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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Select column to sort.

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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
SYNGR2_chr17_78163581_78177720	78175213	A A	AGGTGGGT others(529): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAGT TTTATTTCAGACATGGAGTAAAAAAAAAAATTGATTCGATCTAAATTTCC TAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTAC AGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATGT AGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCCC TTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACCA AACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTTT TTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGCGTTT CTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGT CAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGAC CCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01975.hp2 HG01257.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0003 a0001c0001t0001g0015	2	450	0.0044	536	c.32 others(547): Show c.3277_*3278insGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTT AGCACGGGTGAAAGTTTTATTTCAGACATGGAGTAAAAAAAAAAATTGAT TCGATCTAAATTTCCTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTA AAACTATTCAATTACAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCA ACTTTCTTACTATGTAGCTTTATCCTGGAACCAAGAGCCATCCCTACCAT GTCAAGTGTAGGCCCTTAATTAGAAATGATAAGTAACATTATTTGGGGAG TTAATCAGAAAACCAAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTT CTTCTTTCTTTTTTTTTTTTTTTTAATTTATTTATTTTTTTTTTATTGAT CATTCTTGGGCGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAA TAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTT TCCTAGGCAGAGGACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCC TG	SYNGR2	ENSG00000108639.8	transcript	ENST00000225777.8	protein_coding		2494		chr17	TogoVar
TCF3_chr19_1604292_1657615	1628013	A A	ACGGGGGT others(529): Show ACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGG GAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGC GGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGA GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0054 a0002c0001t0054	a0002c0001t0054g0157 a0002c0001t0054g0157	1	352	0.0028	536	c.299 others(551): Show c.299-588_299-587insAGTTCTGCTGTCCCCTTCCCGCCTCACCCC CGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCC CCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCC CCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGT CCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACC CCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGT CCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCA CCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTG TCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATATAA others(529): Show ATATATAATATACCTATTATATACATTATATATAATATACCTATTATATG CATTATATATAATATACCTATTATATGCATTATATATAATATACCTATTA TATGCATTATATATAATATACCTATTATATGCATTATATATAATATACCT ATTATATGCATTATATAATATATTATATATAATATGCATATTATATGTAT TATATATTATATATTATATATATAATATACATATTATATGTATTATATAT TATATATTATATATATAATATACATATTATATGTATTATATATTATATAT AATATACATATTATATATTATATATTATATACATATTATATATTATATAT TATATACATATTATATATTATATACATATTATATATTATATATTATATAC ATATTATACATTATATATATCTAAAATATATAATACACATTATATATTAT ATAATACACATTATATATAATATATAATACACATTATATATTATATATAA TACACATTATATATTATATATAATACACATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0304 a0001c0001t0009g0304	1	360	0.0028	536	c.62 others(547): Show c.6210_*6211insATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATTATATATTATATATAATGTGTAT TATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTATAA TATGTATATAATATATAATATATAATATGTATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATAATATATAATATATAATATGTAT ATTATATATAATATATAATACATATAATATGTATATTATATATATAATAT ATAATATATAATACATATAATATGTATATTATATATATAATATATAATAT ATAATACATATAATATGCATATTATATATAATATATTATATAATGCATAT AATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGC ATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATA ATGCATATAATAGGTATATTATATATAATGTATATAATAGGTATATTATA TA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3376		chr20	TogoVar
THNSL2_chr2_88165346_88191627	88181102	C C	CTCTCTCT others(529): Show CTCTCTCTCTCTCTCTCTCTCTCTCCTCTCCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	54	0.0185	536	c.803 others(553): Show c.803-1597_803-1596insTCTCTCTCTCTCTCTCTCTCTCTCCTCT CCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTC TCTCTCTCTCTCCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTC CTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTC TCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCT CTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCT CTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCCT	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8			chr2	TogoVar
TK1_chr17_78169091_78192052	78175213	A A	AGGTGGGT others(529): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAGT TTTATTTCAGACATGGAGTAAAAAAAAAAATTGATTCGATCTAAATTTCC TAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTAC AGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATGT AGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCCC TTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACCA AACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTTT TTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGCGTTT CTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGT CAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGAC CCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01975.hp1 HG01257.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0068 a0001c0001t0002g0072	2	446	0.0045	536	c.394 others(549): Show c.394-45_394-44insCAGGGACACAAACACTGCGGAAGGCCAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCT GCGAGAAACGCCCAAGAATGATCAATAAAAAAAAAATAAATAAATTAAAA AAAAAAAAAAAAGAAAGAAGAAAGAAAACACAAAACAAAAACGGAGCTTT TTGTTTGGTTTTCTGATTAACTCCCCAAATAATGTTACTTATCATTTCTA ATTAAGGGCCTACACTTGACATGGTAGGGATGGCTCTTGGTTCCAGGATA AAGCTACATAGTAAGAAAGTTGCAGCTTTAAAGACTCGTAAAACTAATCA GTTCTGTAATTGAATAGTTTTAACAGTATCTTTCTTCCTATTTAGCCTCA TCTTAGGAAATTTAGATCGAATCAATTTTTTTTTTTACTCCATGTCTGAA ATAAAACTTTCACCCGTGCTAAAAAAAAAAAAAAAAAAAAAAGAAAAACC CACC	TK1	ENSG00000167900.12	transcript	ENST00000301634.12	protein_coding	5/6			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747937	G G	GCTGGGGT others(529): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0102 a0001c0001t0011g0102	1	314	0.0032	536	c.189 others(551): Show c.189-376_189-375insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNS1_chr2_217794791_218007995	217809316	C C	CATGGATG others(529): Show CATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGCATGGATGGATGGATGGATGGATGCATGGATGGATGGATG GATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGCATGGATGGA TGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGCATGGATGGATGGATAGGTGCATGGATGGA TGGATGGATGGATGGATGGATGGATGGATAGGTGCATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGA TGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATG CATGGATGGATGGATGGATGGATGCATGGATGGATGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0068 a0002c0003t0068	a0002c0003t0068g0155 a0002c0003t0068g0155	1	244	0.0041	536	c.527 others(553): Show