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
IRAG2_chr12_25047706_25113335	25077352	G G	GATATATA others(499): Show GATATATATGATATATATATGATATATATGAAATATATATATGATATATA TGTGAAATATATATATGATATATATGTGAAATATATATATGATATATATG TGAAATATATATATGATATATATGTGAAATATATATATGATATATATGTG AAATATATATATGATATATATGTGAAATATATATATGATATATATGTGAA ATATATATATGATATATATGTGAAATATATATATGATATATATGTGAAAT ATATATATGATATATATGTGAAATATATATATGATATATATGTGAAATAT ATATATGATATATATGTGAAATATATATATGATATATATGTGAAATATAT ATATGATATATATGTGAAATATATATATGATATATATGTGAAATATATAT ATGATATATATGTGAAATATATATGATATATATGTGAAATATATATGATA TATATGTGAAATATATATGATATATATGATATATATGATATATATGATAT ATATGAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	344	0.0029	506	c.25- others(521): Show c.25-1875_25-1874insATGATATATATGAAATATATATATGATATA TATGTGAAATATATATATGATATATATGTGAAATATATATATGATATATA TGTGAAATATATATATGATATATATGTGAAATATATATATGATATATATG TGAAATATATATATGATATATATGTGAAATATATATATGATATATATGTG AAATATATATATGATATATATGTGAAATATATATATGATATATATGTGAA ATATATATATGATATATATGTGAAATATATATATGATATATATGTGAAAT ATATATATGATATATATGTGAAATATATATATGATATATATGTGAAATAT ATATATGATATATATGTGAAATATATATATGATATATATGTGAAATATAT ATATGATATATATGTGAAATATATATGATATATATGTGAAATATATATGA TATATATGTGAAATATATATGATATATATGATATATATGATATATATGAT ATATATGATATATATATGATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(499): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTC CCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCTCT CCCCTCCCCCTCTCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCCT CCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCTCTC TCCCCCTCCCCTCCCCCCTCTCGCCCTCCCCCTCCCCCATCCCCCTCCCC CATCCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCTCCTTCCCT CTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCC CCCCTCCTTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCC TCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTC CTTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCTT CCCCCTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0032 a0002c0025t0032	a0002c0025t0032g0103 a0002c0025t0032g0103	1	158	0.0063	506	c.11 others(527): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCT CCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCCTCCCCTCCCCCCTCT CTCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCC CCTCTCTCTCCCCCTCCCCTCCCCCCTCTCGCCCTCCCCCTCCCCCATCC CCCTCCCCCATCCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCT CCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCC CTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTC TCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTC CCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCC CCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178758739	G G	GATATATA others(499): Show GATATATATATATATATATATCTCCAAAAGGAGATATATATATATATATA TATCTCCAAGAGGAGATATATATATATATATATATATATCTCCAAGAGGA GATATATATATATATATATATATCTCCTCTTGGAGATATATATATATATC TCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATA TCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATA TATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATA TATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATA TATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATA TATATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAG AGGAGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	232	0.0043	506	c.-67 others(525): Show c.-67-48586_-67-48585insATCTCCAAAAGGAGATATATATATAT ATATATATCTCCAAGAGGAGATATATATATATATATATATATATCTCCAA GAGGAGATATATATATATATATATATATCTCCTCTTGGAGATATATATAT ATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATAT ATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATAT ATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATAT ATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGAT ATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAG ATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGG AGATATATATATATATCTCCAAGAGGAGATATATATATATATATATATCT CCAAGAGGAGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KRT75_chr12_52419070_52439371	52438135	C C	CCCAGGGG others(499): Show CCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGG CCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGT GGAGAAGATAATTCTGTTGTGGACACTCCAGGGACCGAGTGTGGAGAAGG TAATTCTGTTGTGGACACTCCAGGGACCGAGTGTGGAGAAGGTAATTCTG TTGTGGACACTCCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGA CACTCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAG GGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCCAGGGGCCGA GTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAG AAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGATAAT TCTGTTGTGGACACTCCAGGGACCGAGTGTGGAGAAGGTAATTCTGTTGT GGACACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03195.hp1 HG02559.hp2 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0065 a0001c0005t0002g0066 a0001c0005t0002g0065 a0001c0005t0002g0066	2	416	0.0048	506	c.-38 others(517): Show c.-3832_-3831insAGTGTCCACAACAGAATTACCTTCTCCACACTCG GTCCCTGGAGTGTCCACAACAGAATTATCTTCTCCACACTCGGCCCCTGG AGTGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCA CAACAGAATTACCTTCTCCACACTCGGCCCCTGGGAGTGTCCACAACAGA ATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTACCTT CTCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACAC TCGGCCCCTGGGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGTCC CTGGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGTCCCTGGAGTG TCCACAACAGAATTATCTTCTCCACACTCGGCCCCTGGAGTGTCCACAAC AGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTAC CTTCTCCACACTCGGCCCCTGG	KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding		3765		chr12	TogoVar
