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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Samplehapid

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No_samplehapid

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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
ANO7_chr2_241183677_241230976	241218099	G G	GGGGCAGC others(166): Show GGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGCGCGCA GGGGCGGGGCGGGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGCAG CGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGG AGCGGGGGCGCGCAGGGGCGGAGC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0133 a0004c0005t0007g0133	1	396	0.0025	173	c.217 others(190): Show c.2179-137_2179-136insCAGCGGGGGCGCGCAGGGGCGGAGCGGG GGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGCGCGTAGG GGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGC GGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO7_chr2_241183677_241230976	241218100	G G	GGGCAGCG others(166): Show GGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGCGCGCAG GGGCGGGGCGGGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGCAGC GGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGGCGCGCAGGGGCGG AGCGGGGGCAGCGGGGGGCGCGCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0017 a0001c0008t0004g0017	1	396	0.0025	173	c.217 others(190): Show c.2179-137_2179-136insCAGCGGGGGCGCGCAGGGGCGGAGCGGG GGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGCGCGTAGG GGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGC GGGGGGCGCGCAGGGGCGGAGCGGGGGCAGCGGGGGGCGCGCAGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP3S2_chr15_89825599_89898994	89854900	G G	GGGGTTGG others(166): Show GGGGTTGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00609.hp2 others(40): Show HG00280.hp2 HG00323.hp2 HG00609.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01891.hp2 HG01975.hp1 HG02055.hp1 HG02071.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02698.hp2 HG02735.hp2 HG03209.hp1 HG03471.hp1 HG03490.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18942.hp1 NA18968.hp1 NA18975.hp1 NA18977.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA19056.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19081.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(40): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0142 a0001c0001t0010g0020 a0001c0001t0010g0028 a0001c0001t0010g0045 a0001c0001t0010g0052 a0001c0001t0011g0026 a0001c0001t0011g0031 a0001c0001t0022g0029 a0001c0001t0036g0053 a0001c0001t0038g0042 a0001c0001t0039g0064	43	312	0.1378	173	c.345 others(192): Show c.345+16574_345+16575insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCAACCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854901	G G	GGGGTTGG others(166): Show GGGGTTGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCC AGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0185 a0001c0001t0044g0185	1	312	0.0032	173	c.345 others(192): Show c.345+16573_345+16574insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCAACCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCGTGA others(166): Show CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCA TTTACAGCGAGCACTTCCCACCCCCGTGACCACACACCAGCAGTGAGCAC TTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCACCCCGTGACC ACACACTGGCGGTGAGCACTTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	246	0.0041	173	c.-20 others(184): Show c.-2049_-2048insTGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGG TGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTG CTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCA CGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGDIG_chr16_275591_288010	285937	C C	CCCCAACA others(166): Show CCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCCCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCC CGGTTCTCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG04228.hp1 HG02683.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	442	0.0045	173	c.31 others(184): Show c.3123_*3124insCCCAACACCAACCCCGCGGTTCTCCCAACCCCAA CCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGT TCTCCCAACCCCAACCCCCCGGTTCTCCCAACCCCGCGGTTCTCCCAACC CCAACCCCAACCCCCCGGTTCTCCCAACCCCGCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2928		chr16	TogoVar