c.5273+506_5273+507insCCATCCATCCATGCATCCATCCATCCAT CCATCCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCACCTATCCATCCATCCATGCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATCCATCCATGCATCCATCCATGCACCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCACCTATCCAT CCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCCATGC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT CCATCCAT	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TNS1_chr2_217794791_218007995	217809316	C C	CATGGATG others(529): Show CATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGCATGGATGGATGGATGGATGGATGCATGGATGGATGGATG GATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGCATGGATGGA TGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGCATGGATGGATGGATAGGTGCATGGA TGGATGGATGGATGGATGGATGGATGGATAGGTGCATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATG GATGCATGGATGGATGGATGGATGGATGCATGGATGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02258.hp2 HG02486.hp2	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0031 a0017c0026t0031	a0017c0026t0031g0218 a0017c0026t0031g0219 a0017c0026t0031g0218 a0017c0026t0031g0219	2	244	0.0082	536	c.527 others(553): Show c.5273+506_5273+507insCCATCCATGCATCCATCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCACCTATCCATCCATCCATCCATCC ATCCATCCATCCATGCACCTATCCATCCATCCATGCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATCCATCCATGCATCCATCCATGCACCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCACCTATCCAT CCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCCATGC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT CCATCCAT	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TNS1_chr2_217794791_218007995	217809316	C C	CATGGATG others(529): Show CATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGCATGGATGGATGGATGGATGGATGCATGGATGGATGGATG GATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGCATGGA TGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGCATGGATGGATGGATAGGTGCATGGA TGGATGGATGGATGGATGGATGGATGGATAGGTGCATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGA TGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGCATGGATGGATGGATGGATGGATGCATGGATGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0083 a0002c0083	a0002c0083t0004 a0002c0083t0004	a0002c0083t0004g0122 a0002c0083t0004g0122	1	244	0.0041	536	c.527 others(553): Show c.5273+506_5273+507insCCATCCATGCATCCATCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCACCTATCCATCCATCCATCCATCC ATCCATCCATCCATGCACCTATCCATCCATCCATGCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATCCATCCATGCATCCATCCATGCACCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCACCTATCCAT CCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCCATGC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT CCATCCAT	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TNS1_chr2_217794791_218007995	217809316	C C	CATGGATG others(529): Show CATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGCATGGATGGATGGATGGATGGATGCATGGATGGATGGATG GATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGCA TGGATGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATAGGTGCA TGGATGGATGGATGGATGGATGGATGGATGGATAGGTGCATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATG GATGCATGGATGGATGGATGGATGGATGCATGGATGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02273.hp1 HG00597.hp1 HG02273.hp1	a0004 a0004	a0004c0004 a0004c0057 a0004c0004 a0004c0057	a0004c0004t0002 a0004c0057t0001 a0004c0004t0002 a0004c0057t0001	a0004c0004t0002g0102 a0004c0057t0001g0140 a0004c0004t0002g0102 a0004c0057t0001g0140	2	244	0.0082	536	c.527 others(553): Show c.5273+506_5273+507insCCATCCATGCATCCATCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCACCTATCCATCCATCCATCCATCCATCC ATCCATCCATGCACCTATCCATCCATCCATGCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATCCATCCATGCATCCATCCATGCACCTATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCACCTATCCAT CCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCCATGC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT CCATCCAT	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TNS1_chr2_217794791_218007995	217809316	C C	CATGGATG others(529): Show CATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGATGGATGGATGCATGGATGGATG GATGGATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGA TGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGCATGGA TGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGCATGGATGGATGGATAGGTGCATGGA TGGATGGATGGATGGATGGATGGATGGATAGGTGCATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGA TGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATGGATG CATGGATGGATGGATGGATGGATGCATGGATGGATGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01258.hp1 others(10): Show HG00735.hp1 HG01106.hp1 HG01258.hp1 HG01346.hp1 HG01928.hp2 HG01978.hp2 HG02004.hp1 HG02083.hp1 NA18953.hp2 NA18975.hp1 NA18975.hp2 NA18999.hp1 NA19007.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0002c0003 a0002c0025 others(2): Show a0002c0001 a0002c0003 a0002c0025 a0002c0109 a0004c0091	a0002c0001t0002 a0002c0001t0013 a0002c0001t0044 others(6): Show a0002c0001t0002 a0002c0001t0013 a0002c0001t0044 a0002c0001t0063 a0002c0003t0002 a0002c0003t0018 a0002c0025t0001 a0002c0109t0015 a0004c0091t0001	a0002c0001t0002g0098 a0002c0001t0002g0176 a0002c0001t0002g0185 others(10): Show a0002c0001t0002g0098 a0002c0001t0002g0176 a0002c0001t0002g0185 a0002c0001t0002g0186 a0002c0001t0002g0204 a0002c0001t0013g0099 a0002c0001t0044g0182 a0002c0001t0063g0066 a0002c0003t0002g0205 a0002c0003t0018g0056 a0002c0025t0001g0132 a0002c0109t0015g0105 a0004c0091t0001g0198	13	244	0.0533	536	c.527 others(553): Show c.5273+506_5273+507insCCATCCATCCATGCATCCATCCATCCAT CCATCCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCACCTATCCATCCATCCATCCATCC ATCCATCCATCCATGCACCTATCCATCCATCCATGCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATCCATCCATGCATCCATCCATGCACCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCC ATCCATCCATCCATCCATCCATGCATCCATCCATGCACCTATCCATCCAT CCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCCATGCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT CCATCCAT	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TNS1_chr2_217794791_218007995	217809316	C C	CATGGATG others(529): Show CATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGCATGGATG GATGGATGGATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGA TGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGCA TGGATGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATAGGTGCA TGGATGGATGGATGGATGGATGGATGGATGGATAGGTGCATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATG GATGCATGGATGGATGGATGGATGGATGCATGGATGG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0039 a0004c0011t0001g0039	1	244	0.0041	536	c.527 others(553): Show c.5273+506_5273+507insCCATCCATGCATCCATCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCACCTATCCATCCATCCATCCATCCATCC ATCCATCCATGCACCTATCCATCCATCCATGCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATCCATCCATGCATCCATCCATGCACCTATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCC ATCCATCCATCCATCCATGCATCCATCCATGCACCTATCCATCCATCCAT CCATCCATCCATCCATGCATCCATCCATCCATCCATCCATGCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT CCATCCAT	