Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(311): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCC CCTACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACC CCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	254	0.0039	318	c.39+ others(335): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCC ACCCCCACCCACCTCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCT CCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACC CCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCTACC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(311): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCCACCCCCC ACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCT CCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCC CCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCA CCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCC ACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0236 a0002c0003t0001g0236	1	254	0.0039	318	c.39+ others(335): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCT CCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCC ACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112766784	A A	AGGAGGAT others(311): Show AGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGT GGGGGCGTTGGGGGCCACTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTG GGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGT GGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGG GGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGG GAGTGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTGTTGGG GGCCACTGTGGGAAGGTGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0142 a0001c0001t0019g0142	1	254	0.0039	318	c.40- others(335): Show c.40-18337_40-18336insTGTTGGGGGCCCCTGTGGGAAGGTGGGG AGGATGTGGGGGCGTTGGGGGCCACTGTGGGAAGGTGGGGAGGATGTGGG GGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGG CCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCTGTGGA AAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAG GGTGTGGGAGTGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGG TGTTGGGGGCCACTGTGGGAAGGTGGGGAGGATGTGGGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718241	T T	TGGATGTC others(311): Show TGGATGTCTGCGGAGGGAGACGTCCAGGAAGGAAGGGGGGAATGCAGTCA CGTATGTCTGTGGAGGGAGACGTCCAGGAAGGAAGGGGGGGCGTGCAGTC ACGGATGTCTGCGGAGGGAGACATCCAGGAAGGAATGGGGGGGATGGCGG GGAGGGTGCAGTCACGGAGGTCTGCGGAGGGAGACGTCCAGGAAGGAATG GGGCGGGTGGTGCAGTCACCGATGTCTGCGGAGGGAGACATCCGGAGAGG CATGGGGAGGAATGGGGAGGAATGGGGAGGAATGGGGAGGAATGGGGAGG AATGGGGAGGTGCCGCCAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0354 a0003c0004t0002g0354	1	376	0.0027	318	c.214 others(337): Show c.2140-2361_2140-2360insGTGGCGGCACCTCCCCATTCCTCCCC ATTCCTCCCCATTCCTCCCCATTCCTCCCCATTCCTCCCCATGCCTCTCC GGATGTCTCCCTCCGCAGACATCGGTGACTGCACCACCCGCCCCATTCCT TCCTGGACGTCTCCCTCCGCAGACCTCCGTGACTGCACCCTCCCCGCCAT CCCCCCCATTCCTTCCTGGATGTCTCCCTCCGCAGACATCCGTGACTGCA CGCCCCCCCTTCCTTCCTGGACGTCTCCCTCCACAGACATACGTGACTGC ATTCCCCCCTTCCTTCCTGGACGTCTCCCTCCGCAGACATCC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP8B4_chr15_49853238_50124233	50085958	T T	TTTATATA others(311): Show TTTATATATGATATATATCATATTTATATATGATATATATCATATATATT TATATATGATATATATCATATATATTTATATATGATATATATCATATATA AATATGATATATATCATATATAAATATATATGATATATATCATATATAAA TATATATGATATATATCATATATAAATATATATGATATATATCATATATA AATATATATGATATATATCATATATAAATATATATGATATATATCATATA TAAATATATATGATATATATCATATATAAATATATATGATATATATCATA TTTATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	254	0.0039	318	c.29- others(335): Show c.29-11774_29-11773insGATATATATCATATATAAATATGATATA TATCATATATATTTATATATGATATATATCATATATATTTATATATGATA TATATCATATATATTTATATATGATATATATCATATATATTTATATATGA TATATATCATATATATTTATATATGATATATATCATATATATTTATATAT GATATATATCATATATATTTATATATGATATATATCATATTTATATATGA TATATATCATATATAAATATATATGATATATATCATATATAAATATATAT GATATATATCATATATAAATATGATATATATCATATATAA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATXN1L_chr16_71840976_71862328	71841979	T T	TTCTTTTT others(311): Show TTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	418	0.0024	318	c.-43 others(329): Show c.-4305_-4304insTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	ATXN1L	ENSG00000224470.9	transcript	ENST00000427980.7	protein_coding		3996		chr16	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(311): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTC CACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCCGCA GCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	391	0.0026	318	c.36 others(329): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCC GACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCG GCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