ARHGDIG_chr16_275591_288010	285937	C C	CCCCAACA others(166): Show CCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCC CGGTTCTCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	442	0.0023	173	c.31 others(184): Show c.3123_*3124insCCCAACACCAACCCCGCGGTTCTCCCAACCCCAA CCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACC CCAACCCCAACCCCCCGGTTCTCCCAACCCCGCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2928		chr16	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCCCCTCC others(166): Show CCCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCGCTCCCCCTCCCCCCT CCCCCTCCCCCTCCCGCTCCCGCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	264	0.0038	173	c.102 others(190): Show c.1024+306_1024+307insCCCTCCCTCCCCCTCCCCCTCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGC TCCCGCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCGCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCACCC others(166): Show CTCCACCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCCC CCCTCCCCCTCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0263	1	264	0.0038	173	c.102 others(190): Show c.1024+318_1024+319insTCCACCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCTCCCCCTCCCCATCC CCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(166): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCCC CCCTCCCCCTCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG02071.hp1 others(7): Show HG00558.hp2 HG00621.hp1 HG02071.hp1 HG02738.hp2 HG03834.hp2 NA18973.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0001 a0002c0002t0007	a0002c0002t0001g0008 a0002c0002t0001g0024 a0002c0002t0001g0026 others(7): Show a0002c0002t0001g0008 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0107 a0002c0002t0001g0131 a0002c0002t0001g0135 a0002c0002t0007g0134	10	264	0.0379	173	c.102 others(190): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCTCCCCCTCCCCATCC CCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(166): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCCCTCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0067 a0001c0004t0001g0067	1	264	0.0038	173	c.102 others(190): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCG CCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ATF1_chr12_50759101_50826162	50823520	T T	TTTATATA others(166): Show TTTATATATTATATATATAATCTATATTATATATAATATAGATTATATAT ATAATATAGATTATATATATAATCTATATTATATATAATATAGATTATAT AATCTATATTATATATATAATCTATATTATATAATCTATATTATATATAT AATCTATATTATATATAATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	382	0.0026	173	c.37 others(184): Show c.3741_*3742insTTATATATTATATATATAATCTATATTATATATA ATATAGATTATATATATAATATAGATTATATATATAATCTATATTATATA TAATATAGATTATATAATCTATATTATATATATAATCTATATTATATAAT CTATATTATATATATAATCTATATTATATATAATATAGA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2359		chr12	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(166): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0280 a0002c0002t0003g0280	1	378	0.0027	173	c.960 others(190): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(166): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18967.hp1 HG01099.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0187 a0001c0001t0005g0194 a0001c0001t0001g0187 a0001c0001t0005g0194	2	378	0.0053	173	c.960 others(190): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP8B4_chr15_49853238_50124233	50085958	T T	TATATTTA others(166): Show TATATTTATATATGATATATATCATATATATTTATATATGATATATATCA TATATATTTATATATGATATATATCATATATATTTATATATGATATATAT CATATTTATATATGATATATATCATATTTATATATGATATATATCATATT TATATATGATATATCAAATATATC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0119 a0002c0002t0003g0119	1	254	0.0039	173	c.29- others(190): Show c.29-11774_29-11773insGATATATTTGATATATCATATATAAATA TGATATATATCATATATAAATATGATATATATCATATATAAATATGATAT ATATCATATATAAATATATATGATATATATCATATATAAATATATATGAT ATATATCATATATAAATATATATGATATATATCATATATAAATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
AXIN1_chr16_282440_357723	285937	C C	CCCCAACA others(166): Show CCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCCCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCC CGGTTCTCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG04228.hp2 HG02683.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0015 a0001c0001t0002g0016	2	378	0.0053	173	c.21 others(184): Show c.2184_*2185insAGAACCGCGGGGTTGGGAGAACCGGGGGGTTGGG GTTGGGGTTGGGAGAACCGCGGGGTTGGGAGAACCGGGGGGTTGGGGTTG GGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGGT TGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGTGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1502		chr16	TogoVar