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(529): Show ATATTATATATACATTATATATATTATATATTATATATACATTATATATA TTATATATTATATATACATTATATATATTATATATTATATATACATTATA TATATTATATATTATATATACATTATATATATTATATATTATATATACAT TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATATTATATATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	224	0.0045	536	c.102 others(555): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATATATAATATATATAATGTATAT ATAATATATAATATATATAATGTATATATAATATATAATATATATAATGT ATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930835	G G	GTTAGGGA others(529): Show GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGG AGGCAGGGATTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTATGGAGGCAGGGATTAGGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	536	c.47 others(547): Show c.4755_*4756insTCCCTGCCTCCCTAATCCCTGCCTCCATAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCC TAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATCCCTG CCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTA ACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGG CCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCTC CCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCT AA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4534		chr11	TogoVar
TTN_chr2_178739405_178812423	178757157	A A	ACAGTAAG others(529): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAG TAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACT TTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0229 a0005c0005t0003g0229	1	370	0.0027	536	c.103 others(557): Show c.10303+1826_10303+1827insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAA GTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTAC TGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAG TATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAG TATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
UCN3_chr10_5359966_5379692	5370514	T T	TGCGTGTG others(529): Show TGCGTGTGTGTATGCGTGTGTATATGTGTGTGTGTATGTGTGTGTGTATG TGTGTATATGTGTGTGTATGTGTGTATGTGTGTATATGTGTGTGTATGTG TGTGTGTATATGCGTGTGTATATGTGTATGTGTGTGTATGTGTGTGTATA TGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTATG TGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATGTGTGTGTATATG TGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTA TATGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTATATGTGTG TGTATGTGTGTGTGTATGTGTGTGTGTGTATGCGTGTGTATGCGTGTGTG TATGTGTGTGTATGCGTGTGTGTATGCGTGTGTATATGCGTGTGTATGTG TGTGTATGCGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTG TATATGTGTGTGTATGTGTGTGTATATGTGTGTATGC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0399 a0001c0002t0005g0399	1	468	0.0021	536	c.-6- others(551): Show c.-6-3200_-6-3199insCGTGTGTGTATGCGTGTGTATATGTGTGTG TGTATGTGTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTATGTGTG TATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGTGTATGTG TGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTATGTG TGTGTATATGTGTGTATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTG TGTATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTA TGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTA TATGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTGTATG CGTGTGTATGCGTGTGTGTATGTGTGTGTATGCGTGTGTGTATGCGTGTG TATATGCGTGTGTATGTGTGTGTATGCGTGTGTGTATATGTGTGTGTATG TGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTG TATGCG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(529): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0183 a0001c0001t0047g0183	1	250	0.0040	536	c.82+ others(551): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATATTTATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATT TATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAG TTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(529): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0177 a0001c0001t0034g0177	1	250	0.0040	536	c.82+ others(551): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATATTTATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATT TATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAG TTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(529): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCTTCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCTCTCCCCTCTCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTC CTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTATTCCTTCCC CTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTCCC CTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	64	0.0156	536	c.104 others(555): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCTTCCCTCTCCCCTCCCCCCTCCCCTCCCCTCC CTCTCCCCTCTCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCTCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CTCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTCCC CTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCT CTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTC CCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(529): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCC CTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTC CCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0014 a0014	a0014c0033 a0014c0033	a0014c0033t0004 a0014c0033t0004	a0014c0033t0004g0197 a0014c0033t0004g0197	1	246	0.0041	536	c.53- others(549): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCC TCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCC CTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCT CTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCTCCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCC CCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZFPM2_chr8_105313438_105809539	105380894	A A	ATATAATA others(529): Show ATATAATATATAATATATATGTTATATATATTATAATATATATAACATAT AATATATATGTTATATATATTATAATATATATAACATATAATATATATGT TATATATATTATAATATATATAACATATAATATATATGTTATATATATTA TAATATATATAACATATAATATATATGTTATATATATTATAATATATATA ACATATAATATATATGTTATATATATTATAATATATATAACATATAATAT ATATGTTATATATATTATAATATATATAACATATAATATATATGTTATAT ATATTATAATATATATAACATATAATATATATGTTATATATATTATAATA TATATAACATATAATATATATGTTATATATATTATAATATATATAACATA TAATATATATGTTATATATATTATATATATATAATATATAATATATATGT TATATATATTATAATATATATAATATATAATATATATGTTATATATATTA TAATATATATAATATATAATATATATGTTATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	92	0.0109	536	c.41- others(553): Show c.41-38207_41-38206insACATATAATATATATGTTATATATATTA TAATATATATAACATATAATATATATGTTATATATATTATAATATATATA ACATATAATATATATGTTATATATATTATAATATATATAACATATAATAT ATATGTTATATATATTATAATATATATAACATATAATATATATGTTATAT ATATTATAATATATATAACATATAATATATATGTTATATATATTATAATA TATATAACATATAATATATATGTTATATATATTATAATATATATAACATA TAATATATATGTTATATATATTATAATATATATAACATATAATATATATG TTATATATATTATAATATATATAACATATAATATATATGTTATATATATT ATATATATATAATATATAATATATATGTTATATATATTATAATATATATA ATATATAATATATATGTTATATATATTATAATATATATAATATATAATAT ATATGTTATATATATTATAATATATAATATATATGTTATATATATTATAA TATATATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF888_chr19_52899415_52928428	52919934	T T	TCCGGGAG others(529): Show TCCGGGAGGGAGGTGGGGGTGGTCAGCCCCCCGCCCGGCCAGCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGTCCGGCCGCCCCTACTGGGAAGTGAGG ACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCTGCCCGGCCAGCCGCCCAGTCTGGGAGGGAGGTGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02257.hp2 HG02615.hp1 others(7): Show HG00735.hp2 HG02257.hp2 HG02615.hp1 HG02723.hp1 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03453.hp1 HG03669.