BBS9_chr7_33124564_33611069	33143869	T T	TGTGTATC others(311): Show TGTGTATCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA19070.hp2 HG01517.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0004 a0001c0001t0003 a0002c0002t0004	a0001c0001t0003g0009 a0002c0002t0004g0008 a0001c0001t0003g0009 a0002c0002t0004g0008	2	268	0.0075	318	c.-11 others(335): Show c.-11-2360_-11-2359insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGTGTATCTTCTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(311): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	364	0.0028	318	c.723 others(335): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTTTTTTTTTTGAGA TGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGCATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(311): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG01069.hp2 others(22): Show HG00099.hp1 HG00597.hp1 HG01069.hp2 HG01123.hp1 HG02040.hp1 HG02080.hp1 HG02132.hp2 HG02273.hp2 HG02683.hp1 HG02698.hp2 HG03041.hp2 HG04228.hp2 NA18946.hp2 NA18947.hp2 NA18960.hp1 NA18960.hp2 NA18970.hp2 NA18986.hp1 NA18990.hp2 NA19003.hp2 NA19060.hp2 NA19083.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp2	a0002 a0004 a0006 others(3): Show a0002 a0004 a0006 a0013 a0016 a0033	a0002c0002 a0004c0004 a0006c0006 others(3): Show a0002c0002 a0004c0004 a0006c0006 a0013c0013 a0016c0019 a0033c0044	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(11): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 a0004c0004t0016 a0004c0004t0019 a0004c0004t0038 a0004c0004t0065 a0006c0006t0026 a0013c0013t0004 a0016c0019t0025 a0033c0044t0003	a0002c0002t0001g0100 a0002c0002t0002g0194 a0002c0002t0002g0304 others(22): Show a0002c0002t0001g0100 a0002c0002t0002g0194 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0006g0269 a0004c0004t0001g0184 a0004c0004t0003g0080 a0004c0004t0003g0087 a0004c0004t0003g0090 a0004c0004t0003g0105 a0004c0004t0003g0109 a0004c0004t0003g0136 a0004c0004t0003g0157 a0004c0004t0003g0158 a0004c0004t0003g0160 a0004c0004t0006g0196 a0004c0004t0016g0293 a0004c0004t0019g0192 a0004c0004t0019g0353 a0004c0004t0038g0159 a0004c0004t0065g0106 a0006c0006t0026g0064 a0013c0013t0004g0339 a0016c0019t0025g0089 a0033c0044t0003g0164	25	364	0.0687	318	c.723 others(335): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGCATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(311): Show TAAAAAAAAAGTATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0195 a0002c0002t0019g0195	1	364	0.0028	318	c.723 others(335): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGCATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCATACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BECN1_chr17_42805134_42829282	42816808	T T	TAAAAAAA others(311): Show TAAAAAAATAAAATTAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTCTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAATAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	274	0.0037	318	c.684 others(333): Show c.684-755_684-754insTTTTTATTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTGCTAATTTTATTTTTTT	BECN1	ENSG00000126581.13	transcript	ENST00000590099.6	protein_coding	7/11			chr17	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(311): Show ATATATTTATAATAAATATATATTATATATTTATAATAAATATATATTAT ATATTTATTATAAATATATAATATATATTTATTATAAATATAATATATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATTATAT ATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTAT AATAAATATTATATATTATATATTATATTTATAATAAATATTATATATTA TATATTATATTTATAATAAATATTATATATTATATATTATATTTATAATA AATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0150 a0001c0002t0007g0150	1	290	0.0035	318	c.426 others(337): Show c.426+35676_426+35677insATATTATATATTTATAATAAATATAT ATTATATATTTATTATAAATATATAATATATATTTATTATAAATATAATA TATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATAT TATATATTATATATTATATTTATAATAAATATTATATATTATATATTATA TTTATAATAAATATTATATATTATATATTATATTTATAATAAATATTATA TATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTA TAATAAATATTATATATTATATATTATATTTATAATAAATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32270106	G G	GCCAGACT others(311): Show GCCAGACTCCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18981.hp1 NA18988.hp2 others(2): Show HG04184.hp2 NA18981.hp1 NA18988.hp2 NA18989.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008	a0001c0002t0002g0073 a0001c0002t0002g0241 a0001c0002t0005g0110 others(2): Show a0001c0002t0002g0073 a0001c0002t0002g0241 a0001c0002t0005g0110 a0001c0002t0005g0141 a0001c0002t0008g0115	5	290	0.0172	318	c.427 others(337): Show c.427-23875_427-23874insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCAGACTCCCTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRCA2_chr13_32310508_32405268	32348295	T T	TAAAAGTT others(311): Show TAAAAGTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01257.hp2 others(32): Show HG00639.hp2 HG00735.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02165.hp1 HG02273.hp2 HG02698.hp1 HG02818.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04204.hp2 NA18612.