AXIN1_chr16_282440_357723	285937	C C	CCCCAACA others(166): Show CCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCC CGGTTCTCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	378	0.0027	173	c.21 others(184): Show c.2184_*2185insAGAACCGCGGGGTTGGGAGAACCGGGGGGTTGGG GTTGGGGTTGGGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTG GGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGGT TGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGTGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1502		chr16	TogoVar
B4GALNT4_chr11_364499_387117	374715	G G	GGGAAGGG others(166): Show GGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGGAGGGGGAAGG GAGGGAGGAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	184	0.0054	173	c.784 others(188): Show c.784-687_784-686insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGG AGGGGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374843	A A	AGGGAGGA others(166): Show AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	184	0.0054	173	c.784 others(188): Show c.784-612_784-611insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(166): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0132 a0002c0007t0001g0132	1	184	0.0054	173	c.784 others(188): Show c.784-574_784-573insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375122	A A	AGGAAGGG others(166): Show AGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0010 a0001c0003t0004g0010	1	184	0.0054	173	c.784 others(188): Show c.784-325_784-324insTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375167	T T	TGGAAGGG others(166): Show TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG04115.hp1 HG01358.hp2 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0150 a0002c0002t0001g0137 a0002c0002t0001g0150	2	184	0.0109	173	c.784 others(188): Show c.784-265_784-264insTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCHE_chr3_165767904_165842423	165797268	T T	TCCTTCTT others(166): Show TCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCT TCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCC TCCTTCCTCCCTCCCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0224 a0001c0001t0006g0228 a0001c0001t0006g0224 a0001c0001t0006g0228	2	304	0.0066	173	c.151 others(194): Show c.1518-10958_1518-10957insGAGGGGGGAGGGAGGGAGGAAGGA GGGAGGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGA AGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGA AGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(166): Show GAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGG GAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGG AAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0248 a0001c0002t0001g0248	1	276	0.0036	173	c.490 others(192): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGA GGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAAGGCAGGGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
C18orf63_chr18_74310839_74364189	74361918	G G	GTATAATA others(166): Show GTATAATATAATTTGTAATTATATATTTACGTATAATATAATTTATAATT ATATATTTACGTATAATATAATTTATATTATATATGTATATAATATAATT TATGATTATATATTTATATATAATATAATTTATATTATATATGCATATAT AATATAATTTATAATATATGCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01993.hp2 HG02132.hp1 others(22): Show HG00408.hp1 HG01993.hp2 HG02132.hp1 HG02148.hp2 HG03225.hp2 NA18612.hp2 NA18952.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp1 NA18970.hp2 NA18978.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19081.hp1 NA19086.hp1	a0002 a0013 a0002 a0013	a0002c0003 a0013c0021 a0002c0003 a0013c0021	a0002c0003t0005 a0002c0003t0011 a0002c0003t0024 others(2): Show a0002c0003t0005 a0002c0003t0011 a0002c0003t0024 a0002c0003t0034 a0013c0021t0011	a0002c0003t0005g0003 a0002c0003t0005g0007 a0002c0003t0005g0010 others(13): Show a0002c0003t0005g0003 a0002c0003t0005g0007 a0002c0003t0005g0010 a0002c0003t0005g0040 a0002c0003t0005g0115 a0002c0003t0005g0116 a0002c0003t0005g0118 a0002c0003t0005g0119 a0002c0003t0005g0124 a0002c0003t0011g0003 a0002c0003t0011g0120 a0002c0003t0011g0122 a0002c0003t0011g0123 a0002c0003t0024g0003 a0002c0003t0034g0010 a0013c0021t0011g0003	25	372	0.0672	173	c.54 