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0003c0007	a0001c0001t0002 a0001c0004t0007 a0001c0004t0021 others(2): Show a0001c0001t0002 a0001c0004t0007 a0001c0004t0021 a0002c0003t0011 a0003c0007t0022	a0001c0001t0002g0114 a0001c0004t0007g0115 a0001c0004t0007g0252 others(7): Show a0001c0001t0002g0114 a0001c0004t0007g0115 a0001c0004t0007g0252 a0001c0004t0021g0203 a0001c0004t0021g0204 a0002c0003t0011g0142 a0002c0003t0011g0236 a0002c0003t0011g0368 a0003c0007t0022g0137 a0003c0007t0022g0169	10	426	0.0235	536	c.-17 others(553): Show c.-177-998_-177-997insTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCGGG CAGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCTC ACCTCCCGGACGGGGCGCTGGCCGGGCGGGGGGCTGACCACCCCCACCTC CCTCCCGG	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393210	A A	ATATAAAT others(529): Show ATATAAATATATATATATTTATATATATATAAATATATATATATTTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATATTTAT ATATATAAATATATATATATAAATATATATATATTTATATATATATATTT ATATATATAAATATATATATTTATATATATATTTATATATATATAAATAT ATATATATAAATATATATATATAAATATAAATAAATATATATTTATATAT ATAAATAAATATATATTTATATATATATTTATATATATATAAATATATAT ATATATTTATATATATAAATATATATATATTTATATATATATAAATATAT ATATATTTTATATATATATATAAATATATATATATTTTATATATATATAT AAATATATATATATTTTATATATATATATAAATATATATATATATTTTAT ATATATATATAAATATATATATATATTTTATATATATATAAATATATATA TATATTTTATATATATATATAAATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19070.hp1 NA18977.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0059 a0001c0001t0002g0060	2	400	0.0050	536	c.532 others(551): Show c.532+438_532+439insAATATATATATATATTTATATATATATATA AAATATATATATATATTTATATATATATAAAATATATATATATATTTATA TATATATATAAAATATATATATATATTTATATATATATATAAAATATATA TATATTTATATATATATATAAAATATATATATATTTATATATATATATAA AATATATATATATTTATATATATATAAATATATATATATTTATATATATA AATATATATATATATTTATATATATATAAATATATATATAAATATATATT TATTTATATATATAAATATATATTTATTTATATTTATATATATATATTTA TATATATATATTTATATATATATAAATATATATATAAATATATATATTTA TATATATAAATATATATATATAAATATATATATATTTATATATATATATT TATATATATAAATATATATATATTTATATATATATAAATATATATATATT TATATATATATAAATATATATATATTTATATATATATAAATATATATATA TTTATA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(530): Show CCTTCCTTCCTTCCTTCCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	249	0.0040	537	c.49- others(552): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC2_chr10_99777640_99857594	99838383	A A	ACCCCCCC others(530): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCGGGCGGAGGGCTGAGCCCCCCATCTCCCTCCCGGAC GGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGG GGGCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGGCGGGGG GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0254 a0002c0003t0001g0254	1	336	0.0030	537	c.361 others(556): Show c.3614+2132_3614+2133insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGAGGGCTGAGCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGG CTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGGCTGACCCCCCACC TCCCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGGCCGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACTN2_chr1_236681499_236769631	236714890	T T	TACCACTG others(530): Show TACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGT GTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGC TTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATA TGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAG ATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACA GATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGT GTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATA GCTTCATTCCTCACTGTGTGTTTATGTATACACAGATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG01258.hp1 others(3): Show HG00140.hp2 HG00738.hp2 HG01258.hp1 HG01496.hp2 HG01516.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0002t0002	a0001c0001t0001g0018 a0001c0001t0001g0110 a0001c0001t0003g0105 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0110 a0001c0001t0003g0105 a0001c0001t0012g0019 a0001c0001t0012g0109 a0001c0002t0002g0017	6	344	0.0174	537	c.127 others(554): Show c.127-2793_127-2792insCACTGTGTGTTTATGTATACACAGATAC CACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTT TATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTC ATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGC AAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATA CCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGT TTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTT CATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATAT GCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGA TACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGT GTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGC TTCATTCCT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGAP1_chr2_235489043_236136793	235802998	G G	GTGATGGT others(530): Show GTGATGGTTGTGGTTGTGATGGTGATGGTGATGGCTGTGGTGATGATGGT TGTGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGA TTGTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTG ATGGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGT GGTGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGG TTGTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTT GTGGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGAT GATGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGG TTGTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTG ATGGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGT GATGATGGTTGTGATGGTGGTGATGGTTGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02615.hp1 others(2): Show HG01884.hp2 HG02280.hp2 HG02615.hp1 HG03041.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0014 a0001c0010t0001	a0001c0001t0002g0046 a0001c0001t0003g0036 a0001c0001t0009g0074 others(2): Show a0001c0001t0002g0046 a0001c0001t0003g0036 a0001c0001t0009g0074 a0001c0002t0014g0076 a0001c0010t0001g0032	5	98	0.0510	537	c.957 others(554): Show c.957+3499_957+3500insATGGTGATGGCTGTGGTGATGATGGTTG TGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATT GTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGAT GGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGG TGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGGTT GTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGT GGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGA TGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTT GTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGAT GGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGA TGATGGTTGTGATGGTGGTGATGGTTGTGATGGTGATGATGGTTGTGGTT GTGATGGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235803007	G G	GTGGTTGT others(530): Show GTGGTTGTGATGGTGATGGTGATGGCTGTGGTGATGATGGTTGTGATGGT GGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATTGTGGTTG TGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGATGGTGATG ATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGGT TGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGGTTGTGATGA TGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGTGGTTGTG ATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGATGGTTGT GATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTTGTGATGG TGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGATGGTTGTG GTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGT TGTGATGGTGATGATGGTTGTGATGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG02135.hp1 others(2): Show HG01106.hp1 HG01123.hp2 HG02135.hp1 NA19011.