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp2 NA18951.hp2 NA18957.hp2 NA18979.hp2 NA18995.hp1 NA19001.hp2 NA19006.hp2 NA19065.hp1 NA19072.hp1 NA19080.hp2 NA19087.hp1	a0003 a0006 a0017 a0003 a0006 a0017	a0003c0005 a0003c0023 a0006c0009 others(1): Show a0003c0005 a0003c0023 a0006c0009 a0017c0050	a0003c0005t0003 a0003c0005t0032 a0003c0005t0033 others(4): Show a0003c0005t0003 a0003c0005t0032 a0003c0005t0033 a0003c0023t0007 a0006c0009t0003 a0006c0009t0027 a0017c0050t0003	a0003c0005t0003g0008 a0003c0005t0003g0028 a0003c0005t0003g0029 others(29): Show a0003c0005t0003g0008 a0003c0005t0003g0028 a0003c0005t0003g0029 a0003c0005t0003g0030 a0003c0005t0003g0037 a0003c0005t0003g0038 a0003c0005t0003g0039 a0003c0005t0003g0040 a0003c0005t0003g0041 a0003c0005t0003g0042 a0003c0005t0003g0043 a0003c0005t0003g0044 a0003c0005t0003g0045 a0003c0005t0003g0046 a0003c0005t0003g0047 a0003c0005t0003g0048 a0003c0005t0003g0049 a0003c0005t0003g0050 a0003c0005t0003g0051 a0003c0005t0003g0053 a0003c0005t0003g0054 a0003c0005t0003g0202 a0003c0005t0003g0216 a0003c0005t0003g0218 a0003c0005t0003g0340 a0003c0005t0032g0364 a0003c0005t0033g0036 a0003c0023t0007g0007 a0006c0009t0003g0006 a0006c0009t0003g0025 a0006c0009t0027g0288 a0017c0050t0003g0052	35	398	0.0879	318	c.700 others(337): Show c.7007+1406_7007+1407insTTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTT	BRCA2	ENSG00000139618.18	transcript	ENST00000380152.8	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
BRF1_chr14_105204286_105306001	105276190	C C	CGGCCCTC others(311): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCT GAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGA GCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAA GGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGA GAAGGAGCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAG TGAGAAGGAGCTGAGAGGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	72	0.0139	318	c.266 others(335): Show c.266-3297_266-3296insCCCTCTCAGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCGGCTCCTTCTCACTGTGG CCTCCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCACTG TGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCA CTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCAGCTCCTTC TCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCGGCTCC TTCTCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276985	G G	GGGCCCTC others(311): Show GGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGA GCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAA GGAGCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGA GAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAG TGAGAAGGAGCCGAGAGGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	72	0.0139	318	c.266 others(335): Show c.266-4092_266-4091insGCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCACTGTGG CCTCCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCGGCTCCTTCTCACTG TGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCA CTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCCCCTCTCGGCTCCTTC TCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTCC TTCTCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRINP2_chr1_177165958_177287422	177184725	T T	TAAAAATA others(311): Show TAAAAATAAAATAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	252	0.0040	318	c.-77 others(337): Show c.-77+13008_-77+13009insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAATAAAATAAAAAAATAAAATAACA	BRINP2	ENSG00000198797.7	transcript	ENST00000361539.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(311): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01952.hp1 HG02074.hp2 others(12): Show HG01928.hp1 HG01952.hp1 HG02074.hp2 HG02273.hp1 HG04199.hp1 NA18612.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp1 NA18974.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0039 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0251 a0001c0001t0002g0269 a0001c0001t0006g0002 others(10): Show a0001c0001t0001g0251 a0001c0001t0002g0269 a0001c0001t0006g0002 a0001c0001t0039g0276 a0001c0002t0003g0002 a0001c0002t0003g0012 a0001c0002t0003g0045 a0001c0002t0003g0252 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0277 a0001c0002t0004g0213 a0001c0002t0004g0275	15	416	0.0361	318	c.-42 others(329): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
BTNL8_chr5_180894159_180955906	180922591	T T	TAAGAAGT others(311): Show TAAGAAGTGTTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02615.hp2 HG02257.hp2 HG02451.hp1 HG02615.hp2	a0002 a0009 a0002 a0009	a0002c0005 a0002c0024 a0009c0018 a0002c0005 a0002c0024 a0009c0018	a0002c0005t0001 a0002c0024t0001 a0009c0018t0001 a0002c0005t0001 a0002c0024t0001 a0009c0018t0001	a0002c0005t0001g0142 a0002c0024t0001g0062 a0009c0018t0001g0047 a0002c0005t0001g0142 a0002c0024t0001g0062 a0009c0018t0001g0047	3	190	0.0158	318	c.673 others(337): Show c.673+10990_673+10991insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAAAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAGTGTTTTG	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180922591	T T	TAAGAAGT others(311): Show TAAGAAGTGTTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG02970.hp2 others(1): Show HG01243.hp2 HG02451.hp2 HG02970.hp2 HG03540.hp2	a0002 a0007 a0002 a0007	a0002c0005 a0007c0017 a0002c0005 a0007c0017	a0002c0005t0001 a0007c0017t0001 a0002c0005t0001 a0007c0017t0001	a0002c0005t0001g0058 a0002c0005t0001g0060 a0002c0005t0001g0061 others(1): Show a0002c0005t0001g0058 a0002c0005t0001g0060 a0002c0005t0001g0061 a0007c0017t0001g0052	4	190	0.0211	318	c.673 others(337): Show c.673+10990_673+10991insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAAAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAGTGTTTTG	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180922591	T T	TAAGAAGT others(311): Show TAAGAAGTGTTTTGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01167.hp1 HG01243.hp1 others(42): Show HG00544.hp2 HG01167.