0.0061	30	c.57 others(41): Show c.5712_*5713insCCACGGAGTCCCCATAGCCTCAGCCTCCCG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4642		chr1	TogoVar

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