Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(96): Show TGGCGGGTGAATAGATGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0019 a0002c0008t0019	a0002c0008t0019g0031 a0002c0008t0019g0031	1	338	0.0030	103	c.300 others(120): Show c.300-9386_300-9385insATAGATGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(96): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG03017.hp1 HG00140.hp2 HG01109.hp1 HG03017.hp1	a0002 a0008 a0002 a0008	a0002c0013 a0008c0009 a0002c0013 a0008c0009	a0002c0013t0001 a0002c0013t0036 a0008c0009t0007 a0002c0013t0001 a0002c0013t0036 a0008c0009t0007	a0002c0013t0001g0176 a0002c0013t0036g0206 a0008c0009t0007g0171 a0002c0013t0001g0176 a0002c0013t0036g0206 a0008c0009t0007g0171	3	338	0.0089	103	c.300 others(120): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596304	C C	CGGAGGGA others(96): Show CGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGCAGGGCGGAGG GAGATGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGGGGAGCA GGGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0223 a0001c0002t0002g0223	1	236	0.0042	103	c.237 others(120): Show c.237-1832_237-1831insAGCAGGACGGAGGGAGATGGGGGCAGGG CGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGG GGAGCAGGGTGGAGGGAGATGGGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82060168	A A	ATATATAT others(96): Show ATATATATAATATATATATATATTATATATATAATATATATATAATACAT ATATATATTATATATATATTATATATATATAATATATATATAATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	144	0.0069	103	c.879 others(118): Show c.879+259_879+260insATATATATATATTATATATATATTATATAT ATATAATATATATATAATATATATATGTATTATATATATATTATATATAT AATATATATATATATTATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82060211	A A	ATTATATA others(96): Show ATTATATATATATTATATATATATAATATATATATAATATATATATATTA TATATATATTATATATATAATATATATATAATATATATATATTATATATA TATT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp2 HG03239.hp2 HG01074.hp2 HG01123.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0005g0111 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0005g0111	3	144	0.0208	103	c.879 others(118): Show c.879+216_879+217insAATATATATATAATATATATATATTATATA TATATTATATATATAATATATATATAATATATATATATTATATATATATT ATATATATATAATATATATATAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNB2_chr10_18135424_18548557	18499637	A A	AAAGAAGA others(96): Show AAAGAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAG CACTAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAG CACT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp2 others(12): Show HG00738.hp1 HG01069.hp1 HG01071.hp2 HG02523.hp2 NA18941.hp1 NA18952.hp1 NA18952.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA19005.hp1 NA19009.hp2 NA19043.hp2 NA19070.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0029 a0001c0001t0046 a0001c0002t0002	a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 others(12): Show a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0003g0044 a0001c0001t0003g0193 a0001c0001t0004g0149 a0001c0001t0004g0156 a0001c0001t0004g0163 a0001c0001t0029g0009 a0001c0001t0046g0102 a0001c0002t0002g0065	15	200	0.0750	103	c.456 others(120): Show c.456+1165_456+1166insGAACCTAGAAGCCTGGGTACTATGGCTC ATGCCTGTAATCCAAGCACTAAGAACCTAGAAGCCTGGGTACTATGGCTC ATGCCTGTAATCCAAGCACTAAGAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18499637	A A	AAAGAAGA others(96): Show AAAGAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAG CACTAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAG CACT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp1 others(19): Show HG00738.hp2 HG01069.hp1 HG01071.hp1 HG02027.hp1 HG02027.hp2 NA18943.hp2 NA18952.hp1 NA18952.hp2 NA18969.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA19005.hp1 NA19009.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19070.hp2 NA19080.hp2 NA19087.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0019 a0001c0001t0034 a0001c0001t0056 a0001c0002t0002	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(19): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0003g0277 a0001c0001t0003g0280 a0001c0001t0014g0122 a0001c0001t0014g0146 a0001c0001t0019g0116 a0001c0001t0034g0017 a0001c0001t0056g0177 a0001c0002t0002g0217	22	302	0.0729	103	c.294 others(120): Show c.294+1165_294+1166insGAACCTAGAAGCCTGGGTACTATGGCTC ATGCCTGTAATCCAAGCACTAAGAACCTAGAAGCCTGGGTACTATGGCTC ATGCCTGTAATCCAAGCACTAAGAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CADM2_chr3_84953989_86079429	85212844	T T	TTCCTTCT others(96): Show TTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTCTTTCTTTCTTTCTT TCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	146	0.0069	103	c.61+ others(122): Show c.61+253178_61+253179insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN12_chr19_38725192_38749474	38735843	G G	GGGGCGGG others(96): Show GGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGCGGGGCGGG CGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCG GGGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0028 a0003c0005t0004g0028	1	342	0.0029	103	c.158 others(120): Show c.1583+266_1583+267insGCCCCGCCCCGCCCCGCCCGCCCCGCCC CGCCCCGCCCGCCCCGCCCCGCCCCGCCCGCCCCGCCCGCCCCGCCCGCC CCGCCCCGCCCGCCCCGCCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25459269	T T	TCTTTCTT others(96): Show TCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	186	0.0054	103	c.615 others(120): Show c.615-6604_615-6603insCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36			chr6	TogoVar
CCDC178_chr18_32932406_33445721	33179114	A A	ATATATAT others(96): Show ATATATATATATAAACTATATATATAAACTATATATATATAAACTATATA TATATATAAACTATATATATATAAACTATATATATAAACTATATATATAT AAAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	58	0.0172	103	c.223 others(124): Show c.2238+32781_2238+32782insGTTTATATATATATAGTTTATATA TATAGTTTATATATATATAGTTTATATATATATATAGTTTATATATATAT AGTTTATATATATAGTTTATATATATATA	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	20/22			chr18	TogoVar
CCDC38_chr12_95862048_95947614	95908443	A A	AAGAGGGG others(96): Show AAGAGGGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0119 a0002c0004t0001g0119	1	350	0.0029	103	c.305 others(120): Show c.305-1993_305-1992insCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCGTCTCCCCTCT	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCR4_chr3_32946644_32961349	32958016	C C	CCATCACA others(96): Show CCATCACAGGCTGTACCAAGCAATGGTGAGGAAATCATAGTGAGATAGAA ACTTTAGGGCACCAAAGACAATGCTGGTCAAAGGGGCTTTACGGCCCTTC ATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	388	0.0026	103	c.35 others(114): Show c.3511_*3512insCATCACAGGCTGTACCAAGCAATGGTGAGGAAAT CATAGTGAGATAGAAACTTTAGGGCACCAAAGACAATGCTGGTCAAAGGG GCTTTACGGCCCTTCATTT	CCR4	ENSG00000183813.7	transcript	ENST00000330953.6	protein_coding		1668		chr3	TogoVar
CCZ1B_chr7_6793937_6831275	6797863	A A	ATACACAC others(96): Show ATACACACACACACACACACACACACACACACACACACATATACATACAC ACACACACACACATATATATACACACACATATATATATACACACACACAC ACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01358.hp1 HG01975.hp1 others(40): Show HG00408.hp2 HG01358.hp1 HG01975.hp1 HG01978.hp1 HG02071.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02293.hp1 HG02523.hp1 HG02602.hp2 HG02735.hp2 HG03017.hp1 HG03239.hp1 HG03831.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18949.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18984.hp1 NA18991.hp2 NA18994.hp2 NA19002.hp1 NA19007.hp1 NA19055.hp1 NA19062.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp2 NA19082.hp2 NA19086.hp1 NA19089.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0012 a0002c0003 a0004c0012	a0002c0003t0003 a0004c0012t0003 a0002c0003t0003 a0004c0012t0003	a0002c0003t0003g0003 a0002c0003t0003g0021 a0002c0003t0003g0103 others(36): Show a0002c0003t0003g0003 a0002c0003t0003g0021 a0002c0003t0003g0103 a0002c0003t0003g0104 a0002c0003t0003g0105 a0002c0003t0003g0111 a0002c0003t0003g0113 a0002c0003t0003g0115 a0002c0003t0003g0117 a0002c0003t0003g0118 a0002c0003t0003g0121 a0002c0003t0003g0122 a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0135 a0002c0003t0003g0136 a0002c0003t0003g0137 a0002c0003t0003g0147 a0002c0003t0003g0148 a0002c0003t0003g0149 a0002c0003t0003g0150 a0002c0003t0003g0151 a0002c0003t0003g0153 a0002c0003t0003g0160 a0002c0003t0003g0162 a0002c0003t0003g0163 a0002c0003t0003g0164 a0002c0003t0003g0165 a0002c0003t0003g0166 a0002c0003t0003g0171 a0002c0003t0003g0172 a0002c0003t0003g0176 a0002c0003t0003g0177 a0002c0003t0003g0178 a0004c0012t0003g0134	43	354	0.1215	103	c.13 others(114): Show c.1360_*1361insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1073		chr7	TogoVar
CD163L1_chr12_7349960_7449153	7437235	T T	TAAATACT others(96): Show TAAATACTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAATA GTATTTAAATACTATTTAAATAGTATTTAAATAGTATTTAAATACTTTTA AATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0116 a0001c0004t0001g0116	1	384	0.0026	103	c.125 others(120): Show c.125-3542_125-3541insTATTTAAAAGTATTTAAATACTATTTAA ATACTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAATAGTA TTTAAATACTATTTAAATAGTATTT	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD36_chr7_80633642_80684274	80683074	G G	GTATATGT others(96): Show GTATATGTGTATATATGTGTATTTATACGTATATGTGTATTATGTGTATA TATACGTATATGTGTATATATGTGTATATATACGTATATGTGTATATATA CTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0157 a0001c0001t0039g0157	1	392	0.0026	103	c.66 others(114): Show c.6691_*6692insTATATGTGTATATATGTGTATTTATACGTATATG TGTATTATGTGTATATATACGTATATGTGTATATATGTGTATATATACGT ATATGTGTATATATACTTA	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding		3801		chr7	TogoVar