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG02027.hp2 HG02080.hp1 HG02132.hp2 HG02145.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG04115.hp1 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18966.hp1 NA19054.hp2 NA19072.hp2	a0002 a0005 a0006 others(4): Show a0002 a0005 a0006 a0007 a0009 a0011 a0012	a0002c0002 a0002c0005 a0002c0007 others(8): Show a0002c0002 a0002c0005 a0002c0007 a0005c0009 a0005c0012 a0005c0021 a0006c0008 a0007c0013 a0009c0022 a0011c0026 a0012c0023	a0002c0002t0001 a0002c0005t0001 a0002c0007t0001 others(8): Show a0002c0002t0001 a0002c0005t0001 a0002c0007t0001 a0005c0009t0001 a0005c0012t0001 a0005c0021t0001 a0006c0008t0001 a0007c0013t0001 a0009c0022t0001 a0011c0026t0001 a0012c0023t0001	a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0008 others(35): Show a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0005t0001g0087 a0002c0007t0001g0039 a0002c0007t0001g0042 a0002c0007t0001g0044 a0002c0007t0001g0055 a0005c0009t0001g0034 a0005c0009t0001g0035 a0005c0009t0001g0036 a0005c0012t0001g0038 a0005c0012t0001g0041 a0005c0021t0001g0029 a0006c0008t0001g0011 a0006c0008t0001g0143 a0007c0013t0001g0040 a0007c0013t0001g0043 a0009c0022t0001g0053 a0011c0026t0001g0077 a0012c0023t0001g0037	45	190	0.2368	318	c.673 others(337): Show c.673+10990_673+10991insGGCCGGGCGCGGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAAAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAGTGTTTTG	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
C13orf46_chr13_113948705_113979076	113961472	A A	AGAAATAA others(311): Show AGAAATAACTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT CAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(43): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01884.hp2 HG01978.hp2 HG02056.hp2 HG02109.hp2 HG02129.hp1 HG02293.hp1 HG02735.hp1 HG03490.hp1 HG03540.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18961.hp2 NA18973.hp2 NA18975.hp2 NA18986.hp2 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19009.hp2 NA19012.hp1 NA19077.hp1 NA19087.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0017 a0001c0001t0046 others(6): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0046 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0028 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0017g0211 a0001c0001t0017g0233 a0001c0001t0046g0238 a0001c0001t0051g0210 a0001c0001t0054g0237 a0001c0001t0055g0195 a0001c0001t0058g0228 a0001c0001t0059g0212 a0001c0008t0001g0206	46	414	0.1111	318	c.572 others(335): Show c.572+3454_572+3455insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTTATTTC	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6			chr13	TogoVar
C19orf67_chr19_14076624_14090783	14090083	G G	GGCGGCGG others(311): Show GGCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGC GGGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCG GGGGCCCCGCGGGGGGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03486.hp2 HG02572.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0002 a0001c0001t0001g0020	2	394	0.0051	318	c.-44 others(329): Show c.-4457_-4456insGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCGC CGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTCG CCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCACA GCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGGC CGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTGG CGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCGG GAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCGC	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4301		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(311): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGACTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGG GGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	394	0.0025	318	c.-44 others(329): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCG GGAGTCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(311): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGCCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGG GGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	394	0.0025	318	c.