JoGo: Joint Open Genome and Omics Platform

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
CALY_chr10_133319072_133341896	133334355	G G	GGGGGAAG others(307): Show GGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAGGATCTGAGGGG GGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGAAGCTCTGAGGGGGGAA GGATCTGAGCGGGGAAGGCTCTGAGGGGGGGAAGGCTCTGAAGGGGAGGC TCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTGAAAGGCGAAGGATCT GAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGA GGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAGGATCTGAGCG GGGAAGGCTCTGAGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0164 a0001c0001t0014g0164	1	250	0.0040	314	c.-21 others(331): Show c.-21+2478_-21+2479insACTCAGAGCCTTCCCCGCTCAGATCCTT CGCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCC CCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCCTCAGATCCTTCGCCT TTCAGATCCTTCTCCCTCATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAG AGCCTTCCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCCTCAGA GCTTCCCCTTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGATCCT TCGCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12415208	T T	TAAAAACA others(307): Show TAAAAACAAAGTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG01069.hp1 others(23): Show HG00099.hp1 HG00558.hp2 HG01069.hp1 HG01167.hp1 HG01168.hp1 HG01258.hp1 HG01884.hp2 HG01981.hp1 HG02074.hp1 HG02083.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02698.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03579.hp2 NA18948.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18971.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0022 a0001c0001t0026 a0001c0001t0035 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0062 a0001c0001t0070 a0001c0001t0079 a0001c0001t0089 a0001c0001t0090 a0001c0001t0097 a0001c0002t0004 a0001c0002t0025 a0001c0002t0055 a0001c0003t0022	a0001c0001t0001g0016 a0001c0001t0002g0193 a0001c0001t0003g0012 others(23): Show a0001c0001t0001g0016 a0001c0001t0002g0193 a0001c0001t0003g0012 a0001c0001t0003g0045 a0001c0001t0006g0073 a0001c0001t0006g0152 a0001c0001t0006g0187 a0001c0001t0007g0078 a0001c0001t0014g0147 a0001c0001t0022g0070 a0001c0001t0026g0143 a0001c0001t0035g0145 a0001c0001t0038g0175 a0001c0001t0042g0085 a0001c0001t0043g0026 a0001c0001t0046g0074 a0001c0001t0062g0144 a0001c0001t0070g0123 a0001c0001t0079g0151 a0001c0001t0089g0035 a0001c0001t0090g0115 a0001c0001t0097g0065 a0001c0002t0004g0208 a0001c0002t0025g0029 a0001c0002t0055g0207 a0001c0003t0022g0024	26	214	0.1215	314	c.92+ others(331): Show c.92+65310_92+65311insGGCTGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44296832	C C	CAAAAATA others(307): Show CAAAAATAAGAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0081 a0002c0009t0010g0081	1	242	0.0041	314	c.66- others(331): Show c.66-12608_66-12607insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGTTTCTTATTTTT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/23			chr7	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(307): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGGGGGT CGGCCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	198	0.0051	314	c.377 others(335): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44598696	T T	TAAAATCA others(307): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02451.hp1 others(5): Show HG01884.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02630.hp2 HG02970.hp1 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0163 others(5): Show a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0003g0169 a0001c0001t0006g0160	8	198	0.0404	314	c.377 others(335): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAATCAGAAGTCCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN15_chr16_522712_559636	544701	A A	ACGTCGCC others(307): Show ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0025 a0025	a0025c0076 a0025c0076	a0025c0076t0003 a0025c0076t0003	a0025c0076t0003g0288 a0025c0076t0003g0288	1	410	0.0024	314	c.-22 others(331): Show c.-22-2109_-22-2108insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(307): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGG GAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGG GGAGGGAGAGAGGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGGAG AAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0172 a0002c0001t0004g0172	1	276	0.0036	314	c.286 others(331): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCCTCTCTCCCTCCCCCCTCCTTCTCC CTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTCCT CTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTCTC TCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCCCC AGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCCCT CTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(307): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGGGGGAGGGGAGGA GACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGGGA GGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGAGA AGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGAGGGA GGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGGGG GAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGGGAG AAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG04115.hp2 homoSapiens_chm13v2.hp1 HG01258.hp2 HG04115.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0180 a0001c0002t0002g0186 a0001c0002t0002g0177 a0001c0002t0002g0180 a0001c0002t0002g0186	3	276	0.0109	314	c.286 others(331): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(307): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	271	0.0037	314	c.143 others(333): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTTTTTTGAGATGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(307): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG00738.hp1 others(37): Show HG00438.