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
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(1045): Show CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCACCTC CACTATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA CCATCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCACCT CCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCA CCTCCACCACCACCACCTCCTTCACCATCACCACCTCCTTCACCATCACC ATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCAC CTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATC ACCACCTCCTTCACCATCACCACCACCACCACCTCCACTATCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCAACA CCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACC ATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTC CACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATCA CCA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0134 a0003c0134	a0003c0134t0001 a0003c0134t0001	a0003c0134t0001g0217 a0003c0134t0001g0217	1	256	0.0039	1052	c.323 others(1071): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCACCACCACCACCTCCACTATCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCATCACCTCCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCATCACCATCACCACCACCTCCACCATCACC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCACC TCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCAC CATCACCTCCACCTCCACCATCACCACCACCTCCACCACCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCTTCACCAT CACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCAC CACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCA CCACCTCCACTATCACCACCACCACCTCCACCATCACCACCACCTCCACC ACCACCAGCATCTTCACCAACACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCACCTCCTTCACCATCACC ATCACCTCCACCTCCACCATCACCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(1045): Show CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCACCTC CACTATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA CCATCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCACCT CCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCA CCTCCACCACCACCACCTCCTTCACCATCACCACCTCCTTCACCATCACC ATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCAC CTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCA CCACCTCCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCTCCTTCACCATCACCACCACCACCACCTCCACTATCACCACCACCAC CTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCAACACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATCA CCA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18612.hp1 HG02080.hp1 NA18612.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0016 a0003c0001t0001 a0003c0001t0016	a0003c0001t0001g0158 a0003c0001t0016g0157 a0003c0001t0001g0158 a0003c0001t0016g0157	2	256	0.0078	1052	c.323 others(1071): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCACCACCACCACCTCCACTATCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCATCACCTCCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCATCACCATCACCACCACCTCCACCATCACC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCACC TCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCAC CATCACCTCCACCTCCACCATCACCACCACCTCCACCACCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCTTCACCAT CACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATC ACCACCACCTCCACCATCACCACCACCTCCATCACCACCACCTCCACCAC CACCACCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCA CCTCCACTATCACCACCACCACCTCCACCATCACCACCACCTCCACCACC ACCAGCATCTTCACCAACACCACCACCTCCACCACCACCAGCATCTTCAC CATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACC ATCACCTCCACCTCCACCATCACCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
GTPBP6_chrX_299759_323796	315691	C C	CGCAGACA others(1045): Show CGCAGACACACACACACACACACACACACACAGTAAATACATCCCGACAG GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA TACACACGCAGACACACACACACACACACAAACACACAGTAAATACATCC CGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACAC ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCA GACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC ACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCGGCAGGGACACAAACACATACACACGCAGACACAACACACACACAC ACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACA CAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAAACA CATACACACGCAGACACACACACACACACACACAGTAAATACATCCCGAC AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CACACACACACACACACACACACTAAATACATCCCGACAGGGACAGACAC AGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGG GACACAAACACATACACACGCAGACACACACACACACACAAACACACAGT AAATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAG ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACG CAG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0086 a0003c0004t0001g0086	1	155	0.0065	1052	c.488 others(1067): Show c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT GTGTGTGTGTCTGCGTGTGTATGTGTTTTGTGTCCCTGCCAGCATGTGTT TACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCG GGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTGTGTGTCTGC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	315691	C C	CGCAGACA others(1045): Show CGCAGACACACACACACACACACACACACACAGTAAATACATCCCGACAG GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA TACACACGCAGACACACACACACACACACAAACACACAGTAAATACATCC CGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACAC ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCA GACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC ACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA TACACACGCAGACACACACACACACACACACAGTAAATACATCCCGACAG GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA CACACACACACACACACACACACTAAATACATCCCGACAGGGACAGACAC AGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGG GACACAAACACATACACACGCAGACACACACACACACACAAACACACAGT AAATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAG ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACG CAG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0088 a0003c0004t0002g0088	1	155	0.0065	1052	c.488 others(1067): Show c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTGTGTGTCTGC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406199	T T	TTGTCACT others(1045): Show TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTGTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTGT GACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGT GTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0210 a0001c0001t0210	a0001c0001t0210g0186 a0001c0001t0210g0186	1	276	0.0036	1052	c.63 others(1061): Show c.634_*635insCACACACACTGAAGGCCTGAGGAAGACGAGATGTCA CAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAG ATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAA GCCTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCT GAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACACACACACACTGA AGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACA CACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACA AACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCA GTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTC CACTCAGTGACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGG TCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCA CAGAGGTCCACTCAGTGACACACACACACTGAAGGCCTGAGGAAGACGAG ATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAA GACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCT GAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGA AGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACA CACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACA CACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGA CAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACT CAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGG TCCACTCAGTGACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGA GGTCCACTCAGTGACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	634		chr2	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(1045): Show CCACCCTTACATCTACCTCCACACCCACAATTACACCCACGCTTACATCT ACCTCCACGCCCACACTCACACCCACCCACACTTACATCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTTACACTCATGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAATTACAC CCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTAC ATCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTTACACTCATGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCT CCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0123 a0001c0001t0013g0123	1	290	0.0035	1052	c.129 others(1069): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACAATTAC ACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTT ACATCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACTCATGC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACAATTACACCCACGCTTACATCTACCTCCACGCCCACACTCAC ACCCACCCACACTTACATCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACTCATGC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LSS_chr21_46183446_46233774	46184620	A A	ACCCAGTG others(1045): Show ACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACCCACCACCA CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCA CCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTAC TCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGATGGGTACTCAGGACCACCACCATCCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCATCCCAGTG GGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACC AACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACC ACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACCC ACCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGG GTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTG TGACGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCA GCCCTGTGACGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACA CCTCCAGCCCTGTGACGGGTACTCAGGACCACCAACAACCCAGTGGGCCG GCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGT GGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCC AGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAC CAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG01978.hp1 others(16): Show HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02258.hp1 HG02258.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp2 NA19043.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0005 a0015c0017 a0001c0001 a0001c0005 a0015c0017	a0001c0001t0001 a0001c0005t0001 a0001c0005t0009 others(2): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0009 a0001c0005t0024 a0015c0017t0009	a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0005t0001g0005 others(12): Show a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0005t0001g0005 a0001c0005t0001g0040 a0001c0005t0001g0277 a0001c0005t0001g0278 a0001c0005t0001g0279 a0001c0005t0001g0282 a0001c0005t0001g0283 a0001c0005t0009g0273 a0001c0005t0009g0274 a0001c0005t0009g0280 a0001c0005t0009g0281 a0001c0005t0024g0275 a0015c0017t0009g0271	19	358	0.0531	1052	c.64 others(1063): Show c.6483_*6484insATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTA CCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCC TGAGTACCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGG TGGTCCTGAGTACCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGTTGGTGGTCCTGAGTACCCGTCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGT GTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGG GCTGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTCCTGAGTACCCAT CACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGT ACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTC CTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTG GTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGG TTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACT GGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGG CCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGTGT GGCCGGCCCACTGGGTTGGTGGTGGTGGGTACCCATCACAGGGCTGGAGG TGTGGCCGGCCCACTGGG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3825		chr21	TogoVar