-44 others(329): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGGCCG GGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(311): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGACGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGG GGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	394	0.0025	318	c.-44 others(329): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGTCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCG GGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(311): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGAGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGG GGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02922.hp1 NA18906.hp1 HG02145.hp1 HG02922.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	3	394	0.0076	318	c.-44 others(329): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCTCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCG GGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(311): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGG GGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(326): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0002c0002t0001 a0003c0004t0001 a0004c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0002g0014 a0001c0001t0002g0038 a0001c0001t0004g0019 a0001c0001t0007g0039 a0001c0001t0009g0068 a0002c0002t0001g0007 a0002c0002t0001g0040 a0003c0004t0001g0030 a0003c0004t0001g0066 a0004c0003t0001g0016	329	394	0.8350	318	c.-44 others(329): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCG GGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C1orf159_chr1_1076823_1121089	1080820	G G	GGTCCCTG others(311): Show GGTCCCTGTCTCCTTCCCTCCGCCCCACCTCGGTCCCTGTCTCCTTCCCT CCGCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCC TGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCC CCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTC TCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCA CCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCT TCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	326	0.0031	318	c.20 others(329): Show c.2072_*2073insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGCGGAGGGAAGGAGACAGG GACCGAGGTGGGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1002		chr1	TogoVar
C4orf19_chr4_37448925_37598510	37585231	G G	GTGTTGAG others(311): Show GTGTTGAGGGAGAGGAGGGGAGAGGAGAGTGTTGAGGGAGAGGAGGGGAG AGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAAGG GAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTG AGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAG AGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGG GAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGA AGGGAGGGGAGAGGAGAGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0128 a0002c0002t0011g0128	1	354	0.0028	318	c.-22 others(335): Show c.-22-3614_-22-3613insGTTGAGGGAGAGGAGGGGAGAGGAGAGT GTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGA GGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGG AGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGA GGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGA GGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGG AGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGAT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C8A_chr1_56849797_56923223	56855418	T T	TAAGAGTG others(311): Show TAAGAGTGCTGTCTCCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	366	0.0027	318	c.77+ others(331): Show c.77+454_77+455insCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGAGTGCTGTCTC	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(311): Show TGGCGGGTGAGTAGACGGTCGGCATGCCTAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCATAGGGGCCGAAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0021 a0021	a0021c0034 a0021c0034	a0021c0034t0003 a0021c0034t0003	a0021c0034t0003g0002 a0021c0034t0003g0002	2	338	0.0059	318	c.300 others(335): Show c.300-9376_300-9375insGGCATGCCTAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCATAGGGGCCGA AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24316244	G G	GCACAGCT others(311): Show GCACAGCTCTCCTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01175.hp2 HG01358.hp2 others(7): Show HG00408.hp1 HG01175.hp2 HG01358.hp2 HG01361.hp1 HG02738.hp1 HG03669.hp2 HG04199.hp2 NA18747.hp2 NA18951.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0139 others(7): Show a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0279 a0001c0001t0001g0305 a0001c0001t0002g0067 a0001c0001t0002g0343	10	366	0.0273	318	c.212 others(337): Show c.212-30474_212-30473insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCACAGCTCTCCTTTCT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATATA others(311): Show TATATATATATGTGTATATATATGTATATACATATATATGTGTATATATA TGTATATACATATATATGTGTATATATATGTATATACATATATATGTGTA TATATATGTATATACATATATATGTGTATATATATGTATATACATATATA TGTGTATATATATGTATATACATATATATATGTGTATATATATGTATATA CATATATATGTGTGTATATATATGTATATACATATATATGTGTATATATA TGTATATACATATATATATGTGTATATATATGTATATACATATATATATG TGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	164	0.0061	318	c.125 others(337): Show