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01192.hp1 HG01891.hp2 HG02004.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02280.hp1 HG02622.hp1 HG02647.hp1 HG02818.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03927.hp1 HG06807.hp2 NA18950.hp1 NA18972.hp2 NA18974.hp2 NA18988.hp2 NA18990.hp2 NA19012.hp1 NA19043.hp2 NA19079.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 others(37): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0002g0233 a0001c0001t0002g0266 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0067 a0001c0002t0002g0103 a0001c0002t0002g0110 a0001c0002t0002g0120 a0001c0002t0002g0128 a0001c0002t0002g0132 a0001c0002t0002g0162 a0001c0002t0002g0195 a0002c0003t0001g0144 a0002c0003t0001g0148 a0002c0003t0001g0150 a0002c0003t0002g0151	40	271	0.1476	314	c.143 others(333): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(307): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0260 a0001c0002t0002g0260	1	271	0.0037	314	c.143 others(333): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(307): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01169.hp1 HG02015.hp2 others(1): Show HG01074.hp2 HG01169.hp1 HG02015.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0092 a0001c0001t0001g0229 a0001c0002t0002g0135 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0229 a0001c0002t0002g0135 a0001c0002t0002g0187	4	271	0.0148	314	c.143 others(333): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCAATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91658709	T T	TAAAAAAA others(307): Show TAAAAAAAGGAAGGGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0165 a0001c0002t0002g0165	1	271	0.0037	314	c.143 others(333): Show c.1432+1127_1432+1128insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCAATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCATGAGCCACCGCGCCCGGCCTCCCTTCCTTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CBFA2T2_chr20_33485096_33655030	33492433	T T	TCCAAATT others(307): Show TCCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp2 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0029 a0001c0001t0004g0030	2	298	0.0067	314	c.34+ others(329): Show c.34+2145_34+2146insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCCAAATTTCTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CCBE1_chr18_59425939_59702423	59482875	T T	TAAATTAC others(307): Show TAAATTACCGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp2 others(11): Show HG00099.hp1 HG00280.hp1 HG00544.hp2 HG01069.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG03490.hp1 HG03927.hp2 NA18968.hp2 NA18994.hp2 NA19065.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0032 a0001c0001t0052	a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0064 others(11): Show a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0115 a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0242 a0001c0001t0004g0119 a0001c0001t0004g0134 a0001c0001t0005g0198 a0001c0001t0015g0085 a0001c0001t0032g0053 a0001c0001t0052g0201	14	242	0.0579	314	c.213 others(331): Show c.213-2638_213-2637insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAACGGTAATTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC126_chr7_23592382_23649708	23626050	T T	TAAAATTT others(307): Show TAAAATTTTATGTAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02615.hp2 HG04184.hp1 HG01168.hp2 HG02615.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0342 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0342	3	380	0.0079	314	c.238 others(333): Show c.238+14513_238+14514insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAATTTTATGTAGTA	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC146_chr7_77117615_77300204	77229765	T T	TTACACAG others(307): Show TTACACAGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0204 a0001c0007t0001g0204	1	248	0.0040	314	c.157 others(331): Show c.157-7169_157-7168insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTACACAGAAAATT	CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(307): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	442	0.0023	314	c.27 others(325): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(307): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0012 a0002c0002t0008g0012	1	442	0.0023	314	c.27 others(325): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(307): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACACATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATA CGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 NA18983.hp2 HG02602.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0075 a0002c0002t0002g0007 a0002c0002t0002g0075	2	442	0.0045	314	c.27 others(325): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACAT ATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(307): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA19062.hp1 NA18957.hp2 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0003 a0002c0002t0002g0007	2	442	0.0045	314	c.27 others(325): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(307): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	442	0.0023	314	c.27 others(325): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CDH13_chr16_82621969_83805640	82878503	G G	GGAAAGAA others(307): Show GGAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGCTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCTGCCA CTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp1 HG02630.hp1 others(4): Show HG00438.hp1 HG01255.hp1 HG02630.hp1 HG02965.hp1 HG03239.