CDC73_chr1_193117031_193259815	193162238	A A	ATAATATA others(96): Show ATAATATATATTATATATTATCTATTATATTGTATATAATATATATTATA TATTATCTATTATATTGTATATAATATAATATATATTATCTATTATATTG TATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	274	0.0037	103	c.972 others(120): Show c.972+9803_972+9804insTTATATATTATCTATTATATTGTATATA ATATATATTATATATTATCTATTATATTGTATATAATATAATATATATTA TCTATTATATTGTATGTAATATATA	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDK14_chr7_90591321_91215590	91027758	G G	GCCTCTCC others(96): Show GCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCC CCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCC CTCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0038 a0001c0001t0030g0038	1	168	0.0060	103	c.104 others(124): Show c.1042-18098_1042-18097insTCCTCTCCCCTCCCCTCCCCTCCC CTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCTCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CELSR1_chr22_46356174_46542620	46366255	A A	AGAAAGGT others(96): Show AGAAAGGTGGGGGGGAGGAGAGGTGCACGGGGGGAGGAAAGGTGCGGGGG GAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGG GGAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0069 a0001c0001t0016g0069	1	104	0.0096	103	c.830 others(120): Show c.8300+130_8300+131insCTCCCCCCGCACCTTTCCTCCCCCCGCA CCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGT GCACCTCTCCTCCCCCCCACCTTTC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAA others(96): Show AAAAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATATGTATAC GGGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTTACTA TAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp1 others(42): Show HG00408.hp2 HG00423.hp1 HG00558.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01256.hp1 HG01346.hp2 HG01361.hp2 HG02027.hp1 HG02040.hp2 HG02083.hp2 HG02135.hp1 HG02300.hp2 HG02523.hp2 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp2 NA18968.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp1 NA18988.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19010.hp1 NA19011.hp2 NA19056.hp2 NA19082.hp1 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0008 a0001c0001 a0003c0003 a0003c0008	a0001c0001t0001 a0003c0003t0002 a0003c0003t0003 others(1): Show a0001c0001t0001 a0003c0003t0002 a0003c0003t0003 a0003c0008t0003	a0001c0001t0001g0069 a0003c0003t0002g0001 a0003c0003t0003g0001 others(21): Show a0001c0001t0001g0069 a0003c0003t0002g0001 a0003c0003t0003g0001 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0057 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0068 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0076 a0003c0003t0003g0077 a0003c0003t0003g0079 a0003c0003t0003g0170 a0003c0008t0003g0022	45	362	0.1243	103	c.478 others(120): Show c.478-1174_478-1173insAGATGGTCCTGAGTTGATAATTGAAACT GGCCAATATGTATACGGGTGTTCATGATAACATTCTCTCTTACTGTATGT GTTTGAAATTTACTATAATAAAAAA	CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAA others(96): Show AAAAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATATGTATAT GGGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTTACTA TAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG00642.hp1 others(29): Show HG00323.hp2 HG00621.hp1 HG00642.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02559.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18948.hp2 NA18966.hp2 NA18971.hp1 NA18979.hp1 NA18989.hp1 NA18999.hp1 NA19004.hp1 NA19054.hp2 NA19067.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0003c0003t0003 a0001c0001t0001 a0003c0003t0002 a0003c0003t0003	a0001c0001t0001g0108 a0003c0003t0002g0226 a0003c0003t0002g0227 others(17): Show a0001c0001t0001g0108 a0003c0003t0002g0226 a0003c0003t0002g0227 a0003c0003t0002g0228 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0047 a0003c0003t0003g0049 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0056 a0003c0003t0003g0061	32	362	0.0884	103	c.478 others(120): Show c.478-1174_478-1173insAGATGGTCCTGAGTTGATAATTGAAACT GGCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTACTGTATGT GTTTGAAATTTACTATAATAAAAAA	CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP170B_chr14_104860268_104901747	