MCF2L_chr13_112964214_113104742	112972798	T T	TGGATGGA others(1045): Show TGGATGGATGACTGGGTGACTGGATGGATGGGTAGGTGGAGGATGGATGG ATGGATGGATAGATGGGTGGGTAGATGGGTGGGTGGATGCATCAATGAGC AGATAGATGGATGAGTGGATGGATGGATGCATAGATGAATGGGTGGATGA ATGGGTAGATGGGTAGCTGGATGGATGTGTGGGTGGGTGGATGAGTAGAT GTGTGGGTGGGTGAGTGGATGGATGATGATGGATGGATAGATGGATGGGT GGCTGGATGGATGAATGAGTGAGTGGGTGGATGGATGGGTGAGTGAATGG ATGGATGATGGATGGATGGAAGGTGGATGGATGAATGGGTAGATAGATAG GTGGATGGATGGATGAGAAGATGAATGGATGTAAGGTAGATGGATGGATG GGTGAGTTAATGGATGGATGATGGATGGATGGAAGGTGGATGGATGAATG GGTAGATAGATAGGTGGATGGATGGATGAGAAGATGAATGGATGTAAGGT AGATGGATGGATGGGTGAGTGGGTGAATAGGTATGTGAACACATGGATGA CTAGACAAATGGGTGGGTGGGTGGATGGATGGATGAATAGGTGGGTGGTA GATGGGTGGGTGAGTGGATGGATGCATAAGTGGATGTATGGATGGATGGA TGGATGACTTGATGGATGGATGGATGATGATAGATGGGTGGGTGGGTGGG TGGATGGATAGATGGATGTGTGGGTGGATGGACAGAATGACTGGATGGAC AGGTGGGTGGATGCATAGATGAATGGATGCATGGATGAGTGGATGGATGG ATGGGTAGATGGATGGGTGGGTGGGTAGATAAGTGGATGGATGGATGGAT GGATGGATGACCGGATGGATGGATGATGATGGATGGGTGGGTGAGTGGGT GGGTGGATGGATAGATGACTGGATGGATGGATGAATGATGATGGATGAAT GGATGGGTAGGTAGATGGATGGATGAATGGATGGGTGGATGTGTAGGTGG ATGAGTGATTGGATGTATGGATGAATGGGTGGGTGGGTGGGTGGATGGAT GGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0016 a0001c0005t0025g0016	1	116	0.0086	1052	c.79+ others(1067): Show c.79+3343_79+3344insTGGATGACTGGGTGACTGGATGGATGGGTA GGTGGAGGATGGATGGATGGATGGATAGATGGGTGGGTAGATGGGTGGGT GGATGCATCAATGAGCAGATAGATGGATGAGTGGATGGATGGATGCATAG ATGAATGGGTGGATGAATGGGTAGATGGGTAGCTGGATGGATGTGTGGGT GGGTGGATGAGTAGATGTGTGGGTGGGTGAGTGGATGGATGATGATGGAT GGATAGATGGATGGGTGGCTGGATGGATGAATGAGTGAGTGGGTGGATGG ATGGGTGAGTGAATGGATGGATGATGGATGGATGGAAGGTGGATGGATGA ATGGGTAGATAGATAGGTGGATGGATGGATGAGAAGATGAATGGATGTAA GGTAGATGGATGGATGGGTGAGTTAATGGATGGATGATGGATGGATGGAA GGTGGATGGATGAATGGGTAGATAGATAGGTGGATGGATGGATGAGAAGA TGAATGGATGTAAGGTAGATGGATGGATGGGTGAGTGGGTGAATAGGTAT GTGAACACATGGATGACTAGACAAATGGGTGGGTGGGTGGATGGATGGAT GAATAGGTGGGTGGTAGATGGGTGGGTGAGTGGATGGATGCATAAGTGGA TGTATGGATGGATGGATGGATGACTTGATGGATGGATGGATGATGATAGA TGGGTGGGTGGGTGGGTGGATGGATAGATGGATGTGTGGGTGGATGGACA GAATGACTGGATGGACAGGTGGGTGGATGCATAGATGAATGGATGCATGG ATGAGTGGATGGATGGATGGGTAGATGGATGGGTGGGTGGGTAGATAAGT GGATGGATGGATGGATGGATGGATGACCGGATGGATGGATGATGATGGAT GGGTGGGTGAGTGGGTGGGTGGATGGATAGATGACTGGATGGATGGATGA ATGATGATGGATGAATGGATGGGTAGGTAGATGGATGGATGAATGGATGG GTGGATGTGTAGGTGGATGAGTGATTGGATGTATGGATGAATGGGTGGGT GGGTGGGTGGATGGATGGAGGA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MPG_chr16_73225_90846	82196	C C	CGCGCTGA others(1045): Show CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCC AGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCAC CCTATCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTC CCACCACCCTACCTCCAGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATG CTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCC GGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCAC CCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCT TCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCCGGCGCTG ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGG CCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTT CTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTG ACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATACTCCC CCG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	442	0.0023	1052	c.301 others(1067): Show c.301-828_301-827insCCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATG CTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCC TCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCC GGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCC TACCTCCAGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATG CTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCC GGGAAGCCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCAC CCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCC GGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGG CCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACC ACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATACTCCCCCGGCGCTG ACCCCTTCTTCCCACCACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYT1L_chr2_1784113_2336275	2035081	A A	AATCTCCA others(1045): Show AATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCC AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCAACCATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCAACCATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAA CTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCT AACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCT CCTAAGTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGA GCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAG AGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAG AAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTG CAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACACTCCAATGCGGG TGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCG GGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAAT GCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCA ATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTC CAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCC TCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCA CCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTC CACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAAT CTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACA ATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCA ACC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG00280.hp1 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0004 a0001c0001t0004 a0001c0007t0004	a0001c0001t0004g0010 a0001c0007t0004g0006 a0001c0001t0004g0010 a0001c0007t0004g0006	2	104	0.0192	1052	c.-15 others(1073): Show c.-158+18896_-158+18897insGGTTGGGGAGAAGTTAGGAGCTCT CTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAGCT CTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGA GCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAG GAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGT TAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAA GTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAG AAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGG AGAAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTG GGGAGAAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTG TGGGGAGAAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGTGTGGAGAT TGTGGGGAGAAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAG ATTGTTGGGGAGAAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTG GAGATTGTTGGGGAGAAGTTAGGAGCTCTCTTCTGCACCCGCATTGGAGG GTGGAGATTGTTGGGGAGAAGTTAGGAGCTCTCTTCTGCACCCGCATTGG AGGGTGGAGATTGTTGGGGAGAACTTAGGAGCTCTCTTCTGCACCCGCAT TGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAGCTCTCTTCTGCACCCG CATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAGCTCTCTTCTGCACC CGCATTGGAGGGTGGAGATGGTTGGGGAGAAGTTAGGAGCTCTCTTCTGC ACCCGCATTGGAGGGTGGAGATGGTTGGGGAGAAGTTAGGAGCTCTCTTC TGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAGCTCTC TTCTGCACCCGCATTGGAGGGTGGAGAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
NXN_chr17_794310_984776	949356	T T	TGCCTCCT others(1045): Show TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTC TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCT CTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC GCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCC GCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCC TCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC GCG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	242	0.0041	1052	c.360 others(1071): Show c.360+29962_360+29963insCGCGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCC GCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG AGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGCGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(1045): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTC CTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCC CCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCC TCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0102 a0001c0001t0007g0102	1	312	0.0032	1052	c.306 others(1071): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTC TCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTC CTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC12A7_chr5_1045384_1117063	1098628	T T	TTCTAACC others(1045): Show TTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCACGCCCAGC CCCCCTCTAACCCTCTGCTCACCAAGCCCCCCTCTAACCCTCTGCATGCC CAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCA CACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTC TGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAAC CCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCT CTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCATGCCCA GCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCACA CCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTG CATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCC TCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTA ACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCT TCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCC CCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCC AGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTC ACCCAGCCCCCCTCTAACCGTCTGCACGCCCAGCCCCCCTCTAACCCTCT GCTCACCCAGCCCCCCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAA CCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCT CTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGACC CCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	118	0.0085	1052	c.125 others(1069): Show c.125-4381_125-4380insGGGGGTCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTT AGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAG GGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGC AGAGGGTTAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGT GCAGACGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGG GTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGG CTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGG GGGGCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTA GAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGG GTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGCCTGGGCGTGCA GAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTG AGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTG GGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGG GCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGA GGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCATG CAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTGGG TGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAGGGGGGC TTGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGG GGCCTGGGCATGCAGAGGGTTAGA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC44A5_chr1_75197129_75616114	75280140	A A	ATATATAG others(1045): Show ATATATAGTATATCTAATATATATTATATATATTTTATATTGTATATATA ATATATAGTATATATTTTATGTTGTATATATAATATACATAGTATATATT ATATATTGTATATAATATATATAGTATATATTATATATTGTATATAATAT ATATAGTATATATTATATATTGTATATAATATATATAGTATATATTATAT ATTGTATATAATATATATAGTATATATTATATATTGTATATAATATATAT AGTATATATTATATATTGTATATAATATATATAGTATATATTATATATAT ATTGTATATGTTATATATTGTATATATAATATATATATTGTATATGTTAT ATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATAAT ATATATTGTATATGTTATATATTGTATATATAATATATATTGTATATGTT ATATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATA ATATATATTGTATATGTTATATATTGTATATATAATATATATTGTATATG TTATATATTGTATATATAATATATATTGTATATGTTATATATTGTATATA TAATATATATTGTATATGTTATATATTGTATATATAATATATATTGTATA TGTTATATATTGTATATATAATATATATTGTATATGTTATATATTGTATA TATAATATATATTGTATATGTTATATATTGTATATATAATATATATTGTA TATGTTATATATTGTATATATAATATATATTGTATATGTTATATATTGTA TATATAATATATATTGTATATGTTATATATTGTATATATAATATATATTG TATATGTTATATATTGTATATATAATATATATTGTATATGTTATATATTG TATATATAATATATATTGTATATGTTATATATTGTATATATAATATATAG TATATGTTATATATTGTATATATAATATATAGTATATGTTATATATTGTA TATATTATATATAGTATATGTTATATATTGTATATATTATATATAGTATA TGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0155 a0001c0005t0005g0155	1	156	0.0064	1052	c.176 others(1069): Show c.176-5099_176-5098insACATATACTATATATAATATATACAATA TATAACATATACTATATATAATATATACAATATATAACATATACTATATA TTATATATACAATATATAACATATACTATATATTATATATACAATATATA ACATATACAATATATATTATATATACAATATATAACATATACAATATATA TTATATATACAATATATAACATATACAATATATATTATATATACAATATA TAACATATACAATATATATTATATATACAATATATAACATATACAATATA TATTATATATACAATATATAACATATACAATATATATTATATATACAATA TATAACATATACAATATATATTATATATACAATATATAACATATACAATA TATATTATATATACAATATATAACATATACAATATATATTATATATACAA TATATAACATATACAATATATATTATATATACAATATATAACATATACAA TATATATTATATATACAATATATAACATATACAATATATATTATATATAC AATATATAACATATACAATATATATTATATATACAATATATAACATATAC AATATATATTATATATACAATATATAACATATACAATATATATTATATAT ACAATATATAACATATACAATATATATTATATATACAATATATAACATAT ACAATATATATTATATATACAATATATAACATATACAATATATATATTAT ATATACAATATATAACATATACAATATATATATAATATATACTATATATA TTATATACAATATATAATATATACTATATATATTATATACAATATATAAT ATATACTATATATATTATATACAATATATAATATATACTATATATATTAT ATACAATATATAATATATACTATATATATTATATACAATATATAATATAT ACTATATATATTATATACAATATATAATATATACTATGTATATTATATAT ACAACATAAAATATATACTATATATTATATATACAATATAAAATATATAT AATATATATTAGATATACTATATA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325270	G G	GGGGGGCG others(1045): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGG GAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGG GGGGCGGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAG GAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAG GGAGAAGGAGTCGGGGGGCCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGG GAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGC GGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAG GAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAG GGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGG AAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCG GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGG AGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGG AAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGG GGCCGGGAAGGAGGGAGAAGGAGTCGGGGGGGGCGGGAAGGAGGGAGAAG GAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAG GGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGG GAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGG GGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGA GTC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	150	0.0067	1052	c.531 others(1069): Show c.531+1930_531+1931insGACTCCTTCTCCCTCCTTCCCGCCCCCC GACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCCG CCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCC TTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTC TCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCC GACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCG ACTCCTTCTCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCG CCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTC CTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTT CTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGA CTCCTTCTCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGC CCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCC TTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTT CTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCGCG ACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCG CCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCC TTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCT CCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGAC TCCTTCTCCCTCCTTCCCGCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46184620	A A	ACCCAGTG others(1045): Show ACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACCCACCACCA CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCA CCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTAC TCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGATGGGTACTCAGGACCACCACCATCCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCATCCCAGTG GGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACC AACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACC ACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACCC ACCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGG GTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTG TGACGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCA GCCCTGTGACGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACA CCTCCAGCCCTGTGACGGGTACTCAGGACCACCAACAACCCAGTGGGCCG GCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGT GGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCC AGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAC CAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01978.hp1 others(16): Show HG01884.hp1 HG01891.hp1 HG01978.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02723.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0026 a0002c0002t0027 a0002c0002t0003 a0002c0002t0026 a0002c0002t0027	a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0044 others(12): Show a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0044 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0026g0043 a0002c0002t0027g0045	19	251	0.0757	1052	c.-12 others(1063): Show c.-1224_-1223insATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTA CCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCC TGAGTACCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGG TGGTCCTGAGTACCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGTTGGTGGTCCTGAGTACCCGTCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGT GTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGG GCTGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTCCTGAGTACCCAT CACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGT ACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTC CTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTG GTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGG TTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACT GGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGG CCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGTGT GGCCGGCCCACTGGGTTGGTGGTGGTGGGTACCCATCACAGGGCTGGAGG TGTGGCCGGCCCACTGGG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		162		chr21	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(1045): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCC ACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCT ATCCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCAT CCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCC CCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCCAC ATCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCAC CCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCAC CCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCC GCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATAC ATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCC ACCTACCCATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCC ACCCACCCACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTA TCCTATTCATCCATCCACCCACCCACCCTATCTATCCACCCACCCACCCA CACTATCCATCCACCCACCCAACCACCCATCCTATTCATCCATCCATCCA CCCACCCAGTCTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCA CCCACCCTATCTATCCACCCACCCACACACCCACACTATCCACCCACCCA CACACCCTATCTACCCACCCAATATATCCACCCACCCACCTACACCATCC ACCCACCCACCCTATCTATCCACCCACCCACACTATCCATCCACCCACCT ATCCTATTCATCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCC ACCTACCCTATCTATCCACCCATCCACCTATCCTATTCATCCATCCACCC ACC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	258	0.0039	1052	c.113 others(1071): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCCACCATCCCCCATCCTATCCACCC CCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCA CCCACCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTAT CCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATC CTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCC CATCCTATCCACCCCCCCCCACATCCATCCTATCCACCCACCCACCCACC ATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCC CACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCA TCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACC TACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACC CACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACC CATCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACC CACCCATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCC TATCTATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCC ATCCTATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCT ATCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACAC ACCCACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATC CACCCACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACC CACACTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACC CAGCCAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACC TATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TPCN2_chr11_69043932_69095597	69068342	C C	CTGGGAGC others(1045): Show CTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGG ACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGT CCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTG ACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGG AGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGT CTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAG GAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGC AGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACGGCAGTGGGAGCAG GACCGTCTGAGTCCTAGGAAGTGACCACAGGGGGAGCAGGACCGTCTGAG TCCTAGGAAGTGACCGCAGTGGGAGCAGGACCATCTGAGTCCTAGGAAGT GACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGG GAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCG TCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTA GGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCG CAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCACAGGGGGAGCA GGACTATCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGA GTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGCAAG TGACACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGG GAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCG TCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTA GGAAGTTACCGCAGTGGGAGCAGGGCCGTCTGAGTCCTAAGAAGTGACCG CAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18945.hp1 NA18959.hp2 HG00438.hp2 NA18945.