c.125-88284_125-88283insGTATATACATATATATACACATATAT ATATGTATATACATATATATACACATATATATATGTATATACATATATAT ACACATATATATGTATATACATATATATACACACATATATATGTATATAC ATATATATACACATATATATATGTATATACATATATATACACATATATAT GTATATACATATATATACACATATATATGTATATACATATATATACACAT ATATATGTATATACATATATATACACATATATATGTATATACATATATAT ACACATATATATGTATATACATATATATACACATATATATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(311): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0018 a0003c0003t0001g0018	1	328	0.0031	318	c.100 others(337): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CALHM5_chr6_116506639_116529788	116522977	T T	TAAAATGT others(311): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGCAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0002 a0001c0001t0109g0002	1	402	0.0025	318	c.70 others(329): Show c.7004_*7005insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGCAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAATGTGGATTGCTG	CALHM5	ENSG00000178033.6	transcript	ENST00000368599.4	protein_coding	2/2	7005	INFO_REALIGN_3_PRIME	chr6	TogoVar
CALHM5_chr6_116506639_116529788	116522977	T T	TAAAATGT others(311): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0002 a0001c0001t0124g0002	1	402	0.0025	318	c.70 others(329): Show c.7004_*7005insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAATGTGGATTGCTG	CALHM5	ENSG00000178033.6	transcript	ENST00000368599.4	protein_coding	2/2	7005	INFO_REALIGN_3_PRIME	chr6	TogoVar
CALHM5_chr6_116506639_116529788	116522977	T T	TAAAATGT others(311): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 HG01069.hp2 HG01071.hp2 others(32): Show HG00597.hp1 HG01069.hp2 HG01071.hp2 HG01346.hp1 HG01496.hp2 HG02027.hp2 HG02080.hp2 HG02148.hp2 HG02165.hp2 HG03669.hp1 HG03688.hp2 NA18612.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18953.hp2 NA18959.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18975.hp1 NA18989.hp2 NA18993.hp1 NA18997.hp2 NA19006.hp1 NA19011.hp2 NA19057.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0027 others(10): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0027 a0001c0001t0029 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0098 a0001c0001t0106 a0001c0001t0113 a0001c0001t0114 a0001c0001t0122 a0001c0001t0162	a0001c0001t0002g0002 a0001c0001t0019g0002 a0001c0001t0027g0002 others(10): Show a0001c0001t0002g0002 a0001c0001t0019g0002 a0001c0001t0027g0002 a0001c0001t0029g0002 a0001c0001t0046g0002 a0001c0001t0047g0002 a0001c0001t0048g0002 a0001c0001t0098g0002 a0001c0001t0106g0002 a0001c0001t0113g0002 a0001c0001t0114g0002 a0001c0001t0122g0023 a0001c0001t0162g0002	35	402	0.0871	318	c.70 others(329): Show c.7004_*7005insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAATGTGGATTGCTG	CALHM5	ENSG00000178033.6	transcript	ENST00000368599.4	protein_coding	2/2	7005	INFO_REALIGN_3_PRIME	chr6	TogoVar
CALN1_chr7_71774491_72417338	71936896	G G	GGAGTTTC others(311): Show GGAGTTTCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTA GCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0135 a0001c0001t0053g0135	1	142	0.0070	318	c.501 others(337): Show c.501+86760_501+86761insAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAGAAACTC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CAMKK1_chr17_3855315_3898053	3868170	C C	CTCTGGGG others(311): Show CTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGA GAAGCAGGCGCCGTCTAACTGATACGTGGGCACGGGGGAGATGCAGGCAC CGTCTAACTGATACACAGGATCTGGGGGAGAAGCAGGCGCCGTCTAACTG ATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGC TCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAG AAGCAGGCGCCGTCTAACTGATACGTGGGCACGGGGGAGATGCAGGCACC GTCTAACTGATACACAGGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18975.hp2 HG02080.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0097 a0001c0002t0004g0107 a0001c0002t0004g0097 a0001c0002t0004g0107	2	446	0.0045	318	c.134 others(337): Show c.1341+1316_1341+1317insTCCTGTGTATCAGTTAGACGGTGCCT GCATCTCCCCCGTGCCCACGTATCAGTTAGACGGCGCCTGCTTCTCCCCC AGAGCCCACGTATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCACG TATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCACGTATCAGTTAG ACGGCGCCTGCTTCTCCCCCAGATCCTGTGTATCAGTTAGACGGTGCCTG CATCTCCCCCGTGCCCACGTATCAGTTAGACGGCGCCTGCTTCTCCCCCA GAGCCCACGTATCAGTTAGACGGCGCCTGCTTCTCCCCCAGA	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKMT_chr2_44356947_44777592	44598696	T T	TAAAATCA others(311): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01109.hp1 others(14): Show HG00735.hp1 HG01099.hp1 HG01109.hp1 HG01243.hp2 HG02071.hp2 HG02615.hp1 HG02717.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03579.hp2 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA18942.hp1 NA19000.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0060 others(14): Show a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0002g0001 a0001c0001t0003g0102 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0003t0001g0003	17	198	0.0859	318	c.377 others(339): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATCAGAAGTCCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(311): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCCACGTCG CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0102 a0003c0014t0002g0102	1	410	0.0024	318	c.