104884588	G G	GGGGGGGT others(96): Show GGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ACGGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGG GAAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0002 a0003c0026t0002	a0003c0026t0002g0250 a0003c0026t0002g0250	1	328	0.0031	103	c.177 others(118): Show c.1770+96_1770+97insGTGGAGGCGATGCCGGGGGTGGCGAGTGAG AGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGA GAGCCCTCGTGGGGAACGGGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104884742	C C	CGGGGGTG others(96): Show CGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAA CGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGG AACG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02683.hp1 HG03239.hp1 others(2): Show HG02559.hp2 HG02683.hp1 HG03239.hp1 HG03710.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0015g0042	5	328	0.0152	103	c.177 others(120): Show c.1770+199_1770+301dupTGGAGGTGATGCCGGGGGTGGCGAGTGA GAGCCCTCGTGGGGAACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGT GAGAGCCCTCGTGGGGAACGGGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104884896	C C	CGGGGGGT others(96): Show CGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ACCGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGG AACG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0108 a0001c0015t0001g0108	1	328	0.0031	103	c.177 others(120): Show c.1770+385_1770+386insCCTCGTGGGGAACCGGGGGTGGAGGTGA TGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGT GATGCCGGGGGTGGCGAGTGAGAGC	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP83_chr12_94302698_94464867	94454791	G G	GCCGGACG others(96): Show GCCGGACGCGCCACCTTTAAGAGCTGTAACACTCACTGCGAAAGTCTGCA GCTTCACTCCTGAAGCCAGCAATACCACGAACCCACCGGGAGGAATGAAC AACT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	364	0.0028	103	c.-15 others(122): Show c.-155+4663_-155+4765dupAGTTGTTCATTCCTCCCGGTGGGTTC GTGGTATTGCTGGCTTCAGGAGTGAAGCTGCAGACTTTCGCAGTGAGTGT TACAGCTCTTAAAGGTGGCGCGTCCGG	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	1/16			chr12	TogoVar
CERKL_chr2_181531672_181662105	181606429	G G	GGGGAGAG others(96): Show GGGGAGAGGAGGGGGAGGGGAGGGGAGAGGAGGGGGAGGGGAGGGGAGAG GAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGGGAGGAGAGGGGAGGGGAG AGGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	298	0.0034	103	c.239 others(120): Show c.239-2351_239-2350insTCCTCTCCCCTCCCCTCTCCTCCCCCCT CCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCCTCCTC TCCCCTCCCCTCCCCCTCCTCTCCC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CFAP46_chr10_132803392_132947570	132888336	A A	ACCTGCCA others(96): Show ACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCC GCCTGCACCCCTGCCGCCTGCACCCCTGCCGCCTTCACCCCTGCCGCCTG TACC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0020 a0020	a0020c0017 a0020c0017	a0020c0017t0001 a0020c0017t0001	a0020c0017t0001g0148 a0020c0017t0001g0148	1	246	0.0041	103	c.330 others(122): Show c.3305-2480_3305-2378dupGGTACAGGCGGCAGGGGTGAAGGCGG CAGGGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGT GCAGGCGGCAGGGGTGAAGGTGGCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20356115	C C	CTGTGAGG others(96): Show CTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAG GTAGTGACACTGTGAGCAGAGGTGGTCACACTGTGAGGGGAGGTGGTCAC ACTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0009 a0001c0012t0006g0009	1	236	0.0042	103	c.351 others(122): Show c.3514-4093_3514-4092insTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGAGGGGAGGTAGTGACACTGTGAGCAGAGGTGGTCAC ACTGTGAGGGGAGGTGGTCACACTGTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP74_chr1_1916957_2008786	1924223	G G	GACCACCC others(96): Show GACCACCCCCCAGCTCACAGCCCACCCCACCATCTCACCGCCCAGCCCCC CCATCTCACCAGCTGCCCCCTCCCCGGCACACCGCCCACCCCCCCATCTC ACCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp1 HG01123.hp2 others(51): Show HG00558.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG02004.hp1 HG02040.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18947.hp2 NA18952.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA19030.hp2 NA19043.hp2 NA19070.