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0020 a0001c0006 a0002c0020	a0001c0006t0001 a0001c0006t0006 a0001c0006t0033 others(2): Show a0001c0006t0001 a0001c0006t0006 a0001c0006t0033 a0001c0006t0035 a0002c0020t0001	a0001c0006t0001g0016 a0001c0006t0006g0019 a0001c0006t0033g0087 others(2): Show a0001c0006t0001g0016 a0001c0006t0006g0019 a0001c0006t0033g0087 a0001c0006t0035g0044 a0002c0020t0001g0022	5	98	0.0510	537	c.957 others(554): Show c.957+3499_957+3500insATGGTGATGGCTGTGGTGATGATGGTTG TGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATT GTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGAT GGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGG TGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGGTT GTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGT GGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGA TGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTT GTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGAT GGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGA TGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGGTGGTGATGGTT GTGATGGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(530): Show ATATAGTATATATATTCTGTATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT AGTATATATATTCTGTATACAGAATATATAGTATATATATTCTGTATACA GAATATATAGTATATATATTCTGTATACAGAATATATATAGTATATATAT TCTGTATACAGAATATATATACTATATATATTCTATATACAGAATATATA TACTATATATATTCTATATATAGAATATATATAGTATATATATTCTGTAT ATAGAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATA TATATTCTGTATATAGAATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	236	0.0042	537	c.409 others(556): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATTCTATATATAGA ATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATAT TCTGTATACAGAATATATATACTATATATATTCTGTATACAGAATATATA TACTATATATTCTGTATACAGAATATATATACTATATATTCTGTATACAG AATATATATACTATATATTCTGTATACAGAATATATATACTATATATATT CTGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATAT AGTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATA TAGAATATATATACTATATATATTCTGTATATAGAATATATATACTATAT ATATTCTGTATATAGAATATATATACTATATATATTCTGTATACAGAATA TATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(530): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGAAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGAAGAAGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAA GGGGGAGTGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGG GAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGC GGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGG AGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAG GAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGA GGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02280.hp2 HG02818.hp2 others(7): Show HG01167.hp1 HG02280.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp1	a0003 a0004 a0003 a0004	a0003c0021 a0004c0005 a0003c0021 a0004c0005	a0003c0021t0001 a0004c0005t0001 a0003c0021t0001 a0004c0005t0001	a0003c0021t0001g0005 a0004c0005t0001g0005 a0004c0005t0001g0009 others(1): Show a0003c0021t0001g0005 a0004c0005t0001g0005 a0004c0005t0001g0009 a0004c0005t0001g0023	10	300	0.0333	537	c.-70 others(546): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGAAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGACGGAGGAGGA GGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGG GGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGG GGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGG AAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAA GGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGG GGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAA G	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BTNL9_chr5_181035266_181066521	181045866	T T	TTCCTCCA others(530): Show TTCCTCCACCATCTCCCCAGCCCTCAATACCTCCTCCACCATCTCCCCAG CCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCA TCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACC TCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGC CTCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCAT CTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCT CCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCC TCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCAT CTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCT CCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCC CCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01978.hp2 HG01515.hp1 HG01517.hp2 HG01978.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0125 a0001c0005t0004g0126 a0001c0005t0004g0251 a0001c0005t0004g0125 a0001c0005t0004g0126 a0001c0005t0004g0251	3	390	0.0077	537	c.109 others(552): Show c.109+290_109+291insTCAATACCTCCTCCACCATCTCCCCAGCCC CCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCT CCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCC TCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTC CAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCTC CCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCT CCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTCC AACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTC CCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCT CCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCCCA ACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCC CCAGCCC	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGAC others(530): Show CCTCTGACCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCCTCCTCCCCCTCTTC CCCCTCCTCCCCCCACTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTTC CCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACT CCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCC CCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCT TCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCC TCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0090 a0003c0004t0001g0090	1	328	0.0031	537	c.178 others(552): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGGGGAGAGGAGTGGGGGAGGAGGGGAG AGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGGAGTGGGGAAGGAGT GGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGG AGTGGGGGGAAGAGGGGAGAGGAGTGGGGAGGAGGGAGATGAGTGGGGGG AGGAGGGGGAAGAGGGGGAGGAGGGGGACAGGAGTGGGGGAGGAGTGGGA GGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGG AAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGGAGGGGGAGGAGTGG GAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATGAGTAGGGGAAGGAG TCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGGGGAAGGGGGAGGAG GTCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGAC others(530): Show CCTCTGACCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTTC CCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACT CCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCC CCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCT TCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCC TCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0091 a0003c0004t0001g0091	1	328	0.0031	537	c.178 others(552): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGGGGAGAGGAGTGGGGGAGGAGGGGAG AGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGGAGTGGGGAAGGAGT GGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGG AGTGGGGGGAAGAGGGGAGAGGAGTGGGGAGGAGGGAGATGAGTGGGGGG AGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGAGTGGGGGAGGAGTGGGA GGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGG AAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGGAGGGGGAGGAGTGG GAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATGAGTAGGGGAAGGAG TCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGGGGAAGGGGGAGGAG GTCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