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157	3	404	0.0074	1052	c.829 others(1067): Show c.829+853_829+854insCTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACT GGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAC CGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCC TAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGAC CGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACGGCAGTGGGAG CAGGACCGTCTGAGTCCTAGGAAGTGACCACAGGGGGAGCAGGACCGTCT GAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCATCTGAGTCCTAGGA AGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAC TGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGA CCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTC CTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGA CCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCACAGGGGGA GCAGGACTATCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTC TGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGC AAGTGACACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAG TGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGA CCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTC CTAGGAAGTTACCGCAGTGGGAGCAGGGCCGTCTGAGTCCTAAGAAGTGA CCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGA GCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTC TGAGTCCTAGGAAGTGACCGCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507379	T T	TACGTATA others(1045): Show TACGTATATATACATGTATTATACATACATAAATGTATATACGTATATAT ACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTAT ACATACATAAATGTATATACGTATATATACATGTATTATACATACATAAA TGTATATACGTATATATACATGTATTATACATACATAAATGTATATACGT ATATATACATGTATTATACATACATAAATGTATATACGTATATATACATG TATTATACATACATAAATGTATATACGTATATATACATGTATTATACATA CATAAATGTATATACGTATATATACATGTATTATACATACATAAATGTAT ATACGTATATATACATGTATTATACATACATAAATGTATATACGTATATA TACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTA TACATACATAAATGTATATACGTATATATACATGTATTATACATACATAA ATGTATATACGTATATATACATGTATTATACATACATAAATGTATATACG TATATATACATGTATTATACATACATAAATGTATATACGTATATATACAT GTATTATACATACATAAATGTATATACGTATATATACATGTATTATACAT ACGTAAATGTATATATACATTATACATACGTAAATGTATATATGTATATA TACATTATACATACGTAAATGTATATATGTATATATACATTATACATACG TAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATATATACATTATACATA CGTAAATGTATATATGTATATATACATTATACATACGTAAATGTATATAT GTATATATACATTATACATACGTAAATGTATATATGTATATATACATTAT ACATACGTAAATGTATTATACATAAATGTATATATGTATATATACATGTA TTATACATACATAAATGTATATATGTATATATACATGTATTATACATACA TAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18612.hp1 HG03540.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0272 a0001c0001t0004g0239 a0001c0001t0004g0272	2	388	0.0052	1052	c.-23 others(1069): Show c.-23+2668_-23+2669insTTATGTATGTATAATACATGTATATATA CATATATACATTTATGTATGTATAATACATGTATATATACATATATACAT TTATGTATAATACATTTACGTATGTATAATGTATATATACATATATACAT TTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAAT GTATATATACATATATACATTTACGTATGTATAATGTATATATACATTAT ACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTAT AATGTATATATACATTATACATTTACGTATGTATAATGTATATATACATA TATACATTTACGTATGTATAATGTATATATACATATATACATTTACGTAT GTATAATGTATATATACATTTACGTATGTATAATACATGTATATATACGT ATATACATTTATGTATGTATAATACATGTATATATACGTATATACATTTA TGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTATAA TACATGTATATATACGTATATACATTTATGTATGTATAATACATGTATAT ATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATATA CATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGTAT GTATAATACATGTATATATACGTATATACATTTATGTATGTATAATACAT GTATATATACGTATATACATTTATGTATGTATAATACATGTATATATACG TATATACATTTATGTATGTATAATACATGTATATATACGTATATACATTT ATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTATA ATACATGTATATATACGTATATACATTTATGTATGTATAATACATGTATA TATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATAT ACATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGTA TGTATAATACATGTATATATACGT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(1045): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAACAACAACAACAAAGAAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCGGGGTTGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAATAAGGTGTTTCACTCTTGTTGCCCGG GCTGTAGTGCAATGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCACCACCACGCCCCGCTAATTTTTCTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCTCCC GCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCG ACCCGGTAGAGAATCTTAAGTATAAAACTTCTTTCTCTTATCATGTCATG ATAAAAACTATAAGGGCGGGGCTGGGCACGGTGGCTCACGCCTGTAATCC CAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	274	0.0037	1052	c.51 others(1063): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCGGTGGCTCATGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCTTATTGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCAACCCCGCTAAAACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAGTGAAACACCATCTCAAAAACAACAACAACAACAAA AACTATCAGGGTGGTTTTTTGTTCATTTGTTTTTTTTTTTCTTTGTTGTT GTTGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCT GGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC CGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGGTTT CACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCCACCCG CCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
ZNF605_chr12_132913306_132961306	132954429	A A	AGGAGAAG others(1045): Show AGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGG TAGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGG AGAAGGGGCTTCAGTCACTCTTGCAGGTGAGGTGGGGAGGGGATGAGAAG GATGGGGGAGGAGAAGGGTGGGAGGGGAGGAGAAGGGTGGGAGGGGAGGA GAAGGGTGGGGAGGGGAGGAGAAGGGTAGGGAGGGGGGGAGAAGGGTGGG GAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTTGGGAGGGGAGGAAA AGGGTGGGGAGGGGAGGAGAAGTGTGGGGAGGGGGGAGAAGGGTGGGGAG GGGGGGAGAAGTGTGGGGACGGGGGGAGAAGTGTGGGGAGGGGGGAGAAG GGTGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGGGAGAAGTGTGGGGACG GGGGGAGAAGTGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAG TGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGG GGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGT GGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGG AGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGG GGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAG AAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGA GGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAG GGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGG GAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGT GGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGA GGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAAGGGGGAGAAGGGTG GGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0091 a0001c0002t0040g0091	1	126	0.0079	1052	c.-28 others(1071): Show c.-286+1813_-286+1814insCCCCACCCTTCTCCCCCTTCCCCACC CTTCTCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCC CCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCC TTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCT CCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTC TCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCCCTCC CCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCC CCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCA CCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCC CCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCC TTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCT CCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCCCCCCTCCCCACCCTT CTCCCCCCCTCCCCACACTTCTCCCCCCGTCCCCACACTTCTCCCCCCCC TCCCCACACTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACACTTC TCCCCCCGTCCCCACACTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCC CCACACTTCTCCTCCCCTCCCCACCCTTTTCCTCCCCTCCCAACCCTTCT CCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCTCCCT ACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCACCCTTCTCCT CCCCTCCCACCCTTCTCCTCCCCCATCCTTCTCATCCCCTCCCCACCTCA CCTGCAAGAGTGACTGAAGCCCCTTCTCCCCCCTCCCCACCCTTCTCCCC CCTCCCCACCCTTCTCCCCCCTCCCTACCCTTCTCCTCCCCTCCCCACCC TTCTCCTCCCCTCCCCACCCTTCTCC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
ARHGAP18_chr6_129571132_129715177	129619467	A A	AGGGGGAG others(1046): Show AGGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGA AAAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGG AAGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGG GGAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAG AGGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGG AAGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGA GGGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGA AGGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGA TGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAG GGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAA GGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGG AAGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGG GGGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAA GGGGGATGGGAAGGGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGG GATGGGGAAGAGGGAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATG GGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTC GATGGGGAAGGGGGATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGG GAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGG GGGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGA GATGGGGAAGGGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGG GGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGAGGAAGGG GGAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	238	0.0042	1053	c.787 others(1068): Show c.787-616_787-615insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTCCACCCTTCCCCTC CCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTTCCCCATCCCCCTT CCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCC CATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCCCT TCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCAT CCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCTA TCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCTTCCCCACC CCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCCC CATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCTC CCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTTC CCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCCCTTCTCTTTCCCCTC CCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCTT TCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTCC CCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTTT CCCTCTCCCTCCTCCCCTCCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1046): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGGAGGGGGAGGGGA TGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAG GGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAA GGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGG AAGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGG GGGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGAAG GGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGG GAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAA GGGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGG GATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGAGGGGA AGGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGG GGGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGA GATGGGGAAGGGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGG GGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGAGGAAGGG GGAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	238	0.0042	1053	c.787 others(1068): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTC CACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTT CCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCC CATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCATC CCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCAT CCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCTA TCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCCTTCCCCAC CCCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCC CCATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCT CCCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTT CCCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCCCTTCTCTTTCCCCT CCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCT TTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTC CCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTT TCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1046): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGGAAGGGGGAGGGGGAGGGGA TGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAG GGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAA GGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGG AAGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGG GGGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGAAG GGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGG GAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAA GGGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGG GATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGAGGGGA AGGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGG GGGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGA GATGGGGAAGGGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGG GGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGGGGAAGGG GGAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	238	0.0042	1053	c.787 others(1068): Show c.787-617_787-616insATCCCCCTTCCCCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTC CACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTT CCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCC CATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCATC CCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCAT CCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCTA TCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCTTCCCCCAC CCCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCC CCATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCT CCCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTT CCCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCCCTTCTCTTTCCCCT CCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCT TTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTC CCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTT TCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1046): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGAAGAGGATGAAGGGGAAGGGGGGAAAACAGAGGGAGAGGATGAAGGGG AAGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGA GGGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGA AGGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGA TGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAG GGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAA GGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGG AAGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGG GGGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGAAG GGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGG GAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAA GGGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGG GATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGAGGGGA AGGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGG GGGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGA GATGGGGAAGGGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGG GGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGAGGAAGGG GGAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	238	0.0042	1053	c.787 others(1068): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTC CACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTT CCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCC CATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCATC CCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCAT CCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCTA TCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCTTCCCCACC CCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCCC CATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCTC CCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTTC CCCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCCCTTCTCTTTCCCCT CCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCT TTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTC CCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTT TCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1046): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGGAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGAT GGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAGG GGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGGA AGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGGG GGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGAAGG GGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGG AAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAAG GGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGGG ATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGAGGGGAA GGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGG GGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGAG ATGGGGAAGGGGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGG GGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGAGGAAGGG GGAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	238	0.0042	1053	c.787 others(1068): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCA TCCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCC CCCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTT CCACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCT TCCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCC CCATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCC CTTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCC CCCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCA TCCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTC CCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCT ATCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCTTCCCCAC CCCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCC CCATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCT CCCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTT CCCCCTTCCCCTTCATCCTCTCCCTCTGTTTTCCCCCTTCTCTTTCCCCT CCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCT TTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTC CCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTT TCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1046): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGGAAAACAG AGGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGG AAGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGA GGGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGA AGGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGA TGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAG GGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAA GGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGG AAGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGG GGGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGAAG GGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGG GAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAA GGGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGG GATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGAGGGGA AGGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGG GGGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGA GATGGGGAAGGGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGG GGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGAGGAAGGG GGAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	238	0.0042	1053	c.787 others(1068): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTC CACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTT CCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCC CATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCATC CCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCAT CCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCTA TCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCTTCCCCACC CCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCCC CATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCTC CCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTTC CCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCCCCTTCTCTTTCCCCT CCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCT TTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTC CCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTT TCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(1046): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGC CCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCC CGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	391	0.0026	1053	c.36 others(1064): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTC CGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCG CAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGC GTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCA GCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(1046): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTG AGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTG ATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGA GAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGA TCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAG AAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGAT CAGC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	214	0.0047	1053	c.565 others(1070): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882314	G G	GGGAGAAG others(1046): Show GGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAG AAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGG GAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAG GAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGG AAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAG CCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGG AAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGA AAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGG GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAA AGCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0142 a0002c0004t0024g0142	1	288	0.0035	1053	c.303 others(1072): Show c.303+23807_303+23808insGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC CCCGCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCG GCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGGCTTTC CTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTT CCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTC TCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC CGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20320494	A A	AATATAAT others(1046): Show AATATAATATATGTAATATATATTATATATGTAATATATATTACATATAT TATATATGCAATATATATTATATATATTATATATGCAATATATATTATAT ATATTATATATGCAATATATATTATATATATTATATATGCAATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TATTACATATGTAATATATATTACATATGTAATATATAATATATTATATA TTACATATGTAATATATAATATATATTACATATGTAATATATAATATATA TTACATATGTAATATATAATATATATTACATATGTAATATATTATATATT ACATATGTAATATATTATATATTACATATGTAATATATAATATATTACAT ATGTAATATATAATATATTATATATGTAATATATATTACATATATAATAT ATATAATATATATGTAATATATTATATATATTATATATGTAATATATATT ACATATATAATATATATTATATATATTACATATATTATATATGTAATATA TATTACATATGTAATATATGTAATATATATTACATATGTAATATATATTA TATATGTAATATATATTACATATATTATATATGTAATATATATTATATAT ATTATATATGTAATGTATAATATATATATTATATATGTAATATATATTAT ATATAATATATGTAATATATATTATATATGTAATGTATATTATATATATT ATATATGTAATGTATATTATATATAATATATGTAATGTATATTATATATG TAATATATATTATATATATTATATATGTAATATATATTATATATATTATA TATGTAATATATATTATATATATTATATATGTAATATATATTATATATAT TATATATGTAATATATATTATATATATTATATATGTAATATATATTATAT ATATTATATATGTAATATATATTATATATATTATATATGTAATATATATT ATATATATTATATATGTAATATATATTATATATATTATATATGTAATATA TATT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	236	0.0042	1053	c.342 others(1074): Show c.3423-21332_3423-21331insATATATGTAATATATATTATATAT GTAATATATATTACATATATTATATATGCAATATATATTATATATATTAT ATATGCAATATATATTATATATATTATATATGCAATATATATTATATATA TTATATATGCAATATATATTATATATGCAATATATATTATATATATTATA TATGCAATATATATTATATATATTACATATGTAATATATATTACATATGT AATATATAATATATTATATATTACATATGTAATATATAATATATATTACA TATGTAATATATAATATATATTACATATGTAATATATAATATATATTACA TATGTAATATATTATATATTACATATGTAATATATTATATATTACATATG TAATATATAATATATTACATATGTAATATATAATATATTATATATGTAAT ATATATTACATATATAATATATATAATATATATGTAATATATTATATATA TTATATATGTAATATATATTACATATATAATATATATTATATATATTACA TATATTATATATGTAATATATATTACATATGTAATATATGTAATATATAT TACATATGTAATATATATTATATATGTAATATATATTACATATATTATAT ATGTAATATATATTATATATATTATATATGTAATGTATAATATATATATT ATATATGTAATATATATTATATATAATATATGTAATATATATTATATATG TAATGTATATTATATATATTATATATGTAATGTATATTATATATAATATA TGTAATGTATATTATATATGTAATATATATTATATATATTATATATGTAA TATATATTATATATATTATATATGTAATATATATTATATATATTATATAT GTAATATATATTATATATATTATATATGTAATATATATTATATATATTAT ATATGTAATATATATTATATATATTATATATGTAATATATATTATATATA TTATATATGTAATATATATTATATATATTATATATGTAATATATATTATA TATATTATATATGTAATATATATTATATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP74_chr1_1916957_2008786	1929384	G G	GGAGGGGA others(1046): Show GGAGGGGACAGGTCTGGGGAGGCAGGAGAGAGGGTGAGGGGAGGCAGGGG AGATGGTGAGGGGAGGGAGGGAGGGGAGAGGGTGGGGGAGGGAGGGGAGA GGGTAGGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGAGGAGG GGAGAAGGGAGGGGACGCAGGGAGGGGAGAGGAAAGAGGAGGGAGGGGAG AGGGGAGGGAGGGGAGCGGGTAGGGGAGGGAAGGAGGGGAAATGGTATGG GAGGGAGGGAGGGGAGAGGGTAGGGGAGAGAGGGAGCAGAGGGGAAAGGG TAGGGGAGGGAAGGAAGGGAGAGGGTAGGGGAGGTAGGGAGGGAGGGGAG AGGGTAGGGGAGGGGAGAGGGTAGGGGAGGGAAGGAGGGGAGACGGTAGA GGAGGGAGGAGGGGAGAGGGTAGGGGAGGGAGGAAGAGGAGGGGAGAGGG TAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGGGAGAGGGTA GGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGG GAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAG GGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAG GGGAGAGGGTAGGGGAGGGAAGGAGGAGAGAGGGTAGAGGAGGGAGGAGG GGAGAGGGGAGGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGA GGAGAGGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGG AGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAG AGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGA GGAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGGAGGGCAGGAGGG GAGAGGGTAGGGAGGGAGGGGAGGAAGGGAGAGGGTAGGGAGGGGAGGAG GGGAGAGGGTAGGGAGGGAGAGGAGGGGAGAGGGTAGGGAGGGAGAGGAG GGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	278	0.0036	1053	c.328 others(1070): Show c.3289-503_3289-502insTCCCCTCCTCTCCCTCCCTACCCTCTCC CCTCCTCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTACCCTCTCCC TTCCTCCCCTCCCTCCCTACCCTCTCCCCTCCTGCCCTCCCTCCCTACCC TCTCCCCTCCTGCCCTCCCTCCCTCCTCTCTCCCTCCCTCCCTACCCTCT CCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTCCCTCCTCCTCTCCCTCCCTCCCTACCCTCT CCCCTCCTCCCCTCCCTCCCCTCTCCTCTCCCTCCCTACCCTCTCCCCTC CTCTTCCTCCCTCCCCTCCCCTCTCCCCTCCTCCCTCCTCTACCCTCTCT CCTCCTTCCCTCCCCTACCCTCTCCCCTCCTCTCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACC CTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTA CCCTCTCCCCTCCTCCCCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCC TCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCTTCCTCCCT CCCCTACCCTCTCCCCTCCTCCCTCCTCTACCGTCTCCCCTCCTTCCCTC CCCTACCCTCTCCCCTCCCCTACCCTCTCCCCTCCCTCCCTACCTCCCCT ACCCTCTCCCTTCCTTCCCTCCCCTACCCTTTCCCCTCTGCTCCCTCTCT CCCCTACCCTCTCCCCTCCCTCCCTCCCATACCATTTCCCCTCCTTCCCT CCCCTACCCGCTCCCCTCCCTCCCCTCTCCCCTCCCTCCTCTTTCCTCTC CCCTCCCTGCGTCCCCTCCCTTCTCCCCTCCTCTCCCTCCCTACCCTCTC CCCTCCTCTTCCTCCCTCCCCTACCCTCTCCCCTCCCTCCCCCACCCTCT CCCCTCCCTCCCTCCCCTCACCATCTCCCCTGCCTCCCCTCACCCTCTCT CCTGCCTCCCCAGACCTGTCCCCTC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	T T	TGTACGGT others(1046): Show TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCC CACTGAGGCGTGACAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGT GACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACGGCGCGTC CCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTAC GGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCG AGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGGG TGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGT CCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTA CGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCT GAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACG GCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCG TGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTC CCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGG GTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCG TCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGT ACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGC TGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGAC GGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCC GTGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	400	0.0025	1053	c.172 others(1070): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC ACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTG GGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGT GACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTC CCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTAC GGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTG AGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGG TGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGT CCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTA CGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCT GAGGGGTGACGGCGCGTCCCCGTGC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199905	A A	ACGGTCCC others(1046): Show ACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGC CGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCCGAGGGGTGAC GGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCC GTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGT CCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGG CGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGC GTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGG TACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCG CCGAGGCGTGACGGCGCTTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGA CGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCC CGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGG TCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAG GCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCG CGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC GCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTG ACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGACAGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGCTTACG GTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTGTGTTCGGTCCCCGCTGA GGGGTGACGGCGTGTCCCCGTGTGTACGGTCCCCGCCGAGGCGTGACGGC GTGTCCCCGTGGGTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTG TGTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0324 a0001c0001t0010g0325 a0001c0001t0001g0324 a0001c0001t0010g0325	2	400	0.0050	1053	c.172 others(1068): Show c.172-411_172-410insCCGAGGCGTGACGGCGCGTCCCCGTGGGTA CGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCC GAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACG GCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCG TGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTC CCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGC GTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCG TCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGT ACGGTCCCCGCCGAGGCGTGACGGCGCTTCCCCGTGGGTACGGTCCCCGC CGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGAC GGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCC GTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGT CCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGG CGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGC GTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGG TACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCG CTGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGA CAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCC CGTGCTTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTGTGTTCGG TCCCCGCTGAGGGGTGACGGCGTGTCCCCGTGTGTACGGTCCCCGCCGAG GCGTGACGGCGTGTCCCCGTGGGTACGGTCCCCGCTGAGGGGTGACAGTG GGTCCCTGTGTGTTCGGTCCCCG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHMP1A_chr16_89639435_89662708	89647826	C C	CGGGGTCG others(1046): Show CGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCG GTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAA AAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGC CGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGG AGACCCAGTGCGGGGATCGGTGGAGAAAAGGCCGCCGACGTGGACACCCA GTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGACACCCAGTGCGGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACAC CCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGT GGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAA GGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCG ACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAG ACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTG CGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCG GTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAA AAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGC CGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGG ACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG TGCG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	392	0.0026	1053	c.253 others(1068): Show c.253-496_253-495insCGCACTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCA CTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCAC CGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCG CACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGT CTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCC TTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTC TCCACCGATCCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCA CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CLPTM1L_chr5_1312752_1350099	1333251	C C	CGGATGAG others(1046): Show CGGATGAGGATAAGGGGGGGACTACTGTATACACACCGGATGAGGATAAG GGGGGACTACTGTATACACACCGGATGAGGATAAGGGGAGACTACTGTAT ACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGATA AGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGGACTACTG TAGACACACGGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATG AGGATAAGGGGGGGACTACTGTAGATACACGGGATGAGGATAAGGGGGGA CTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACAC CGGATGAGGATAAGGGGGGACTACTGTATACACACACGGGATGAGGATAA GGGGGGACTACTGTATACACACGGGATGAGGATGAGGGACTATTGTATAC ACACCAGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGAT AAGGGGGGACTACTGTATACACACCAGATGAAGATAAGGGGGGACTACTG TAGATACACGGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATG AGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGAC TACTGTAGATACACGGGATGAGGATAAGGGGGGACTACTGTATACACACC GGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGG GGGACTACTGTAAACACACGGGATGAGGATGAGGGACTATTGTATACACA CTAGATGAGGATAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAG GGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTAT ACACACCGGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGG ATAAGGGGGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTAC TGTATACACACCGGATGAGGATAAGGGGGGGACTACTGTATACACACCGG ATGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	370	0.0027	1053	c.891 others(1070): Show c.891+1037_891+1038insTCATCCGGTGTGTATACAGTAGTCCCCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTG GTGTGTATACAATAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAG TCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTC ATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTATCTAC AGTAGTCCCCCCTTATCCTCATCTAGTGTGTATACAATAGTCCCTCATCC TCATCCCGTGTGTTTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCT TATCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCCTCATCTGGTG TGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCTTCATC TGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACAGT AGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCA TCCCGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTATA CAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTT ATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGT ATCTACAGTAGTCCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCCCGTGTGTCTACAGTAGTCCCCCCCTTATCCTCAT CTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAA TAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGTCTCCCCTTATCCTC ATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATAC AGTAGTCCCCCCCTTATCCTCATCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
COL18A1_chr21_45400165_45518720	45500919	T T	TGTGTTGG others(1046): Show TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTCTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGT TGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT GTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0090 a0001c0004t0001g0090	1	292	0.0034	1053	c.268 others(1072): Show c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTCTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTG TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTT GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	G G	GGCAGAGA others(1046): Show GGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGGAGACGAGCAGA GAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATG GCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGG TGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATC CCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAG GGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGGAGAC GAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGA GGGAGATGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCA GAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAG ACGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19081.hp2 HG02074.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0252 a0001c0001t0006g0253	2	324	0.0062	1053	c.340 others(1070): Show c.340-1594_340-1593insGGAGGAGGCTGCCAGGTGGATCCCGGAG GGAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAG AGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCAGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGT GAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCA GGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGG AGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGA TGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	G G	GGCAGAGA others(1046): Show GGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGGAGACGAGCAGA GAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATG GCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGG TGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATC CCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAG GGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGGAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGA GGGAGATGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCA GAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAG ACGA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	324	0.0031	1053	c.340 others(1070): Show c.340-1594_340-1593insGGAGGAGGCTGCCAGGTGGATCCCGGAG GGAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAG AGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCAGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGT GAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCA GGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGG AGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGA TGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1046): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAG GAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGA GGAGGGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGG GAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAG GAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGG AGGGAGGAGGAGGAGGGAGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAG GAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAG GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGGGGA GGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0220 a0006c0010t0001g0220	1	252	0.0040	1053	c.118 others(1072): Show c.11806-562_11806-561insCTCCTCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCT CCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCC CTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCC CTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCCTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1046): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGG AGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGG GGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGG AGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAG GGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAG GGAGGAGGAGGGAGGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGG AGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAG GAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAG GAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGA GGAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0006 a0006	a0006c0051 a0006c0051	a0006c0051t0001 a0006c0051t0001	a0006c0051t0001g0182 a0006c0051t0001g0182	1	252	0.0040	1053	c.118 others(1072): Show c.11806-562_11806-561insCTCCTCCTCCTCCCCCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCC TCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCT CCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCCTCCCTCCCTCCTCCTCCCTCCTCCCTCCCTCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCC CTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCT CCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTC CCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCT CCTCCCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK8_chr9_209865_470255	400070	T T	TCACCATC others(1046): Show TCACCATCACCACCACCTCCACTATCACCACCACCACCACCTCCACCATC ACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCAC CTCCACTATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCA CCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCC ACCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCA CCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAC CACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCA CCATCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCA CCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACC ATCACCACCACCTCCACCATCACCACCACCACCACCTCCACCATCACCAC CTCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACC TCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACCACCACCTC CACCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCTC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0005 a0005	a0005c0160 a0005c0160	a0005c0160t0005 a0005c0160t0005	a0005c0160t0005g0129 a0005c0160t0005g0129	1	256	0.0039	1053	c.323 others(1070): Show c.3234+832_3234+833insTATCACCACCACCACCACCTCCACCATC ACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCAC CTCCACTATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCA CCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCC ACCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCA CCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAC CACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCA CCATCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCA CCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACC ATCACCACCACCTCCACCATCACCACCACCACCACCTCCACCATCACCAC CTCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACC TCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACCACCACCTC CACCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCTCCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DYSF_chr2_71448561_71691763	71618373	A A	ATGTGTGG others(1046): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTCTGGGGT ACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGTGTGT GTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGT GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG AGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG TGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT GTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG GTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG TGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTG TGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0004 a0007c0028t0004	a0007c0028t0004g0047 a0007c0028t0004g0047	1	192	0.0052	1053	c.441 others(1072): Show c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG TCTGGGGTACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGG TAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA GTGTGTGTGTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTA GAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGT GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAG TAGAGGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71618373	A A	ATGTGTGG others(1046): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT ACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGTGTGT GTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGT GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG AGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG TGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT GTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG GTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG TGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTG TGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0028 a0028	a0028c0068 a0028c0068	a0028c0068t0004 a0028c0068t0004	a0028c0068t0004g0100 a0028c0068t0004g0100	1	192	0.0052	1053	c.441 others(1072): Show c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG TGTGGGGTACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGG TAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA GTGTGTGTGTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTA GAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGT GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAG TAGAGGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618373	A A	ATGTGTGG others(1046): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTCTGGGGT ACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGTGTGT GTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGT GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG AGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG TGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT GTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG GTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG TGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTG TGTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0005 a0009c0029t0005	a0009c0029t0005g0084 a0009c0029t0005g0084	1	208	0.0048	1053	c.446 others(1072): Show c.4465-2159_4465-2158insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG TCTGGGGTACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGG TAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA GTGTGTGTGTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTA GAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGT GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAG TAGAGGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618373	A A	ATGTGTGG others(1046): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT ACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGTGTGT GTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGT GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG AGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG TGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT GTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA GAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG GTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG TGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTG TGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0031 a0031	a0031c0071 a0031c0071	a0031c0071t0005 a0031c0071t0005	a0031c0071t0005g0077 a0031c0071t0005g0077	1	208	0.0048	1053	c.446 others(1072): Show c.4465-2159_4465-2158insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG TGTGGGGTACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGG TAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA GTGTGTGTGTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTA GAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGT GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAG TAGAGGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72543424	T T	TGAGATAT others(1046): Show TGAGATATTATTATTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTT TTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGG ATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACA AGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCGCGGCCTTCC GCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCT TAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCAC CGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAG CACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGA ATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTT CTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTC CCGCCTTTCTATTCCACAATGCCGCCATTGTCATCCTGGCCCGTTCTCAA TGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCAGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGCGGCTGGCCGGGCAGG GGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0071 a0001c0002t0003g0071	1	104	0.0096	1053	c.915 others(1072): Show c.915+16028_915+16029insGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCTT CCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACC CCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACA ATGGCGGCATTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAG AAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACT TTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTT GATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGT CCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAA CAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAAT CTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGC CTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCT CCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCA AGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAGAAAAAA AAAAAAAAAAAAAAATAATAATATCTC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	8/21			chr2	TogoVar
GALR1_chr18_77244848_77282900	77252854	A A	ACACCACC others(1046): Show ACACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ATCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCAC CATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCA CCAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0028 a0001c0001t0044g0028	1	366	0.0027	1053	c.666 others(1070): Show c.666+1666_666+1667insCCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCAC CACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCATCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1046): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATATTATATATAATATATATATTATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATATAATATATATTATATATACA TTATATAATATATATTATATTATATATAATATATTATATAATATATATTA TATATTATACGTAATATATAATGTATATTATATATAATATACATTATATA ATGTATATTATATATAATATACATTATATAATGTATATTATATATAATAT ACATTGTATACAATGTATATTATATATAATATACATTGTATATAATGTAT ATTACATATAATATACATTATATAATGTATATTACATATAATATACATTG TATATAATGTATATTACATATAATATACATTGTATATAATGTATATTACA TATAATATACATTGTATATAATGTATATTACATATAATATACATTATATA TAATGTGTATATTACATGTAATATACATTATATATAATGTATATTATATG TAATATATACATTATATAATGTGTATATTATATGTAATATATACATTATA TATAATGTGTATATTATATGTAATATATACATTATATATAATGTATATAT TACATGTAATATATACATTATATATAATGTATATTATATGTAATATATAC ATTATATATAATGTATATTATATGTAATATATACATTATATATAATGTAT ATTATATGTAATATATACATTATATAATGTATACATTGTATATAATGTAT ATTA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19066.hp2 NA19085.hp1 NA18998.hp1 NA19066.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200	3	350	0.0086	1053	c.94- others(1066): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATATTATATA TAATATATATATTATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATTATATTATATATAATATA TTATATAATATATATTATATATTATACGTAATATATAATGTATATTATAT ATAATATACATTATATAATGTATATTATATATAATATACATTATATAATG TATATTATATATAATATACATTGTATACAATGTATATTATATATAATATA CATTGTATATAATGTATATTACATATAATATACATTATATAATGTATATT ACATATAATATACATTGTATATAATGTATATTACATATAATATACATTGT ATATAATGTATATTACATATAATATACATTGTATATAATGTATATTACAT ATAATATACATTATATATAATGTGTATATTACATGTAATATACATTATAT ATAATGTATATTATATGTAATATATACATTATATAATGTGTATATTATAT GTAATATATACATTATATATAATGTGTATATTATATGTAATATATACATT ATATATAATGTATATATTACATGTAATATATACATTATATATAATGTATA TTATATGTAATATATACATTATATATAATGTATATTATATGTAATATATA CATTATATATAATGTATATTATATGTAATATATACATTATATAATGTATA CATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1046): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATTTTATATATAATATATATATTATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATATAATATATATTATATATACA TTATATAATATATATTATATTATATATAATATATTATATAATATATATTA TATATTATACGTAATATATAATGTATATTATATATAATATACATTATATA ATGTATATTATATATAATATACATTATATAATGTATATTATATATAATAT ACATTGTATACAATGTATATTATATATAATATACATTGTATATAATGTAT ATTACATATAATATACATTATATAATGTATATTACATATAATATACATTG TATATAATGTATATTACATATAATATACATTGTATATAATGTATATTACA TATAATATACATTGTATATAATGTATATTACATATAATATACATTATATA TAATGTGTATATTACATGTAATATACATTATATATAATGTATATTATATG TAATATATACATTATATAATGTGTATATTATATGTAATATATACATTATA TATAATGTATATATTATATGTAATATATACATTATATATAATGTATATAT TACATGTAATATATACATTATATATAATGTATATTATATGTAATATATAC ATTATATATAATGTATATTATATGTAATATATACATTATATATAATGTAT ATTATATGTAATATATACATTATATAATGTATACATTGTATATAATGTAT ATTA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	350	0.0029	1053	c.94- others(1066): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATTTTATATA TAATATATATATTATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATTATATTATATATAATATA TTATATAATATATATTATATATTATACGTAATATATAATGTATATTATAT ATAATATACATTATATAATGTATATTATATATAATATACATTATATAATG TATATTATATATAATATACATTGTATACAATGTATATTATATATAATATA CATTGTATATAATGTATATTACATATAATATACATTATATAATGTATATT ACATATAATATACATTGTATATAATGTATATTACATATAATATACATTGT ATATAATGTATATTACATATAATATACATTGTATATAATGTATATTACAT ATAATATACATTATATATAATGTGTATATTACATGTAATATACATTATAT ATAATGTATATTATATGTAATATATACATTATATAATGTGTATATTATAT GTAATATATACATTATATATAATGTATATATTATATGTAATATATACATT ATATATAATGTATATATTACATGTAATATATACATTATATATAATGTATA TTATATGTAATATATACATTATATATAATGTATATTATATGTAATATATA CATTATATATAATGTATATTATATGTAATATATACATTATATAATGTATA CATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar

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Search Results (Total: 10000 hits)