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0002 a0015 a0016 others(10): Show a0002 a0015 a0016 a0019 a0020 a0023 a0030 a0033 a0045 a0055 a0056 a0065 a0066	a0002c0004 a0002c0005 a0002c0008 others(18): Show a0002c0004 a0002c0005 a0002c0008 a0002c0056 a0002c0057 a0002c0074 a0002c0076 a0002c0084 a0015c0017 a0016c0024 a0016c0061 a0019c0026 a0020c0028 a0023c0035 a0030c0043 a0033c0100 a0045c0052 a0055c0097 a0056c0090 a0065c0099 a0066c0098	a0002c0004t0002 a0002c0005t0002 a0002c0008t0002 others(19): Show a0002c0004t0002 a0002c0005t0002 a0002c0008t0002 a0002c0008t0006 a0002c0056t0002 a0002c0057t0002 a0002c0074t0002 a0002c0076t0002 a0002c0084t0002 a0015c0017t0002 a0016c0024t0002 a0016c0061t0002 a0019c0026t0002 a0020c0028t0002 a0023c0035t0002 a0030c0043t0002 a0033c0100t0002 a0045c0052t0002 a0055c0097t0002 a0056c0090t0002 a0065c0099t0002 a0066c0098t0002	a0002c0004t0002g0031 a0002c0004t0002g0032 a0002c0004t0002g0065 others(51): Show a0002c0004t0002g0031 a0002c0004t0002g0032 a0002c0004t0002g0065 a0002c0004t0002g0070 a0002c0004t0002g0074 a0002c0004t0002g0079 a0002c0004t0002g0146 a0002c0004t0002g0227 a0002c0004t0002g0245 a0002c0004t0002g0258 a0002c0004t0002g0260 a0002c0005t0002g0017 a0002c0005t0002g0029 a0002c0005t0002g0067 a0002c0005t0002g0078 a0002c0005t0002g0082 a0002c0005t0002g0083 a0002c0005t0002g0120 a0002c0005t0002g0124 a0002c0005t0002g0136 a0002c0005t0002g0212 a0002c0008t0002g0003 a0002c0008t0002g0054 a0002c0008t0002g0113 a0002c0008t0002g0114 a0002c0008t0002g0193 a0002c0008t0002g0211 a0002c0008t0006g0167 a0002c0056t0002g0218 a0002c0057t0002g0060 a0002c0074t0002g0033 a0002c0076t0002g0069 a0002c0084t0002g0051 a0015c0017t0002g0026 a0015c0017t0002g0027 a0015c0017t0002g0073 a0015c0017t0002g0226 a0016c0024t0002g0004 a0016c0024t0002g0086 a0016c0024t0002g0126 a0016c0061t0002g0198 a0019c0026t0002g0011 a0019c0026t0002g0110 a0020c0028t0002g0056 a0020c0028t0002g0249 a0023c0035t0002g0121 a0023c0035t0002g0147 a0030c0043t0002g0275 a0033c0100t0002g0028 a0045c0052t0002g0118 a0055c0097t0002g0085 a0056c0090t0002g0001 a0065c0099t0002g0144 a0066c0098t0002g0173	54	278	0.1942	103	c.423 others(120): Show c.4234+167_4234+168insTGGTGAGATGGGGGGGTGGGCGGTGTGC CGGGGAGGGGGCAGCTGGTGAGATGGGGGGGCTGGGCGGTGAGATGGTGG GGTGGGCTGTGAGCTGGGGGGTGGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1924223	G G	GACCACCC others(96): Show GACCACCCCCCAGCTCACAGCCCACCCCCCCATCTCACCGCCCAGCCCCC CCATCTCACCAGCTGCCCCCTCCCCGACACACCGCCCACCCCCCCATCTC ACCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(70): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02040.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18950.hp1 NA18954.hp1 NA18969.hp2 NA18984.hp2 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19064.hp1 NA19070.hp2 NA19074.hp1 NA19085.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1	a0003 a0004 a0005 others(22): Show a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0014 a0018 a0025 a0026 a0027 a0028 a0031 a0032 a0038 a0046 a0048 a0049 a0052 a0058 a0059 a0060 a0061 a0063	a0003c0003 a0003c0013 a0003c0015 others(31): Show a0003c0003 a0003c0013 a0003c0015 a0004c0002 a0005c0007 a0005c0050 a0006c0019 a0007c0021 a0007c0023 a0007c0049 a0009c0011 a0009c0053 a0011c0010 a0014c0029 a0014c0046 a0014c0051 a0018c0027 a0025c0031 a0026c0063 a0026c0066 a0027c0034 a0028c0036 a0031c0042 a0032c0041 a0038c0086 a0046c0045 a0048c0058 a0049c0068 a0052c0062 a0058c0092 a0059c0093 a0060c0059 a0061c0095 a0063c0040	a0003c0003t0001 a0003c0003t0003 a0003c0013t0001 others(34): Show a0003c0003t0001 a0003c0003t0003 a0003c0013t0001 a0003c0015t0001 a0003c0015t0007 a0004c0002t0001 a0005c0007t0001 a0005c0050t0001 a0006c0019t0001 a0007c0021t0001 a0007c0023t0001 a0007c0049t0001 a0009c0011t0001 a0009c0053t0001 a0011c0010t0001 a0011c0010t0008 a0014c0029t0001 a0014c0046t0001 a0014c0051t0001 a0018c0027t0001 a0025c0031t0001 a0026c0063t0001 a0026c0066t0001 a0027c0034t0001 a0028c0036t0001 a0031c0042t0001 a0032c0041t0001 a0038c0086t0001 a0046c0045t0001 a0048c0058t0001 a0049c0068t0001 a0052c0062t0001 a0058c0092t0001 a0059c0093t0001 a0060c0059t0001 a0061c0095t0001 a0063c0040t0001	a0003c0003t0001g0088 a0003c0003t0001g0091 a0003c0003t0001g0092 others(70): Show a0003c0003t0001g0088 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0097 a0003c0003t0001g0099 a0003c0003t0001g0116 a0003c0003t0001g0166 a0003c0003t0001g0190 a0003c0003t0001g0192 a0003c0003t0001g0195 a0003c0003t0001g0199 a0003c0003t0001g0203 a0003c0003t0001g0210 a0003c0003t0001g0221 a0003c0003t0001g0235 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0003g0053 a0003c0013t0001g0141 a0003c0013t0001g0142 a0003c0013t0001g0159 a0003c0013t0001g0265 a0003c0013t0001g0278 a0003c0015t0001g0168 a0003c0015t0001g0186 a0003c0015t0001g0189 a0003c0015t0007g0244 a0004c0002t0001g0105 a0005c0007t0001g0048 a0005c0050t0001g0047 a0006c0019t0001g0111 a0006c0019t0001g0122 a0006c0019t0001g0125 a0007c0021t0001g0064 a0007c0021t0001g0240 a0007c0021t0001g0257 a0007c0023t0001g0030 a0007c0023t0001g0036 a0007c0023t0001g0081 a0007c0049t0001g0229 