CACNA1C_chr12_2047987_2702950	2539219	T T	TAAAGATG others(530): Show TAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGT TTAAGGACTTAACGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACT TAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG CTTCATAAAGATGCAGGCAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0080 a0001c0001t0024g0080	1	104	0.0096	537	c.139 others(558): Show c.1391-10648_1391-10647insTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAACGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD99_chrX_2686295_2746309	2724037	G G	GGGAAGGA others(530): Show GGGAAGGAGGGAGGGAAGAAAGGAAAAGAGGGAAAAGGGAGGGAAGGAAG GAAAAGAAGGAGGGAAAAAAGGAAGGAAGGGAGGAGGAAGGAAGGAAAAG AAAGAGGAAGGGAGGGAGGGAAAAAAGGAAGGAAGGAGGAAGGAAGGAAA GGAAGGGAGGAAGGAAGGACAAGAAAGACGGAGGGAAGGAAAAGAAGGAA GGGAGGAGGAAGGAAAGGAAGGGAAGGAAGGGAGTGAAGGGAAAGGGAGG GAGGGAAGGAAGGAAGGAAAGGAGAAAGGGAAACAAGAAAAGGAGGAAAG GAAGGAAAGAGGGAAGGAGAGAGGAGAGACAGGAGAGAGGGAGGGGCGAG GACAATAGCTTCGTATTTTAGTGTCTCTCAATTCTCAGGGACTTTGCTTC TAGCAAAATGCCTGGTTTTAAGCAACTTCTTTGGCAGAAGAGATACTAAT TTGGCCAAAGATTTTAACACCCGTTTGCCATTTTAATCACTGATAAAATG TGGATTCTTAAAATATGCAACGAATGTTTGTGGAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01993.hp2 HG02080.hp2 others(12): Show HG01981.hp2 HG01993.hp2 HG02080.hp2 HG02165.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18963.hp2 NA18969.hp1 NA18979.hp1 NA18981.hp2 NA19064.hp2 NA19077.hp2 NA19084.hp1 NA19084.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0007c0016	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0007c0016t0001	a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0001g0056 others(11): Show a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0218 a0001c0002t0001g0122 a0001c0002t0001g0150 a0002c0003t0001g0003 a0002c0003t0001g0151 a0002c0003t0001g0208 a0007c0016t0001g0132	15	228	0.0658	537	c.361 others(552): Show c.361+674_361+675insGAAGGAGGGAGGGAAGAAAGGAAAAGAGGG AAAAGGGAGGGAAGGAAGGAAAAGAAGGAGGGAAAAAAGGAAGGAAGGGA GGAGGAAGGAAGGAAAAGAAAGAGGAAGGGAGGGAGGGAAAAAAGGAAGG AAGGAGGAAGGAAGGAAAGGAAGGGAGGAAGGAAGGACAAGAAAGACGGA GGGAAGGAAAAGAAGGAAGGGAGGAGGAAGGAAAGGAAGGGAAGGAAGGG AGTGAAGGGAAAGGGAGGGAGGGAAGGAAGGAAGGAAAGGAGAAAGGGAA ACAAGAAAAGGAGGAAAGGAAGGAAAGAGGGAAGGAGAGAGGAGAGACAG GAGAGAGGGAGGGGCGAGGACAATAGCTTCGTATTTTAGTGTCTCTCAAT TCTCAGGGACTTTGCTTCTAGCAAAATGCCTGGTTTTAAGCAACTTCTTT GGCAGAAGAGATACTAATTTGGCCAAAGATTTTAACACCCGTTTGCCATT TTAATCACTGATAAAATGTGGATTCTTAAAATATGCAACGAATGTTTGTG GAAAAAG	CD99	ENSG00000002586.20	transcript	ENST00000381192.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDH4_chr20_61247261_61945617	61920102	T T	TGTGATTG others(530): Show TGTGATTGTGTGGAAGCGTGGTGTGATTGTGTGGAAGCATGGTATCGTGA TTGTGGAAGCGTGGTATCGTGGCGATTGTGTGGAAGCGTGGTGTCGCAGT GATTGCGTGGAAGCATGTTGTGATTGTGTGGAAGCGTGGTATCGTGATTG TGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCATGTCGTGATTGTGTGG AAGTGTGATGTCACGGTGATTGCGTGGAAGCGTGTTGTGATTGGAAGCGT GGTATCGTGATTGGAAGTGTGGTGTCACGCTGATTGCATGGAAGCGTGTT GTGATTGTGTGGAAGCGTGATATCGCAGTGATTGTGTGGAAGCGTGGTGT CACGGTGATTGTGTGGAAGCGTGGTGTCACGGTGATTGCGTGGAAGCGTG TTGTGATTGTGTGGAAGCGTGGTATCGTGATTGGAAGCGTGGTGTTGCGG TGATTGCATGGAAGCATGTTGTGATTGTGTGGAAGCATGGTATCGTGATT GTCTGGAAGCATGGTGTCATGGTGATTGGAAGTGTGTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp2 HG02109.hp1 others(4): Show HG01123.hp2 HG01255.hp2 HG02109.hp1 HG02145.hp1 HG02647.hp2 HG02922.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0017 a0001c0001t0038 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0038 a0001c0007t0010 a0001c0007t0046	a0001c0001t0002g0078 a0001c0001t0017g0065 a0001c0001t0038g0092 others(4): Show a0001c0001t0002g0078 a0001c0001t0017g0065 a0001c0001t0038g0092 a0001c0007t0010g0018 a0001c0007t0010g0037 a0001c0007t0010g0044 a0001c0007t0046g0066	7	106	0.0660	537	c.137 others(556): Show c.1375-3342_1375-3341insTGTGGAAGCGTGGTGTGATTGTGTGG AAGCATGGTATCGTGATTGTGGAAGCGTGGTATCGTGGCGATTGTGTGGA AGCGTGGTGTCGCAGTGATTGCGTGGAAGCATGTTGTGATTGTGTGGAAG CGTGGTATCGTGATTGTGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCA TGTCGTGATTGTGTGGAAGTGTGATGTCACGGTGATTGCGTGGAAGCGTG TTGTGATTGGAAGCGTGGTATCGTGATTGGAAGTGTGGTGTCACGCTGAT TGCATGGAAGCGTGTTGTGATTGTGTGGAAGCGTGATATCGCAGTGATTG TGTGGAAGCGTGGTGTCACGGTGATTGTGTGGAAGCGTGGTGTCACGGTG ATTGCGTGGAAGCGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGATTGG AAGCGTGGTGTTGCGGTGATTGCATGGAAGCATGTTGTGATTGTGTGGAA GCATGGTATCGTGATTGTCTGGAAGCATGGTGTCATGGTGATTGGAAGTG TGTCGTGATTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP72_chr5_607340_658553	628555	C C	CCCCGGGG others(530): Show CCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCGTTATG GAGAACTCAGGTCACGGTTCCTGGGGAGTGTTCCCAGGACCCAGCCCCCT TCTTTGTGCAGCTTTTGGAGAACTCAGGTCGCCGTCCCCGGGGAGTGTTC CCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCACC GTCCCCGGGGAGTGGCCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCT GGAGAACTCAGGTTGCAGTTCCCGGGGAGTGTTCCCAGGACCCAGCCCCC TTCTTTGTGCAGCTTCTGGAGAACTCTGGTTGCCGTCCCCGGGGAGTGTT CCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGC AGTCCCCGGGGAGTGTTCCCACGACCCAGCCCCCTTCTTTGTGCAGCTTC TGGAGAACTCAGGTCGCCGTCCCCGGGGAGTGGCCCCAGGACCCAGCCCC CTTCTTTGTGCAGCTTCTGGAGAACTCTGGTTGCAGTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0026 a0003c0003t0002g0026	1	91	0.0110	537	c.512 others(554): Show c.512+4019_512+4020insGTTATGGAGAACTCAGGTCACGGTTCCT GGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTTTGGAGAA CTCAGGTCGCCGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTT GTGCAGCTTCTGGAGAACTCAGGTCACCGTCCCCGGGGAGTGGCCCCAGG ACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGTTCC CGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGA ACTCTGGTTGCCGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTT TGTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCCCGGGGAGTGTTCCCAC GACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCCGTCC CCGGGGAGTGGCCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAG AACTCTGGTTGCAGTTCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCT TTGTGCAGC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650979	G G	GACTGTGA others(530): Show GACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGC GTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGAC TGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03942.hp1 HG02258.