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0002t0001 a0001c0002t0022 a0001c0003t0011 a0001c0008t0015	a0001c0001t0001g0095 a0001c0001t0003g0042 a0001c0001t0023g0021 others(4): Show a0001c0001t0001g0095 a0001c0001t0003g0042 a0001c0001t0023g0021 a0001c0002t0001g0098 a0001c0002t0022g0031 a0001c0003t0011g0073 a0001c0008t0015g0048	7	110	0.0636	314	c.157 others(333): Show c.157+20037_157+20038insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGCTGAAACCTCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCTGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61446555	T T	TAAAAAGT others(307): Show TAAAAAGTTGGGTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0027 a0001c0010t0001g0027	1	106	0.0094	314	c.169 others(335): Show c.169+191633_169+191634insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTTGGGTTGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDHR1_chr10_84189537_84223694	84223487	G G	GTTAATTG others(307): Show GTTAATTGGGTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0002 a0001c0023t0002	a0001c0023t0002g0062 a0001c0023t0002g0062	1	388	0.0026	314	c.88 others(325): Show c.8866_*8867insTTAATTGGGTATTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCC	CDHR1	ENSG00000148600.15	transcript	ENST00000623527.4	protein_coding		4794		chr10	TogoVar
CDK19_chr6_110604978_110820469	110670219	T T	TAAAATTT others(307): Show TAAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02897.hp1 others(2): Show HG02615.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0087 a0001c0001t0012g0088 a0001c0001t0012g0089 others(2): Show a0001c0001t0012g0087 a0001c0001t0012g0088 a0001c0001t0012g0089 a0001c0001t0012g0090 a0001c0001t0012g0091	5	300	0.0167	314	c.315 others(329): Show c.315+211_315+212insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	3/12			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(307): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGTAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0122 a0001c0002t0013g0122	1	196	0.0051	314	c.742 others(333): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPJ_chr13_24877279_24927861	24881896	C C	CTATATAG others(307): Show CTATATAGATATATAATCTATATAGATATATAATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	440	0.0023	314	c.12 others(325): Show c.1280_*1281insTAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATA TAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATT ATATATCTATATAGATTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		382		chr13	TogoVar
CEP44_chr4_174278911_174325328	174290428	T T	TAAATTTG others(307): Show TAAATTTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCTGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01168.hp1 others(4): Show HG00280.hp1 HG00741.hp2 HG01168.hp1 HG01361.hp1 HG01433.hp1 HG04184.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0015 a0002c0002t0003g0182 a0002c0002t0003g0183 others(2): Show a0002c0002t0003g0015 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0185	7	388	0.0180	314	c.-14 others(333): Show c.-148+6494_-148+6495insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGT GAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGTT	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP46_chr10_132803392_132947570	132917895	G G	GGACGCAC others(307): Show GGACGCACCTCAGCACCGATGAACCCCCCCTCCATGACGCACCTCAGCAC CGATGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCCCTC TCCACGACGCACCTCAGCACCGATGAAACCCCCTCTCCACGACGCACCTC AGCACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACCC CCCTCTCCACGACGCACCTCAGCACCGATGAACCCCCCTCTCCACGACGC ACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACCGATG AACCCCCCTCTCCAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0074 a0074	a0074c0109 a0074c0109	a0074c0109t0002 a0074c0109t0002	a0074c0109t0002g0104 a0074c0109t0002g0104	1	246	0.0041	314	c.198 others(331): Show c.1986+497_1986+498insGTGGAGAGGGGGGTTCATCGGTGCTGAG GTGCGTCGTGGAGAGGGGGGTTCATCGGTGCTGAGGTGCGTCGTGGAGAG GGGGGTTCATCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCATCGGTG CTGAGGTGCGTCGTGGAGAGGGGGGTTCATCGGTGCTGAGGTGCGTCGTG GAGAGGGGGTTTCATCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCAT CGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCATCGGTGCTGAGGTGCG TCATGGAGGGGGGGTTCATCGGTGCTGAGGTGCGTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CFAP90_chr5_7825378_7856133	7845926	T T	TGACACTC others(307): Show TGACACTCACATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGAGGTTTCACAGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG03098.hp1 others(5): Show HG02145.hp1 HG02572.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 NA18950.hp1 NA19004.hp1 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0005t0006 a0003c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0002g0084 others(4): Show a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0002g0084 a0001c0001t0010g0082 a0001c0005t0006g0147 a0001c0005t0006g0148 a0003c0003t0001g0083	8	420	0.0191	314	c.147 others(331): Show c.147+4948_147+4949insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACTGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAATGTGAGTGTC	CFAP90	ENSG00000215217.7	transcript	ENST00000399810.7	protein_coding	1/2			chr5	TogoVar