a0009c0011t0001g0135 a0009c0011t0001g0204 a0009c0011t0001g0213 a0009c0011t0001g0224 a0009c0011t0001g0228 a0009c0053t0001g0220 a0011c0010t0001g0014 a0011c0010t0008g0015 a0014c0029t0001g0012 a0014c0029t0001g0127 a0014c0046t0001g0087 a0014c0051t0001g0123 a0018c0027t0001g0267 a0018c0027t0001g0270 a0025c0031t0001g0005 a0025c0031t0001g0075 a0026c0063t0001g0002 a0026c0066t0001g0219 a0027c0034t0001g0076 a0027c0034t0001g0140 a0028c0036t0001g0163 a0031c0042t0001g0272 a0032c0041t0001g0139 a0038c0086t0001g0151 a0046c0045t0001g0034 a0048c0058t0001g0223 a0049c0068t0001g0214 a0052c0062t0001g0246 a0058c0092t0001g0037 a0059c0093t0001g0072 a0060c0059t0001g0025 a0061c0095t0001g0040 a0063c0040t0001g0134	73	278	0.2626	103	c.423 others(120): Show c.4234+167_4234+168insTGGTGAGATGGGGGGGTGGGCGGTGTGT CGGGGAGGGGGCAGCTGGTGAGATGGGGGGGCTGGGCGGTGAGATGGGGG GGTGGGCTGTGAGCTGGGGGGTGGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1924223	G G	GACCACCC others(96): Show GACCACCCCCCAGCTCACAGCCCACCCCCCCATCTCACCGCCCAGCCCCC CCATCTCACCAGCTGCCCCCTCCCCGGCACACCGCCCACCCCCCCATCTC ACCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02723.hp1 others(6): Show HG01884.hp2 HG02280.hp2 HG02723.hp1 HG02886.hp2 HG03139.hp2 HG03471.hp1 HG06807.hp1 NA18522.hp1 NA20300.hp1	a0002 a0012 a0029 others(1): Show a0002 a0012 a0029 a0057	a0002c0004 a0002c0089 a0012c0014 others(2): Show a0002c0004 a0002c0089 a0012c0014 a0029c0075 a0057c0091	a0002c0004t0002 a0002c0089t0002 a0012c0014t0001 others(2): Show a0002c0004t0002 a0002c0089t0002 a0012c0014t0001 a0029c0075t0001 a0057c0091t0005	a0002c0004t0002g0058 a0002c0089t0002g0101 a0012c0014t0001g0038 others(6): Show a0002c0004t0002g0058 a0002c0089t0002g0101 a0012c0014t0001g0038 a0012c0014t0001g0039 a0012c0014t0001g0041 a0012c0014t0001g0042 a0012c0014t0001g0104 a0029c0075t0001g0084 a0057c0091t0005g0024	9	278	0.0324	103	c.423 others(120): Show c.4234+167_4234+168insTGGTGAGATGGGGGGGTGGGCGGTGTGC CGGGGAGGGGGCAGCTGGTGAGATGGGGGGGCTGGGCGGTGAGATGGGGG GGTGGGCTGTGAGCTGGGGGGTGGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1924223	G G	GACCACCC others(96): Show GACCACCCCCCAGCTCACAGCCCACCCCCCCATCTCACCGCCCAGCCCCC CCATCTCACCAGCTGCCCCCTCCCGGGCACACCGCCCACCCCCCCATCTC ACCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(76): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01070.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp2 HG02717.hp2 HG02738.hp1 HG03098.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG04199.hp2 NA18747.hp2 NA18940.hp1 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18960.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19064.hp2 NA19065.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0010 others(9): Show a0001 a0008 a0010 a0013 a0017 a0021 a0037 a0043 a0044 a0053 a0054 a0062	a0001c0001 a0001c0006 a0001c0020 others(18): Show a0001c0001 a0001c0006 a0001c0020 a0001c0022 a0001c0055 a0001c0081 a0008c0009 a0008c0073 a0010c0025 a0010c0067 a0010c0069 a0013c0018 a0017c0030 a0017c0096 a0021c0033 a0037c0087 a0043c0088 a0044c0078 a0053c0064 a0054c0065 a0062c0094	a0001c0001t0001 a0001c0006t0001 a0001c0020t0001 others(18): Show a0001c0001t0001 a0001c0006t0001 a0001c0020t0001 a0001c0022t0001 a0001c0055t0001 a0001c0081t0001 a0008c0009t0001 a0008c0073t0001 a0010c0025t0001 a0010c0067t0001 a0010c0069t0001 a0013c0018t0001 a0017c0030t0001 a0017c0096t0001 a0021c0033t0001 a0037c0087t0001 a0043c0088t0001 a0044c0078t0001 a0053c0064t0001 a0054c0065t0001 a0062c0094t0001	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0022 others(76): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0050 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0128 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0006t0001g0020 a0001c0006t0001g0057 a0001c0006t0001g0080 a0001c0006t0001g0094 a0001c0006t0001g0115 a0001c0006t0001g0160 a0001c0006t0001g0188 a0001c0006t0001g0250 a0001c0020t0001g0130 a0001c0020t0001g0131 a0001c0020t0001g0133 a0001c0022t0001g0016 a0001c0022t0001g0117 a0001c0022t0001g0234 a0001c0055t0001g0230 a0001c0081t0001g0196 a0008c0009t0001g0103 a0008c0009t0001g0107 a0008c0009t0001g0138 a0008c0009t0001g0149 a0008c0009t0001g0170 a0008c0009t0001g0206 a0008c0073t0001g0242 a0010c0025t0001g0010 a0010c0025t0001g0162 a0010c0025t0001g0277 a0010c0067t0001g0259 a0010c0069t0001g0071 a0013c0018t0001g0023 a0013c0018t0001g0181 a0013c0018t0001g0184 a0017c0030t0001g0045 a0017c0030t0001g0154 a0017c0096t0001g0049 a0021c0033t0001g0008 a0021c0033t0001g0009 a0037c0087t0001g0197 a0043c0088t0001g0137 a0044c0078t0001g0132 a0053c0064t0001g0055 a0054c0065t0001g0253 a0062c0094t0001g0018	