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0063 a0001c0001t0001g0050 a0001c0001t0001g0063	2	91	0.0220	537	c.177 others(556): Show c.1779-2009_1779-2008insACTGTGAGGCGTGGACTGTGAGGCGT GGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTG TGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTG ACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGC GTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGA GGTGTGACTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(530): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCCTCTT CCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCC TCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTC CCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCC CCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCC TCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTC TTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCC CCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCC TCCTCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTC CTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCT CCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	270	0.0037	537	c.162 others(558): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCC TCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTC CCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCC CCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCC TCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTC TTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCC CCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCC TCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTC CTCCCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCTTCCTCCTCCT CTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCT TCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTC CCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGAAGG others(530): Show GGGGAAGGCAAGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0001 a0001c0051t0001	a0001c0051t0001g0114 a0001c0051t0001g0114	1	344	0.0029	537	c.85- others(554): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC TTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCT TGCCTTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481352	G G	GTTGCTGG others(530): Show GTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACAGTT CTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCTCC GTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTT CTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAG ACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGTTCTGTCCCTCC GTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTGCT CTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGA CACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGT GCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTG TCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0259 a0003c0007t0005g0259	1	372	0.0027	537	c.275 others(554): Show c.2758+979_2758+980insCTCTGTCCCTCCGTTGCTGGAGACACAC AGTTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCT GGAGACACACTGCTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCC CTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACAC TGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCT GGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGTTCTGTCC CTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACAC TGCTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTG GAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCT CCGTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGC TCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCATTGCTGGA GACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
DIP2C_chr10_269201_694668	323308	A A	AGAGACCG others(530): Show AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGTGA GAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGTGAG AGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGTGAGA GACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAG ACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGA CCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGAC CGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACC GGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCG GCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCGG CGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGC GCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	88	0.0114	537	c.392 others(556): Show c.3924+3697_3924+3698insACTGGAGCCCCGCACCCCCGACTGAC TGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACT GTTCTAACAGCGCCGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACGCCGGTCTCTCGCCGGACCCCCGCACCCCCGACTGACTGT TCTAACAACGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTT CTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTC TAACAACGCCGGTCTCTCGCCGGACCCCCGCACCCCCGACTGACTGTTCT AACAACGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTA ACAGCGCCGGTCTCTCACCGGAGCCCCGCACCCCCGACTGACTGTTCTAA CAGCGCCGGTCTCTCACCGGAGCCCCGCACCCCCGACTGACTGTTCTAAC AACGCCGGTCTCTCACCGGAGCCCCGCACCCCCGACTGACTGTTCTAACA GCGCCGGTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516740	G G	GAGGGGGG others(530): Show GAGGGGGGAAGGGGCGAAGGGGAAGGGGGTAAGGTGGACAGTGGGACAGG GGAAGGGGGTAAGGTGGACAGTGGGACAGGGGAAGGGGGTAAGGGGGGGA CAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGA CAGGGGGTAGGGTGGGAGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACA GGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACA GGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGACGG GGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGG GTGGGGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTG GGGGGGGACACGGGGTAGGGTGGGGGGGACACAGGGGGTAGGGTGGGGGG GGGACACGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACA GGGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	88	0.0114	537	c.86- others(554): Show c.86-30211_86-30210insGTCCCCCCCCACCCTACCCCCTGTCCCC CCCCACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTAC CCCGTGTCCCCCCCCCACCCTACCCCCTGTGTCCCCCCCACCCTACCCCG TGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGTCCC CCCCCCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCTC CCACCCTACCCCGTCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCA CCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCA CCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCTCCCACC CTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACC CTACCCCCTGTCCCCCCCTTACCCCCTTCCCCTGTCCCACTGTCCACCTT ACCCCCTTCCCCTGTCCCACTGTCCACCTTACCCCCTTCCCCTTCGCCCC TTCCCCCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	894845	G G	GCTGGCAG others(530): Show GCTGGCAGGGGTGGGGTGGGGAGAACAGAGTGGAGGCTGGCAGGGGCGGG GTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCCGGCAGGGGCGG GGTGGGGGGAGTGGAGTGGCGGCTGGCAGGGGCGGGGTGGGGAAAGTGGA GCGGTGGATGGCAGGGGTGGCATGGGAAGAGCAGAGTGGTGGCTGGCAGG GCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCTGGCAGG GGCGGGGTGGGGACAGCAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGA GCGGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTG GCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCC GGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGTTGGCAGGGGCGGGGTG GGGAAAGTGGGGTGGTGGATGGCAGGGGTGGCATGGGAAGAGCAGAGTGG TGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp1 NA20300.hp1 HG02258.hp2 HG02818.