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 genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
CCNB1_chr5_69162150_69183245	69176012	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	420	0.0024	30	c.108 others(47): Show c.1083+478_1083+479insTATATATATATATATATATATATATACA TA	CCNB1	ENSG00000134057.15	transcript	ENST00000256442.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCND2_chr12_4268762_4310353	4291207	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01256.hp2 HG01258.hp2 others(4): Show HG00621.hp2 HG01256.hp2 HG01258.hp2 HG03942.hp2 NA18960.hp2 NA18965.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0018 a0001c0001t0022	a0001c0001t0004g0137 a0001c0001t0005g0249 a0001c0001t0005g0316 others(4): Show a0001c0001t0004g0137 a0001c0001t0005g0249 a0001c0001t0005g0316 a0001c0001t0009g0253 a0001c0001t0018g0322 a0001c0001t0022g0136 a0001c0001t0022g0303	7	460	0.0152	30	c.720 others(47): Show c.720+2244_720+2245insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CCND2	ENSG00000118971.9	transcript	ENST00000261254.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCNJ_chr10_96038583_96065870	96040815	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01934.hp1 HG02148.hp2 others(3): Show HG01070.hp1 HG01934.hp1 HG02148.hp2 HG04204.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0024 a0001c0001t0009g0062 others(1): Show a0001c0001t0009g0008 a0001c0001t0009g0024 a0001c0001t0009g0062 a0001c0001t0009g0064	6	418	0.0144	30	c.-29 others(41): Show c.-2946_-2945insATATATATATATATATATATATATATACAC	CCNJ	ENSG00000107443.16	transcript	ENST00000465148.3	protein_coding		2767		chr10	TogoVar
CCNQ_chrX_153582925_153604139	153599211	C C	CCCGCCCC others(23): Show CCCGCCCCTCGCCGCCCCGCCCCGCCCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 NA19088.hp1 HG02135.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0058 a0001c0001t0001g0062	2	302	0.0066	30	c.-16 others(39): Show c.-168_-139dupCGAGGGGCGGGGCGGGGCGGCGAGGGGCGG	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		73		chrX	TogoVar
CCNT2_chr2_134913822_134964342	134929613	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02922.hp2 HG02965.hp2 others(7): Show HG00544.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp1 HG03492.hp1 NA18906.hp1 NA18952.hp1 NA18975.hp2 NA18998.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0024 a0001c0003t0002 a0001c0004t0005	a0001c0001t0004g0233 a0001c0001t0004g0243 a0001c0001t0005g0308 others(7): Show a0001c0001t0004g0233 a0001c0001t0004g0243 a0001c0001t0005g0308 a0001c0001t0006g0289 a0001c0001t0006g0316 a0001c0001t0011g0248 a0001c0001t0011g0250 a0001c0001t0024g0234 a0001c0003t0002g0034 a0001c0004t0005g0175	10	404	0.0248	30	c.241 others(47): Show c.241-7205_241-7204insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	CCNT2	ENSG00000082258.13	transcript	ENST00000264157.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCNT2_chr2_134913822_134964342	134931262	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	404	0.0025	30	c.241 others(47): Show c.241-5554_241-5553insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CCNT2	ENSG00000082258.13	transcript	ENST00000264157.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCNY_chr10_35331509_35577667	35465938	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01891.hp1 HG00323.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0011 a0001c0001t0005g0082 a0001c0001t0004g0011 a0001c0001t0005g0082	2	296	0.0068	30	c.155 others(49): Show c.155-17465_155-17464insAGAGAGAGAGAGAGAGAGAGAGAGTG TGTG	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35516661	C C	CTTCCTTT others(23): Show CTTCCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	296	0.0034	30	c.365 others(43): Show c.365+40_365+41insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCR3_chr3_46237460_46271706	46242976	T T	TACACATA others(23): Show TACACATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	408	0.0025	30	c.-12 others(45): Show c.-12+439_-12+440insCACATATATATATATATATATATATACACA	CCR3	ENSG00000183625.16	transcript	ENST00000395940.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCR3_chr3_46237460_46271706	46243002	T T	TACACATA others(23): Show TACACATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	408	0.0025	30	c.-12 others(45): Show c.-12+466_-12+467insACATATATATATATATATATATATATACAC	CCR3	ENSG00000183625.16	transcript	ENST00000395940.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCR3_chr3_46237460_46271706	46243002	T T	TATACACA others(23): Show TATACACATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00597.hp1 others(60): Show HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01123.hp1 HG01255.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01952.hp2 HG02015.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 NA18941.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18953.hp2 NA18957.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp2 NA18975.hp2 NA18985.hp2 NA18986.hp2 NA18995.hp2 NA18998.hp2 NA19003.hp1 NA19012.hp2 NA19058.