-22 others(335): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN7_chr3_15201246_15257916	15252819	C C	CAAAAGAC others(311): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02615.hp1 others(7): Show HG01891.hp2 HG02258.hp2 HG02615.hp1 HG02809.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0016 a0001c0001t0004g0043 others(3): Show a0001c0001t0004g0006 a0001c0001t0004g0016 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046	10	376	0.0266	318	c.15 others(329): Show c.1575_*1576insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAGACAGGTTACTG	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	21/21	1576	INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN7_chr3_15201246_15257916	15252819	C C	CAAAAGAC others(311): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG03195.hp1 HG02559.hp1 HG02809.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0017 a0001c0001t0012 a0001c0001t0017	a0001c0001t0012g0041 a0001c0001t0012g0042 a0001c0001t0017g0039 a0001c0001t0012g0041 a0001c0001t0012g0042 a0001c0001t0017g0039	3	376	0.0080	318	c.15 others(329): Show c.1575_*1576insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAGACAGGTTACTG	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	21/21	1576	INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN7_chr3_15201246_15257916	15252819	C C	CAAAAGAC others(311): Show CAAAAGACAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAAAT TAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG02895.hp2 others(4): Show HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03486.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0269 a0001c0001t0005g0270 others(4): Show a0001c0001t0005g0035 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0274 a0001c0001t0005g0275	7	376	0.0186	318	c.15 others(329): Show c.1575_*1576insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAAATT AGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAGACAGGTTACTG	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	21/21	1576	INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN7_chr3_15201246_15257916	15252826	C C	CAGGTTAC others(311): Show CAGGTTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02145.hp2 others(3): Show HG01891.hp1 HG02145.hp1 HG02145.hp2 HG02622.hp2 HG02647.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0006 a0003c0004t0006 a0001c0001t0006 a0003c0004t0006	a0001c0001t0006g0290 a0001c0001t0006g0295 a0001c0001t0006g0296 others(3): Show a0001c0001t0006g0290 a0001c0001t0006g0295 a0001c0001t0006g0296 a0003c0004t0006g0277 a0003c0004t0006g0282 a0003c0004t0006g0293	6	376	0.0160	318	c.15 others(329): Show c.1575_*1576insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAGGTTACTG	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	21/21	1576	INFO_REALIGN_3_PRIME	chr3	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(311): Show GAGGGAGGGAGGAAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGA GGAGACAGGAAAGGAAGGGGTGGCAGGGGAGAGAGACTGGGGGGGGAGGG GGGGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGT TGAGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGA GGGAGGAGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAG GGAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0173 a0003c0004t0001g0173	1	276	0.0036	318	c.286 others(335): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCCTCTCTCTCCCTCCCCCCCTCCTTC TCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCC CCCAGTCTCTCTCCCCTGCCACCCCTTCCTTTCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(311): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGG GAGAAGGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0199 a0001c0002t0002g0199	1	276	0.0036	318	c.286 others(335): Show c.2864+144_2864+145insTCTCCCTCCCCCCCTTCTCCCTCCCCCT TCTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTC TCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCC TCCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCCTCCTTCTCAACCCCT CTCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCC CCCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCC CCCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(311): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAG GGAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0195 a0001c0002t0002g0195	1	276	0.0036	318	c.286 others(335): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCCTCCTTC TCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCC CTCCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCT CTCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCC CCCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCC CCCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar

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Search Results (Total: 10000 hits)