others(184): Show c.5471_*5472insTATAATATAATTTGTAATTATATATTTACGTATA ATATAATTTATAATTATATATTTACGTATAATATAATTTATATTATATAT GTATATAATATAATTTATGATTATATATTTATATATAATATAATTTATAT TATATATGCATATATAATATAATTTATAATATATGCATA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2730		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74361922	A A	AATATAAT others(166): Show AATATAATTTGTAATTATATATTTACATATAATATAATTTATAATTATAT ATTTACGTATAATATAATTTATATTATATATGTATATAATATAATTTATG ATTATATATTTATATATAATATAATTTATATTATATATGCATATATAATA TAATTTATAATATATGCATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0109 a0001c0001t0037g0109	1	372	0.0027	173	c.54 others(184): Show c.5475_*5476insATATAATTTGTAATTATATATTTACATATAATAT AATTTATAATTATATATTTACGTATAATATAATTTATATTATATATGTAT ATAATATAATTTATGATTATATATTTATATATAATATAATTTATATTATA TATGCATATATAATATAATTTATAATATATGCATATATT	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2734		chr18	TogoVar
C2CD6_chr2_201482421_201624178	201563076	C C	CTCCCAGT others(166): Show CTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0032 a0032	a0032c0037 a0032c0037	a0032c0037t0001 a0032c0037t0001	a0032c0037t0001g0265 a0032c0037t0001g0265	1	270	0.0037	173	c.977 others(190): Show c.977+2480_977+2652dupAGTGAGGAGCCCCTCTGCCCAGCCAGCC GCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15			chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539826	C C	CGCCCCTC others(166): Show CGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCCG CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03486.hp1 HG02486.hp1 HG03486.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0012 a0006c0005t0002g0013 a0006c0005t0002g0012 a0006c0005t0002g0013	2	326	0.0061	173	c.144 others(190): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C5AR1_chr19_47304861_47327066	47305966	A A	ATTTTTTT others(166): Show ATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA18963.hp1 HG02074.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0094 a0001c0001t0001g0008 a0001c0001t0001g0094	2	376	0.0053	173	c.-39 others(184): Show c.-3930_-3929insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT	C5AR1	ENSG00000197405.8	transcript	ENST00000355085.4	protein_coding		3894		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(166): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCT CTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTC TCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0082 a0002c0002t0033g0082	1	218	0.0046	173	c.573 others(192): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221234	C C	CTTTCTTT others(166): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTT TCTTTCTTTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTTCTTTCTTTC TTTCTTTCTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0007 a0003c0013t0007	a0003c0013t0007g0041 a0003c0013t0007g0041	1	218	0.0046	173	c.573 others(192): Show c.5731+3432_5731+3433insAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221234	C C	CTTTCTTT others(166): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTT TCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTTCTTTCTTTC TTTCTTTCTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp1 HG01255.hp2 others(3): Show HG00544.hp2 HG01070.hp1 HG01255.hp2 HG01496.hp1 NA18968.hp2 NA18998.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0010 a0041	a0001c0018 a0002c0002 a0002c0003 others(3): Show a0001c0018 a0002c0002 a0002c0003 a0007c0075 a0010c0053 a0041c0067	a0001c0018t0001 a0002c0002t0002 a0002c0003t0002 others(3): Show a0001c0018t0001 a0002c0002t0002 a0002c0003t0002 a0007c0075t0003 a0010c0053t0003 a0041c0067t0002	a0001c0018t0001g0056 a0002c0002t0002g0011 a0002c0003t0002g0053 others(3): Show a0001c0018t0001g0056 a0002c0002t0002g0011 a0002c0003t0002g0053 a0007c0075t0003g0190 a0010c0053t0003g0186 a0041c0067t0002g0172	6	218	0.0275	173	c.573 others(192): Show c.5731+3432_5731+3433insAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(166): Show GAAGGGGGAGGAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAATGGGAG GAAGGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAA GGGGGGGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGG GGAAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	234	0.0043	173	c.207 others(190): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTTCCCCTT CCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCCCCCCCCTTCC TCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCTTCCTCC CATTTCCTCCCCCTTCCTCCCACTTCCTCCCCCTTCCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(166): Show GAAGGGGGAGGAAGTGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGTGGGAGGAA GGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGAAGGAAGG GGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0031 a0001c0001t0019g0031	1	234	0.0043	173	c.207 others(190): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCCCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTC CCGCTTCCCCCCCTTCCTCCCATTTCCTCCCACTTCCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(166): Show GAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGG AAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAA GGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGAAGGAAGG GGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG03579.hp2 HG02486.hp2 HG02559.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0149 a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0001g0149 a0001c0001t0006g0006 a0001c0001t0006g0007	3	234	0.0128	173	c.207 others(190): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC CCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCC CCCTTCCTCCCATTTCCTCCCCCTTCCTCCCACTTCCTCCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(166): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0327 a0003c0003t0004g0327	1	328	0.0031	173	c.100 others(192): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CAPN15_chr16_522712_559636	544805	A A	ACGTCGCC others(166): Show ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCTCACATCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0239 a0001c0002t0002g0239	1	410	0.0024	173	c.-22 others(190): Show c.-22-2005_-22-2004insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCTCACATCGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(166): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAG AAGGAGAAGGAGAAGGAGAGGAAG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0353 a0002c0003t0001g0353	1	364	0.0028	173	c.234 others(190): Show c.234+6868_234+6869insCTTCCTCTCCTTCTCCTTCTCCTTCTTC CTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88894213	T T	TGCACGCA others(166): Show TGCACGCACACATGCACACACACATGCATACATATACACATGCACACAAT GTACACACATGCACACACACATGCACACACACATGCATACATATACACAT GCACACAATGTACACACATGCACGCACACATGCACACACACATGCATACA TATACACATGCACACAATGTACAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	284	0.0035	173	c.380 others(190): Show c.380-1729_380-1728insGTGTACATTGTGTGCATGTGTATATGTA TGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGT GTATATGTATGCATGTGTGTGTGCATGTGTGTGTGCATGTGTGTACATTG TGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88894213	T T	TGCACGCA others(166): Show TGCACGCACACATGCACACACACATGCATACATATACACATGCACACAAT GTACACACATGCATGCACACATGCACACACACATGCATACATATACACAT GCACACAATGTACACACATGCACGCACACATGCACACACACATGCATACA TATACACATGCACACAATGTACAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	284	0.0035	173	c.380 others(190): Show c.380-1729_380-1728insGTGTACATTGTGTGCATGTGTATATGTA TGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGT GTATATGTATGCATGTGTGTGTGCATGTGTGCATGCATGTGTGTACATTG TGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88894285	G G	GCACACAC others(166): Show GCACACACACATGCATACATATACACATGCACACAATGTACACACATGCA CGCACACATGCACACACACATGCATACATATACACATGCACACAATGTAC ACGCACGCACACATGCACACACACATGCATACATATACACATGCACACAA TGTACACACATGCACGCACACATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp2 HG01106.hp1 HG01261.hp2	a0001 a0005 a0001 a0005	a0001c0018 a0005c0012 a0001c0018 a0005c0012	a0001c0018t0001 a0005c0012t0001 a0001c0018t0001 a0005c0012t0001	a0001c0018t0001g0263 a0005c0012t0001g0121 a0001c0018t0001g0263 a0005c0012t0001g0121	2	284	0.0070	173	c.380 others(190): Show c.380-1801_380-1800insTATGTGTGCGTGCATGTGTGTACATTGT GTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCGTGTAC ATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCA TGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CCDC38_chr12_95862048_95947614	95908636	A A	AGAGGGAG others(166): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0277 a0001c0005t0002g0277	1	350	0.0029	173	c.305 others(190): Show c.305-2186_305-2185insCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTCCCC others(166): Show CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCC TCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCC CCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	410	0.0024	173	c.