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0027 a0001c0003t0006 a0001c0003t0013 a0001c0002t0027 a0001c0003t0006 a0001c0003t0013	a0001c0002t0027g0023 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0002t0027g0023 a0001c0003t0006g0033 a0001c0003t0013g0007	3	40	0.0750	537	c.19- others(554): Show c.19-13057_19-13056insTGGGGTGGGGAGAACAGAGTGGAGGCTG GCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCC GGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGCTGGCAGGGGCGGGGTG GGGAAAGTGGAGCGGTGGATGGCAGGGGTGGCATGGGAAGAGCAGAGTGG TGGCTGGCAGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAG CGGCTGGCAGGGGCGGGGTGGGGACAGCAGAGTGGTGGCTGGCAGGGGCG GGGTGGGGAGAGCGGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGG AGTGGTGACTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAG GGGTAGCGGCCGGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGTTGGCA GGGGCGGGGTGGGGAAAGTGGGGTGGTGGATGGCAGGGGTGGCATGGGAA GAGCAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGAC TGGCAGGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78438423	A A	AGGAGGAG others(530): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAG GGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAG GGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGA GGAGGGAGGAGGGGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAG GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAA GGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGG GAGGAGGGAGGAGGAGGAAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGG GAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0037 a0037	a0037c0204 a0037c0204	a0037c0204t0002 a0037c0204t0002	a0037c0204t0002g0147 a0037c0204t0002g0147	1	252	0.0040	537	c.118 others(556): Show c.11806-556_11806-555insCTCCTCCTCCTCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTTCCTCC TCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCC CCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCT CCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCT CCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCT CCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK8_chr9_209865_470255	400680	T T	TCACCACC others(530): Show TCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACC TCCACCACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCAC CACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACC ACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCAT CACCACCACCTCCACCATCACCACCACCTCCACCATCACCATCACCACCA CCTCCACCATCACCACCTCCTCCACCATCACCACCACCTCCACCACCACC ACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACCTCCACCATCAC CATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCACCT CCACCATCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0001	a0006c0026t0001g0184 a0006c0026t0001g0184	1	256	0.0039	537	c.323 others(556): Show c.3234+1483_3234+1484insTCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCAC CACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCA CCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCACCT CCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACC TCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCAT CACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTC CACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619557	T T	TCCCCTCC others(530): Show TCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCTG CTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CTGCTCCCCTGTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0083 a0003c0003t0002g0083	1	250	0.0040	537	c.-10 others(556): Show c.-107+5842_-107+5843insTCCCTGCAGCTCCATGCCCCCCTGCT CCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTGTCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGC TCCATGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635153	C C	CCCCTTCC others(530): Show CCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	250	0.0040	537	c.105 others(552): Show c.105-730_105-729insCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(530): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGATGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02004.hp2 HG01981.hp2 HG02004.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0002 a0003c0002t0001 a0003c0002t0002	a0003c0002t0001g0055 a0003c0002t0002g0222 a0003c0002t0001g0055 a0003c0002t0002g0222	2	288	0.0069	537	c.190 others(556): Show c.1909+7094_1909+7095insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM167A_chr8_11416476_11471753	11456222	A A	AGTGAGTG others(530): Show AGTGAGTGTGGGGGGTGGTTGCCTTGTGGGTATCAGTGTGAGTGTAAGGT GGTTGCCCTGCTGAGTGTGTATGGGTGTGAGTGTGGGGGGTGTTTGCCTT GCTGTGAGTGTGAGTGTGAGGGTTGGTTGCCTTGTGGGTATCAGTGTGAG TGTGAGGTGGTTGCCCTGCTGGGTGTGTATGGGTGTGAGTGTGGGGTGGT TGCCCTGCTGGGTGCGTGTGTGGGGTGGTTGCTCTGCCTGGTGTGTGAGT GTGAGTGTGAGTGTGGGGGGTGGTTGCCTTGCTGTGTGTGAGTGTGAGTG TGGGGGGTGGTTGCCTTGCTGTGTGTGAGTGTGAATGTGGGGGGTGGTTG CCTTGCTGTGTGTGAGTGTGAGTGTGGGGGGTAGTTGCCTTGCTGTGTGT GAGTGTGAGTGTGGGGGGTAGTTGCCTTGCTGGGTGTGTGAATGAGGGGT GGTTGCCTTGCTGTGCATGAGTGTGAGTGTGAGTGTCAGGGGTGGTTGCC CTGCTGGGGGTATGTGAGTGTTGGGTGGTTGCCTTGCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(79): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp2 HG01261.hp1 HG01981.hp1 HG02056.hp2 HG02080.hp1 HG02132.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp2 HG03239.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG04115.hp2 HG04184.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19091.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0005 a0008c0007 a0001c0001 a0001c0005 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0026 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0063 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0099 a0001c0001t0100 a0001c0005t0002 a0008c0007t0002	a0001c0001t0001g0082 a0001c0001t0001g0188 a0001c0001t0001g0247 others(66): Show a0001c0001t0001g0082 a0001c0001t0001g0188 a0001c0001t0001g0247 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0042 a0001c0001t0007g0051 a0001c0001t0007g0057 a0001c0001t0011g0056 a0001c0001t0011g0062 a0001c0001t0012g0030 a0001c0001t0012g0055 a0001c0001t0012g0089 a0001c0001t0012g0090 a0001c0001t0026g0059 a0001c0001t0026g0077 a0001c0001t0039g0073 a0001c0001t0039g0074 a0001c0001t0040g0065 a0001c0001t0040g0083 a0001c0001t0041g0041 a0001c0001t0041g0058 a0001c0001t0042g0035 a0001c0001t0063g0068 a0001c0001t0094g0044 a0001c0001t0095g0054 a0001c0001t0096g0032 a0001c0001t0099g0088 a0001c0001t0100g0189 a0001c0005t0002g0115 a0008c0007t0002g0031	82	374	0.2193	537	c.-39 others(558): Show c.-398+10403_-398+10404insAGCAAGGCAACCACCCAACACTCA CATACCCCCAGCAGGGCAACCACCCCTGACACTCACACTCACACTCATGC ACAGCAAGGCAACCACCCCTCATTCACACACCCAGCAAGGCAACTACCCC CCACACTCACACTCACACACAGCAAGGCAACTACCCCCCACACTCACACT CACACACAGCAAGGCAACCACCCCCCACATTCACACTCACACACAGCAAG GCAACCACCCCCCACACTCACACTCACACACAGCAAGGCAACCACCCCCC ACACTCACACTCACACTCACACACCAGGCAGAGCAACCACCCCACACACG CACCCAGCAGGGCAACCACCCCACACTCACACCCATACACACCCAGCAGG GCAACCACCTCACACTCACACTGATACCCACAAGGCAACCAACCCTCACA CTCACACTCACAGCAAGGCAAACACCCCCCACACTCACACCCATACACAC TCAGCAGGGCAACCACCTTACACTCACACTGATACCCACAAGGCAACCAC CCCCCACACTCAC	FAM167A	ENSG00000154319.16	transcript	ENST00000284486.9	protein_coding	1/2			chr8	TogoVar

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Search Results (Total: 10000 hits)