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19082.hp1 NA19085.hp2 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0002t0001g0186 a0001c0005t0001g0002	63	408	0.1544	30	c.-12 others(45): Show c.-12+465_-12+466insTACACATATATATATATATATATATATACA	CCR3	ENSG00000183625.16	transcript	ENST00000395940.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCR3_chr3_46237460_46271706	46243002	T T	TATATACA others(23): Show TATATACACATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03540.hp1 HG02886.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0225 a0001c0001t0001g0226	2	408	0.0049	30	c.-12 others(45): Show c.-12+465_-12+466insTATACACATATATATATATATATATATACA	CCR3	ENSG00000183625.16	transcript	ENST00000395940.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCR6_chr6_167118096_167144141	167130970	G G	GGGCCCCC others(23): Show GGGCCCCCCTCCCTCCGGGACTCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp2 HG01243.hp1 others(31): Show HG00280.hp1 HG01074.hp2 HG01243.hp1 HG01243.hp2 HG01891.hp1 HG01978.hp2 HG02015.hp1 HG02074.hp2 HG02109.hp2 HG02148.hp1 HG02280.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02683.hp2 HG02698.hp2 HG02895.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG04184.hp2 NA18522.hp2 NA18949.hp2 NA18971.hp2 NA18983.hp1 NA18993.hp1 NA19001.hp2 NA19043.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0002t0022 a0001c0002t0031 a0001c0003t0004 a0001c0011t0005	a0001c0001t0001g0154 a0001c0001t0001g0353 a0001c0001t0001g0368 others(29): Show a0001c0001t0001g0154 a0001c0001t0001g0353 a0001c0001t0001g0368 a0001c0001t0007g0040 a0001c0001t0007g0122 a0001c0001t0007g0246 a0001c0001t0007g0337 a0001c0001t0012g0123 a0001c0001t0012g0146 a0001c0001t0012g0147 a0001c0001t0012g0296 a0001c0001t0017g0277 a0001c0001t0019g0251 a0001c0002t0002g0155 a0001c0002t0002g0346 a0001c0002t0002g0369 a0001c0002t0003g0041 a0001c0002t0003g0043 a0001c0002t0003g0153 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0348 a0001c0002t0006g0338 a0001c0002t0010g0048 a0001c0002t0010g0052 a0001c0002t0010g0339 a0001c0002t0022g0052 a0001c0002t0022g0361 a0001c0002t0031g0295 a0001c0003t0004g0256 a0001c0011t0005g0228	34	460	0.0739	30	c.-97 others(47): Show c.-97-5066_-97-5065insCCCCCCTCCCTCCGGGACTCCTCCCTCT GG	CCR6	ENSG00000112486.18	transcript	ENST00000341935.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCR6_chr6_167118096_167144141	167130973	A A	ACCCCCTC others(23): Show ACCCCCTCCCTCCGGGACTCCTCCCTCTGGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03579.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0061 a0001c0001t0007g0133 a0001c0001t0007g0061 a0001c0001t0007g0133	2	460	0.0044	30	c.-97 others(47): Show c.-97-5063_-97-5062insCCCTCCCTCCGGGACTCCTCCCTCTGGG CC	CCR6	ENSG00000112486.18	transcript	ENST00000341935.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCR6_chr6_167118096_167144141	167130978	C C	CCTCCCTC others(23): Show CCTCCCTCTGGACCCCCTCCCTCTGGGACCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0279 a0001c0003t0004g0279	1	460	0.0022	30	c.-97 others(47): Show c.-97-5039_-97-5038insCTGGGACCTCTCCCTCTGGACCCCCTCC CT	CCR6	ENSG00000112486.18	transcript	ENST00000341935.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCR8_chr3_39324709_39338680	39337233	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02015.hp2 HG02056.hp1 others(18): Show HG00621.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02257.hp1 HG02717.hp1 HG02886.hp1 HG03490.hp1 HG03492.hp2 HG04184.hp2 HG06807.hp1 NA18946.hp1 NA18963.hp2 NA18993.hp2 NA19003.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19066.hp1 NA19068.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0025 a0002c0002t0001g0002 a0002c0002t0001g0003	21	398	0.0528	30	c.38 others(41): Show c.3834_*3835insATATATATATATATATATATATATATATAT	CCR8	ENSG00000179934.7	transcript	ENST00000326306.5	protein_coding		3554		chr3	TogoVar
CCSER1_chr4_90122394_91610295	90551706	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	38	0.0263	30	c.172 others(51): Show c.1725-76298_1725-76297insATATATATATATATATATATATAT ATATAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91296483	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0025 a0002c0002t0006g0025	1	38	0.0263	30	c.221 others(53): Show c.2217+210492_2217+210493insATATATATATATATATATATAT TTATTTAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91411491	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	38	0.0263	30	c.221 others(53): Show c.2218-187075_2218-187046dupTATATATATATATATATATATA TATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER2_chr10_84323589_84523517	84483953	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0080 a0002c0002t0005g0080	1	370	0.0027	30	c.232 others(49): Show c.2325+6304_2325+6333dupTATATATATATATATATATATATATA TATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84512405	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGGGGGAGGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0022 a0002c0003t0006g0022	1	370	0.0027	30	c.232 others(49): Show