-22 others(184): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(166): Show CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCC TCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCC CCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0165 a0001c0009t0001g0165	1	410	0.0024	173	c.-22 others(184): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC61_chr19_45990467_46023616	46005096	C C	CGCCTCCC others(166): Show CGCCTCCCGATTTCAAGCAATTCTCCTATTTCAGCCTCCCGAGTAGCTGG AATTACAGGCATGCGCCATCATGCCCGGCTAATTTTTGTATTTATTTATT TATTTTTTTTGAGATACTATCTGTGTAGCCCAGGCTGGAGTGCAGTGGCA TGATATTGGCTCACTGCAACCTCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0109 a0002c0004t0001g0109	1	428	0.0023	173	c.232 others(190): Show c.232-1378_232-1377insTGTATTTATTTATTTATTTTTTTTGAGA TACTATCTGTGTAGCCCAGGCTGGAGTGCAGTGGCATGATATTGGCTCAC TGCAACCTCTGCCTCCCGATTTCAAGCAATTCTCCTATTTCAGCCTCCCG AGTAGCTGGAATTACAGGCATGCGCCATCATGCCCGGCTAATTTT	CCDC61	ENSG00000104983.8	transcript	ENST00000595358.5	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCZ1B_chr7_6793937_6831275	6797864	A A	ATACACAC others(166): Show ATACACACACACATATATATATACACACATATATATATACACACATATAT ATATACACACATATATATATACACACATATATATACACACATATATATAC ACACATATATATATACACACATATATACACACACACACATATATATATAC ACACACACACACATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0032 a0003c0004t0006g0033 a0003c0004t0006g0032 a0003c0004t0006g0033	2	354	0.0057	173	c.13 others(184): Show c.1359_*1360insGTGTGTATATATGTGTGTGTGTGTGTATATATAT ATGTGTGTGTGTGTATATATGTGTGTATATATATATGTGTGTATATATAT GTGTGTATATATATGTGTGTATATATATATGTGTGTATATATATATGTGT GTATATATATATGTGTGTATATATATATGTGTGTGTGTA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1072		chr7	TogoVar
CD247_chr1_167425640_167523529	167435206	T T	TTCCTCCA others(166): Show TTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTTCCTCCGGAGCCC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	374	0.0027	173	c.336 others(188): Show c.336+192_336+193insGGGCTCCGGAGGAAGGGCTGGAGGAAGGGC TGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC CGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCT GGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDH13_chr16_82621969_83805640	83658616	G G	GTCCTCAC others(166): Show GTCCTCACCAGCAAGGTCCCATATGCTCACCAGCAAGGTCTCATGTCCTC GCCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATGTCCTCACCACCA GGTCCCGTATCCTCACCAGCAAGGTCTCATGTCCTCACCACCAGGTCCCG TATCCTCAGCAGCAAGGTCCCATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02451.hp1 HG01433.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0087 a0001c0002t0001g0011 a0001c0001t0001g0087 a0001c0002t0001g0011	2	110	0.0182	173	c.110 others(194): Show c.1102-12157_1102-12156insCCATATGCTCACCAGCAAGGTCTC ATGTCCTCGCCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATGTCCT CACCACCAGGTCCCGTATCCTCACCAGCAAGGTCTCATGTCCTCACCACC AGGTCCCGTATCCTCAGCAGCAAGGTCCCATATCCTCACCAGCAAGGTC	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CEMIP2_chr9_71678366_71773513	71752481	G G	GGGGAGGG others(166): Show GGGGAGGGTAGGGGGAGGAGAGGGGGAGGGAGGGGGAGGGGAGGGGAGGG GAGGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGGAGAGAGGGAGAGAAGG AAGTAAGGAAGTTAGGAGGGAAGGGAGGAAGGAAGGAGGGAAGGGAGGAA GGAGGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0010 a0004c0003t0010	a0004c0003t0010g0209 a0004c0003t0010g0209	1	320	0.0031	173	c.-12 others(190): Show c.-12-2097_-12-2096insTTCCTTGCTTCCTTCCCTCCCTCCTTCC TCCCTTCCCTCCTTCCTTCCTCCCTTCCCTCCTAACTTCCTTACTTCCTT CTCTCCCTCTCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCTCCCCCTCTCCTCCCCCTACCCTCCC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71752481	G G	GGGGAGGG others(166): Show GGGGAGGGTAGGGGGAGGAGAGGGGGAGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGGAGAGAGGGAGAGAAGG AAGTAAGGAAGTTAGGAGGGAAGGGAGGAAGGAAGGAGGGAAGGGAGGAA GGAGGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	320	0.0031	173	c.-12 others(190): Show c.-12-2097_-12-2096insTTCCTTGCTTCCTTCCCTCCCTCCTTCC TCCCTTCCCTCCTTCCTTCCTCCCTTCCCTCCTAACTTCCTTACTTCCTT CTCTCCCTCTCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCTCCCCCTCTCCTCCCCCTACCCTCCC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar

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