CHRM3_chr1_239381568_239920450	239616845	T T	TAAAAATA others(307): Show TAAAAATATTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0101 a0001c0001t0016g0101	1	116	0.0086	314	c.-31 others(335): Show c.-312-15367_-312-15366insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATATTCCA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(307): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCGCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0003 a0007c0012t0003	a0007c0012t0003g0267 a0007c0012t0003g0267	1	428	0.0023	314	c.217 others(331): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCGCCCCGCCCCGCCCCGCCCCTCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMC2_chr16_80961448_81011885	80963378	T T	TGAAAGGA others(307): Show TGAAAGGATGCCCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAACATT AGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG02486.hp2 others(6): Show HG01243.hp1 HG01433.hp2 HG02486.hp2 HG02647.hp1 HG02886.hp2 HG02965.hp2 HG03540.hp1 NA18906.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0121 a0001c0001t0124 a0001c0001t0170 others(6): Show a0001c0001t0121 a0001c0001t0124 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0002c0002t0062 a0002c0002t0063 a0002c0002t0160	a0001c0001t0121g0241 a0001c0001t0124g0256 a0001c0001t0170g0311 others(6): Show a0001c0001t0121g0241 a0001c0001t0124g0256 a0001c0001t0170g0311 a0001c0001t0171g0312 a0001c0001t0172g0313 a0001c0001t0173g0314 a0002c0002t0062g0164 a0002c0002t0063g0163 a0002c0002t0160g0103	9	408	0.0221	314	c.12 others(327): Show c.12714_*12715insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCACCCGCTACCACGCCCGGCTAATGTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAAAGGGCATCCTTTC	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		3069		chr16	TogoVar
CNTN1_chr12_40687439_41077415	40704052	T T	TAAAGAAA others(307): Show TAAAGAAATATGGTATAGTATAGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCAGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCC ACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	230	0.0044	314	c.-77 others(333): Show c.-77+11481_-77+11482insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCAGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCG CCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAGAAATATGGTATAGTATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
COL3A1_chr2_188969373_189017746	188989139	T T	TAATATTC others(307): Show TAATATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG03098.hp1 others(1): Show HG02109.hp1 HG02630.hp2 HG03098.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0006g0113	4	376	0.0106	314	c.637 others(329): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAATATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	188989139	T T	TAATATTC others(307): Show TAATATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp2 HG02257.hp1 others(4): Show HG01081.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02976.hp1 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0001t0001 a0001c0001t0002 a0001c0007t0001	a0001c0001t0001g0013 a0001c0001t0002g0084 a0001c0001t0002g0085 others(3): Show a0001c0001t0001g0013 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0127 a0001c0007t0001g0082 a0001c0007t0001g0083	7	376	0.0186	314	c.637 others(329): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAATATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	188989141	A A	ATATTCCT others(307): Show ATATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0116 a0001c0001t0009g0116	1	376	0.0027	314	c.637 others(329): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAGTATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	188989142	T T	TATTCCTA others(307): Show TATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01891.hp2 HG02145.hp1 others(6): Show HG00423.hp1 HG01891.hp2 HG02145.hp1 HG02572.hp2 HG02630.hp1 HG03195.hp2 HG03579.hp2 NA18522.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0006t0003	a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0124 others(6): Show a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0124 a0001c0001t0003g0089 a0001c0001t0003g0216 a0001c0001t0003g0311 a0001c0001t0006g0046 a0001c0006t0003g0088 a0001c0006t0003g0090	9	376	0.0239	314	c.637 others(329): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227158761	T T	TCTGGGAT others(307): Show TCTGGGATACTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCCAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTTGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0051 a0004c0051	a0004c0051t0005 a0004c0051t0005	a0004c0051t0005g0023 a0004c0051t0005g0023	1	284	0.0035	314	c.-10 others(333): Show c.-102+5245_-102+5246insTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCAAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTGGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAGAAGTATCCCAG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	1/47			chr2	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(307): Show AGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGGCTGGGCTCCGGCGGGAGG GAGGGGCTGGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGC TGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0066 a0001c0007t0002g0066	1	412	0.0024	314	c.630 others(329): Show c.630+131_630+132insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGG GCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COPB1_chr11_14452512_14504811	14478464	T T	TTTTTTTT others(307): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTGCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19004.hp1 NA18950.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0285 a0001c0001t0001g0286	2	386	0.0052	314	c.135 others(333): Show c.1358+1104_1358+1105insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	11/21			chr11	TogoVar