c.2326-1033_2326-1032insAGGGGGAGGAGAGAGAGAGGAGAGAG AGAG	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCZ1B_chr7_6793937_6831275	6825641	C C	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	354	0.0028	30	c.120 others(45): Show c.120+436_120+437insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	1/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6825661	A A	ACACACAC others(23): Show ACACACACACACACACACACACCCACACACC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0031 a0003c0004t0006g0031	1	354	0.0028	30	c.120 others(45): Show c.120+416_120+417insGGTGTGTGGGTGTGTGTGTGTGTGTGTGTG	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	1/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830739	C C	CACACACA others(23): Show CACACACACACACACACACACATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0108 a0003c0004t0011g0108	1	354	0.0028	30	c.-45 others(41): Show c.-4543_-4542insATATATATATGTGTGTGTGTGTGTGTGTGT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4465		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830739	C C	CACATATA others(23): Show CACATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0168 a0005c0008t0006g0168	1	354	0.0028	30	c.-45 others(41): Show c.-4543_-4542insATATATATATATATATATATATATATATGT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4465		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830739	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0130 a0002c0003t0003g0130	1	354	0.0028	30	c.-45 others(41): Show c.-4543_-4542insATATATATATATATATATATATATATATAT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4465		chr7	TogoVar
CCZ1_chr7_5893733_5931550	5920470	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	114	0.0088	30	c.110 others(47): Show c.1106+521_1106+522insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CD109_chr6_73691203_73833313	73780752	C C	CATATAAA others(23): Show CATATAAATATATTTTATGTATATATATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp1 HG01515.hp2 others(3): Show HG00140.hp2 HG01515.hp1 HG01515.hp2 HG02015.hp2 NA18963.hp2 NA19085.hp1	a0002 a0004 a0015 a0002 a0004 a0015	a0002c0002 a0002c0003 a0004c0005 others(1): Show a0002c0002 a0002c0003 a0004c0005 a0015c0016	a0002c0002t0002 a0002c0003t0004 a0004c0005t0007 others(1): Show a0002c0002t0002 a0002c0003t0004 a0004c0005t0007 a0015c0016t0018	a0002c0002t0002g0090 a0002c0003t0004g0059 a0004c0005t0007g0195 others(3): Show a0002c0002t0002g0090 a0002c0003t0004g0059 a0004c0005t0007g0195 a0004c0005t0007g0204 a0015c0016t0018g0040 a0015c0016t0018g0272	6	362	0.0166	30	c.190 others(47): Show c.1902+332_1902+361dupGTATATATATAATATATAAATATATTTT AT	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	16/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD163L1_chr12_7349960_7449153	7389960	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATTTATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	384	0.0026	30	c.205 others(49): Show c.2050+6134_2050+6135insTATAAATATATATATATATATATATA TATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	8/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7389960	T T	TTATATAT others(23): Show TTATATATATATATATATATATATTTATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0117 a0001c0029t0001g0117	1	384	0.0026	30	c.205 others(49): Show c.2050+6134_2050+6135insTATATAAATATATATATATATATATA TATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	8/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7421024	C C	CATATATA others(23): Show CATATATATATATACGTGTATATATATACAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 homoSapiens_chm13v2.hp1 HG02280.hp1 homoSapiens_chm13v2.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0044 a0001c0001 a0013c0044	a0001c0001t0003 a0013c0044t0002 a0001c0001t0003 a0013c0044t0002	a0001c0001t0003g0234 a0013c0044t0002g0357 a0001c0001t0003g0234 a0013c0044t0002g0357	2	384	0.0052	30	c.766 others(49): Show c.766+11391_766+11392insATGTATATATATACACGTATATATAT ATAT	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7421049	G G	GTATATAC others(23): Show GTATATACATATATATGTATATATACGTATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0117 a0001c0029t0001g0117	1	384	0.0026	30	c.766 others(49): Show c.766+11366_766+11367insTATACGTATATATACATATATATGTA TATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7421049	G G	GTATATAC others(23): Show GTATATACGTATATATGTATATATACGTATA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	384	0.0026	30	c.766 others(49): Show c.766+11337_766+11366dupTATACGTATATATACATATATACGTA TATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7421077	A A	ATATATAT others(23): Show ATATATATACGTATATATATGTATATATACG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19083.hp1 NA18961.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0001g0210 a0001c0001t0001g0228	2	384	0.0052	30	c.766 others(49): Show c.766+11338_766+11339insCGTATATATACATATATATACGTATA TATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD19_chr16_28926971_28944342	28929885	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	400	0.0025	30	c.-21 others(41): Show c.-2116_-2115insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2085		chr16	TogoVar