79	278	0.2842	103	c.423 others(120): Show c.4234+167_4234+168insTGGTGAGATGGGGGGGTGGGCGGTGTGC CCGGGAGGGGGCAGCTGGTGAGATGGGGGGGCTGGGCGGTGAGATGGGGG GGTGGGCTGTGAGCTGGGGGGTGGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1924227	A A	ACCCCCCA others(96): Show ACCCCCCAGCTCACAGCCCACCCCCCCATCTCACCGCCCAGCCCCCCCAT CTCACCAGCTGCCCCCTCCCCGACACACCGCCCACCCCCCATCTCACCAA CCAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0051 a0051	a0051c0071 a0051c0071	a0051c0071t0001 a0051c0071t0001	a0051c0071t0001g0077 a0051c0071t0001g0077	1	278	0.0036	103	c.423 others(120): Show c.4234+163_4234+164insGTGGTTGGTGAGATGGGGGGTGGGCGGT GTGTCGGGGAGGGGGCAGCTGGTGAGATGGGGGGGCTGGGCGGTGAGATG GGGGGGTGGGCTGTGAGCTGGGGGG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFI_chr4_109735695_109806999	109756922	A A	AAAGAAAG others(96): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0314 a0002c0003t0001g0314	1	354	0.0028	103	c.904 others(118): Show c.904+840_904+841insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109756930	A A	AAAGAAAG others(96): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	354	0.0028	103	c.904 others(118): Show c.904+832_904+833insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109756934	A A	AAAGAAAG others(96): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0320 a0002c0003t0001g0320	1	354	0.0028	103	c.904 others(118): Show c.904+828_904+829insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CHM_chrX_85856180_86052558	85911152	T T	TATATATA others(96): Show TATATATATATATGTATATATATATATGAATATATATATATGAATATATA TATGAATATATATATGAATATATATATGAATATATATATGAATATATATA TATG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	245	0.0041	103	c.124 others(120): Show c.1244+108_1244+109insCATATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATATATTCA TATATATATATACATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHTF18_chr16_783620_803074	795574	C C	CCCATGCC others(96): Show CCCATGCCCCCCCCGTGCTGCCCGTGTGGCTGTCCCCTCCCCCGTGCCCC CCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGCCCCGC CCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0084 a0020c0018t0001g0084	1	428	0.0023	103	c.217 others(120): Show c.2176-109_2176-108insATGCCCCCCCCGTGCTGCCCGTGTGGCT GTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCC CCGTGCCGCCCCGCCCCGCCCCTCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCCCCC others(96): Show GCCCCCCCCGTGCTGCCCGTGTGGCTGTCCCCTCCCCCGTGCCCCCCCCG TGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0085 a0020c0018t0001g0085	1	428	0.0023	103	c.217 others(120): Show c.2176-102_2176-101insCCCCCGTGCTGCCCGTGTGGCTGTCCCC TCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGC CGCCCCGCCCCGCCCCTCCCCTCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNBD1_chr8_86861415_87387859	87156273	G G	GTGTGTGT others(96): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATACATATATATATATATATAT ATATATATATATATATATATATATATATATGTTTTTTTTTTTTGAGACAG AGTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	152	0.0066	103	c.432 others(122): Show c.432-49719_432-49718insGTGTGTGTGTGTGTGTGTGTGTATAT ATACATATATATATATATATATATATATATATATATATATATATATATAT ATGTTTTTTTTTTTTGAGACAGAGTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTCCCTCC others(96): Show CTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCC TCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	223	0.0045	103	c.-42 others(114): Show c.-4215_-4214insTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL6A1_chr21_45976770_46010048	45990477	T T	TGGGGAGG others(96): Show TGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGG TGGACAGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGCGTGAAGGT GACC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0001 a0005c0023t0001	a0005c0023t0001g0060 a0005c0023t0001g0060	1	128	0.0078	103	c.100 others(120): Show c.1002+111_1002+112insCGTGAAGGTGACCGGGGAGGGATGGGGT GGACAGCGTGAAGGTGACCGGGGAGGGACGGAGTGGACGGCGTGAAGGTG ACCCGGGGAGGGATGGGGTGGACAG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	13/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158170	C C	CCTCCCTC others(96): Show CCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGT CTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCT CTCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA19057.hp1 HG01169.hp2 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0339 a0001c0002t0001g0131 a0001c0002t0001g0339	2	350	0.0057	103	c.510 others(122): Show c.510+23996_510+23997insCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPA5_chr7_130339816_130373730	130343171	T T	TTCTTTCT others(96): Show TTCTTTCTTTCTTTTTCTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCT TCCTTCCTTCCTTCTTCTTTCTTCTTTTCTTTCTTTTTCTTTCCTTCTTT CTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	412	0.0024	103	c.-21 others(114): Show c.-2186_-2185insTCTTTCTTTCTTTTTCTCTTTCTTTCTTTCTTCT TCTTTCTTTCTTTCTTCCTTCCTTCCTTCTTCTTTCTTCTTTTCTTTCTT TTTCTTTCCTTCTTTCTTC	CPA5	ENSG00000158525.16	transcript	ENST00000474905.6	protein_coding		1644		chr7	TogoVar