COX10_chr17_14064504_14213677	14185282	T T	TGGTTTTT others(307): Show TGGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGC CACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0313 a0001c0001t0011g0313	1	322	0.0031	314	c.696 others(331): Show c.696-6692_696-6691insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCGGTTTTTGTTTTTTT	COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CPB2_chr13_46048186_46110033	46073597	T T	TCAATGTA others(307): Show TCAATGTACTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTCACTGCAAGCT CCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGGCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0058 a0002c0002t0002g0058	1	330	0.0030	314	c.591 others(329): Show c.591+275_591+276insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGAAATAGTACATTG	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	6/10			chr13	TogoVar
CPED1_chr7_120983711_121302442	121047646	T T	TTTCTTCT others(307): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCTTC CTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0054 a0001c0008t0001g0054	1	140	0.0071	314	c.540 others(329): Show c.540+714_540+715insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCT TCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRTC3_chr15_90524923_90650345	90643637	T T	TAAAATAG others(307): Show TAAAATAGATGGGCCAGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02723.hp2 others(1): Show HG02109.hp1 HG02258.hp1 HG02723.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0050 a0001c0001t0006g0051 others(1): Show a0001c0001t0006g0047 a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0006g0260	4	276	0.0145	314	c.15 others(325): Show c.1513_*1514insGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAATAGATGGGCCAG	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	15/15	1514	INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	3411683	T T	TATATATA others(307): Show TATATATACACATATATATACATATATACACGTGTATATATACACGTGTA TATACGTGTGTATATATACGTATATATACGTGTGTATATATACGTATATA TATACGTGTGTATATATACGTATATATATACGTGTGTATATATACGTATA TATATACGTGTGTATATATACGTATATATATACGTGTGTATATATACGTA TATATATACGTGTGTATATATACGTATATATATACGTGTGTATATATACG TATATATATACGTGTGCATATATATATACGTATATATATATACGTGTATG TATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0070 a0001c0005t0007g0070	1	126	0.0079	314	c.156 others(333): Show c.1562-2079_1562-2078insGTATATATACGTATACATACACGTAT ATATATATACGTATATATATATGCACACGTATATATATACGTATATATAC ACACGTATATATATACGTATATATACACACGTATATATATACGTATATAT ACACACGTATATATATACGTATATATACACACGTATATATATACGTATAT ATACACACGTATATATATACGTATATATACACACGTATATATATACGTAT ATATACACACGTATATATACGTATATATACACACGTATATACACGTGTAT ATATACACGTGTATATATGTATATATATGTGTATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CTDP1_chr18_79674803_79759503	79685046	T T	TGCGGTGC others(307): Show TGCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGG GACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCTCCTTACGGGGTG TGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGG TTTCTCTGCGGTGCTCCTTACGGGGTGTGAGGTCCTGGTGAGGAGGACGG TGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTAC AGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGATGCCTCGTGGTCTCT ACTCCCGGTTTCTCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02615.hp1 HG02723.hp2 HG01106.hp1 HG02615.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0007 a0001c0021t0007 a0001c0001t0007 a0001c0021t0007	a0001c0001t0007g0342 a0001c0001t0007g0343 a0001c0021t0007g0341 a0001c0001t0007g0342 a0001c0001t0007g0343 a0001c0021t0007g0341	3	378	0.0079	314	c.314 others(331): Show c.314+4792_314+4793insCCCTTACAGGGTGTGAGGTCCTGGTGAG GAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTG CTCCTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTG GTCTCTACTCCCGGTTTCTCTGCGGTGCTCCTTACGGGGTGTGAGGTCCT GGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCT GCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGAT GCCTCGTGGTCTCTACTCCCGGTTTCTCCGCGGTGC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA3_chr10_65907523_67701195	66457640	T T	TAAAAAAA others(307): Show TAAAAAAAAAAAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCATTGCAGTCCGTAGTCCGGCCTGGGCAACAGAGCGAGACTCCGT CTCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0007 a0001c0001t0006g0008	2	46	0.0435	314	c.153 others(335): Show c.1531+62976_1531+62977insTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTTGCCCAGGCCGGACTACGGACTGCAATGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAACTTTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66484231	T T	TATTTCAG others(307): Show TATTTCAGTTTATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAT TAGCCGGGCGTAGTGGCGGACGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGACAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp1 HG02818.hp2 others(5): Show HG02280.hp1 HG02717.hp1 HG02818.hp2 HG02896.hp1 HG03130.hp1 HG03195.hp1 HG03540.hp2 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0004t0007 a0001c0007t0015 a0001c0011t0009 a0004c0008t0005	a0001c0001t0001g0006 a0001c0001t0002g0009 a0001c0001t0002g0024 others(5): Show a0001c0001t0001g0006 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0006g0027 a0001c0004t0007g0005 a0001c0007t0015g0016 a0001c0011t0009g0017 a0004c0008t0005g0033	8	46	0.1739	314	c.153 others(335): Show c.1531+36385_1531+36386insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGTCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGTCCGCCACTACGCCCGGCTAATTTTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCATAAACTGAAAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar

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Search Results (Total: 10000 hits)