CD19_chr16_28926971_28944342	28929891	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	30	c.-21 others(41): Show c.-2110_-2109insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2079		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18988.hp1 HG02040.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0001t0001g0001 a0001c0001t0002g0005	2	400	0.0050	30	c.-21 others(41): Show c.-2108_-2107insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATAGAGA others(23): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA18962.hp1 HG00438.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0005 a0001c0001t0001g0001 a0001c0001t0006g0005	2	400	0.0050	30	c.-21 others(41): Show c.-2108_-2107insATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATATAGA others(23): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	400	0.0025	30	c.-21 others(41): Show c.-2108_-2107insATATAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATATATA others(23): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	400	0.0025	30	c.-21 others(41): Show c.-2108_-2107insATATATAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	400	0.0025	30	c.-21 others(41): Show c.-2108_-2107insATATATATAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD226_chr18_69848274_69952873	69851192	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02055.hp1 HG01261.hp2 HG02055.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0007 a0004c0005t0100 a0002c0002t0007 a0004c0005t0100	a0002c0002t0007g0153 a0004c0005t0100g0104 a0002c0002t0007g0153 a0004c0005t0100g0104	2	256	0.0078	30	c.13 others(43): Show c.13121_*13122insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding		2081		chr18	TogoVar
CD2AP_chr6_47472789_47632263	47566323	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0229 a0001c0001t0021g0230 a0001c0001t0021g0229 a0001c0001t0021g0230	2	322	0.0062	30	c.542 others(47): Show c.542-7740_542-7739insTATATATATATATATATATACACACACA CA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47566323	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 NA18939.hp1 others(3): Show HG01256.hp1 HG01258.hp2 NA18939.hp1 NA18985.hp1 NA19056.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0233 others(3): Show a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0005g0255	6	322	0.0186	30	c.542 others(47): Show c.542-7740_542-7739insTATATATATATATATATATATACACACA CA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47566323	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18967.hp2 NA18961.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0225 a0001c0001t0001g0236	2	322	0.0062	30	c.542 others(47): Show c.542-7740_542-7739insTATATATATATATATATATATATACACA CA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47589379	T T	TATACACA others(23): Show TATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03453.hp1 NA18955.hp1 HG00140.hp1 HG03453.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0085 a0001c0001t0002 a0001c0001t0009 a0001c0001t0085	a0001c0001t0002g0034 a0001c0001t0009g0002 a0001c0001t0085g0147 a0001c0001t0002g0034 a0001c0001t0009g0002 a0001c0001t0085g0147	3	322	0.0093	30	c.110 others(49): Show c.1109-6481_1109-6480insTACACACACACACACACACACACACA CACA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47589565	C C	CACACATA others(23): Show CACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02135.hp2 HG02809.hp2 HG00597.hp1 HG02135.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0057 a0001c0001t0004 a0001c0001t0057	a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0057g0288 a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0057g0288	3	322	0.0093	30	c.110 others(49): Show c.1109-6295_1109-6294insCACATATATATATATATATATATATA TATA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47589565	C C	CACATATA others(23): Show CACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02886.hp2 NA18939.hp1 HG01255.hp2 HG02886.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0054 a0001c0001t0055 a0001c0001t0001 a0001c0001t0054 a0001c0001t0055	a0001c0001t0001g0257 a0001c0001t0054g0211 a0001c0001t0055g0098 a0001c0001t0001g0257 a0001c0001t0054g0211 a0001c0001t0055g0098	3	322	0.0093	30	c.110 others(49): Show c.1109-6295_1109-6294insCATATATATATATATATATATATATA TATA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47610971	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0103 a0001c0001t0035g0103	1	322	0.0031	30	c.181 others(49): Show c.1815-1501_1815-1500insATATATATATATATATATATATATAT ATTT	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD300LB_chr17_74516174_74536475	74533641	G G	GAAAAGAA others(23): Show GAAAAGAAAAGGAAAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	406	0.0025	30	c.-22 others(41): Show c.-2292_-2291insTCTCTCTCTCTCTCTCTTTCCTTTTCTTTT	CD300LB	ENSG00000178789.9	transcript	ENST00000392621.6	protein_coding		2167		chr17	TogoVar

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