CPNE7_chr16_89570758_89602246	89598547	A A	AGGCAGAG others(96): Show AGGCAGAGGGTGCGTGTCAGGGCCCTGTGCAGGTGTGGGGGGGTCTCAGG CTGGACAGAGGGTGAGTATCCGGGCCTTGTGCAGATCGGAGGTCTCAGGG GCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03579.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0025 a0001c0002t0002g0022 a0001c0002t0001g0025 a0001c0002t0002g0022	2	348	0.0058	103	c.19 others(114): Show c.1926_*1927insGGCAGAGGGTGCGTGTCAGGGCCCTGTGCAGGTG TGGGGGGGTCTCAGGCTGGACAGAGGGTGAGTATCCGGGCCTTGTGCAGA TCGGAGGTCTCAGGGGCTG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1302		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598814	G G	GTGAGTAT others(96): Show GTGAGTATCCGGGCCTTGTGCAGATCGGAGGTCTCAGGGGCTGGGCAGAG GGTGCGTGTCAGGGCCCTGTGCAGGTGTGGGGGGGTCTCAGGCTGGACAG AGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	348	0.0029	103	c.21 others(114): Show c.2193_*2194insTGAGTATCCGGGCCTTGTGCAGATCGGAGGTCTC AGGGGCTGGGCAGAGGGTGCGTGTCAGGGCCCTGTGCAGGTGTGGGGGGG TCTCAGGCTGGACAGAGGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1569		chr16	TogoVar
CPT1C_chr19_49686116_49718731	49702100	T T	TAAATATA others(96): Show TAAATATATCTATAAATATATAAACATATATAAATATATCTATTTATATA TATAAATATTTATATATAAATATATCTATAAATATATAAACATATATAAA TATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG02109.hp2 HG02965.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0002 a0003c0007t0002 a0001c0002t0002 a0003c0007t0002	a0001c0002t0002g0207 a0003c0007t0002g0208 a0001c0002t0002g0207 a0003c0007t0002g0208	2	350	0.0057	103	c.693 others(118): Show c.693+466_693+467insAAATATATCTATAAATATATAAACATATAT AAATATATCTATTTATATATATAAATATTTATATATAAATATATCTATAA ATATATAAACATATATAAATATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19			chr19	TogoVar
CRISP2_chr6_49687359_49718543	49701610	G G	GTATATGT others(96): Show GTATATGTATACATTATATATGTATACATTATATATGTATACATTATATA TGTATACATTATATATGTATACATTATATATGTATACATTATATATGTAT ACAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01070.hp1 HG01071.hp2 others(6): Show HG00423.hp1 HG01070.hp1 HG01071.hp2 NA18945.hp1 NA18948.hp2 NA18966.hp2 NA18974.hp1 NA19009.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0105 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0150 a0001c0001t0001g0151	9	410	0.0220	103	c.67- others(116): Show c.67-827_67-826insATGTATACATATATAATGTATACATATATAAT GTATACATATATAATGTATACATATATAATGTATACATATATAATGTATA CATATATAATGTATACATATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRISP2_chr6_49687359_49718543	49701618	A A	ATACATTA others(96): Show ATACATTATATATGTATACATTATATATGTATACATTATATATGTATACA TTATATATGTATACATTATATATGTATACATTATATATGTATACATTATA TATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01123.hp2 others(4): Show HG00741.hp1 HG01099.hp2 HG01123.hp2 HG02080.hp2 HG02683.hp2 HG02735.hp1 NA19068.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0006c0007t0002 a0001c0001t0001 a0001c0001t0002 a0006c0007t0002	a0001c0001t0001g0063 a0001c0001t0001g0242 a0001c0001t0001g0271 others(3): Show a0001c0001t0001g0063 a0001c0001t0001g0242 a0001c0001t0001g0271 a0001c0001t0002g0224 a0001c0001t0002g0269 a0006c0007t0002g0100	7	410	0.0171	103	c.67- others(116): Show c.67-835_67-834insCATATATAATGTATACATATATAATGTATACA TATATAATGTATACATATATAATGTATACATATATAATGTATACATATAT AATGTATACATATATAATGTA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CROCC2_chr2_240901336_240998311	240924256	C C	CCCCCACA others(96): Show CCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCG GCCCCCCCACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACC CAGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18951.hp1 NA18945.hp2 NA18951.hp1	a0007 a0010 a0007 a0010	a0007c0006 a0010c0009 a0007c0006 a0010c0009	a0007c0006t0003 a0010c0009t0002 a0007c0006t0003 a0010c0009t0002	a0007c0006t0003g0097 a0010c0009t0002g0290 a0007c0006t0003g0097 a0010c0009t0002g0290	2	350	0.0057	103	c.489 others(120): Show c.489-1459_489-1458insGACCCGGCCCCCACACTGACCCGGCCCC CACACTGACCCGGCCCCCCCACTAACCCGGCCCCCCACACTAACCCGGCC CCCACACTAACCCAGTCCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar

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