KRT75_chr12_52419070_52439371	52438145	G G	GAGTGTGG others(499): Show GAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGG AGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGATA ATTCTGTTGTGGACACTCCAGGGACTGAGTGTGGAGAAGGTAATTCTGTT GTGGACACTCCAGGGACCGAGTGTGGAGAAGGTAATTCTGTTGTGGACAC TCCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGG GCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTG TGGAGAAGGTAATTCTGTTGTGGACACTCCCAGGGGCCGAGTGTGGAGAA GGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGGTAATTC TGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGATAATTCTGTTGTGG ACACTCCAGGGACCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCA GGGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(52): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02148.hp1 HG02300.hp1 HG02683.hp2 HG03209.hp1 HG03490.hp2 HG03669.hp1 HG03710.hp2 HG04115.hp2 NA18522.hp1 NA18943.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18995.hp1 NA19004.hp1 NA19007.hp1 NA19054.hp1 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19074.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1	a0003 a0016 a0003 a0016	a0003c0003 a0016c0027 a0003c0003 a0016c0027	a0003c0003t0003 a0016c0027t0001 a0003c0003t0003 a0016c0027t0001	a0003c0003t0003g0003 a0003c0003t0003g0005 a0003c0003t0003g0082 others(6): Show a0003c0003t0003g0003 a0003c0003t0003g0005 a0003c0003t0003g0082 a0003c0003t0003g0083 a0003c0003t0003g0084 a0003c0003t0003g0085 a0003c0003t0003g0086 a0003c0003t0003g0088 a0016c0027t0001g0087	55	416	0.1322	506	c.-38 others(517): Show c.-3842_-3841insTGGCCCCTGGAGTGTCCACAACAGAATTACCTTC TCCACACTCGGTCCCTGGAGTGTCCACAACAGAATTATCTTCTCCACACT CGGCCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCT GGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCTGGGAGTGT CCACAACAGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACA GAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTACC TTCTCCACACTCGGCCCCTGGGAGTGTCCACAACAGAATTACCTTCTCCA CACTCGGTCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACACTCAGT CCCTGGAGTGTCCACAACAGAATTATCTTCTCCACACTCGGCCCCTGGAG TGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACA ACAGAATTACCTTCTCCACACT	KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding		3775		chr12	TogoVar
LRRC74A_chr14_76821408_76875304	76867096	G G	GTGGGGTG others(499): Show GTGGGGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGTGTGTGTTG GGGGGATGGGGTGTGTGTGTGGTAGTGTGGGGGGGTGTGTGTGTTGGGGG TGGGGTGTGTGGTAGTGTGTGTGGGGGAGTGTGTGTGTTGGGGGGTGGGG TGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGGT GGGGTGTGTGTGTGTGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGT GGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGG GGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTT GGGGGGGTGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGG GGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGT GTGTGTGGGTGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAG TGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02027.hp1 HG00438.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0216 a0001c0001t0001g0113 a0001c0001t0001g0216	2	408	0.0049	506	c.130 others(523): Show c.1309-260_1309-259insTGGGGTGTGTGTTGGGGGGTGGGGTGTG TGTGTGGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTG GGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGGTAGTGTGTGTGGGGGAG TGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGG TGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTGTT GGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGG GGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGT GTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGTGT GTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGG TGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGTG GGGTGTGTGTGTGTGTGGTAGTGTGTGT	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13			chr14	TogoVar
MAD1L1_chr7_1810795_2237945	2210416	G G	GTATTCGG others(499): Show GTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTAT TCGGGACCGCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGG GACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACC GCCAGCCTGCATTCCCGTGGACTCTCTAGGAGCCATATTCGGGACCGCCA GCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCT GCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCAT TCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCC GTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGG ACTCTCTAGGAGCCATATTCGGGACCGCCAGCCCGCATTCCCGTGGACTC TCTAGGAGCCGTATTCGGGACCGCCAGCCTGCATTCCCGTGGACTCTCTA GGAGCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	264	0.0038	506	c.986 others(523): Show c.986+2795_986+2796insTGGCTCCTAGAGAGTCCACGGGAATGCA GGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCT GGCGGTCCCGAATATGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCG GTCCCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCC CGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAA TACGGCTCCTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCCCGAATACG GCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATATGGCTC CTAGAGAGTCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGCTCCTAG AGAGTCCACGGGAATGCGGGCTGGCGGTCCCGAATACGGCTCCTAGAGAG TCCACGGGAATGCAGGCTGGCGGTCCCGAATACGGCTCCTAGAGAGTCCA CGGGAATGCGGGCTGGCGGTCCCGAATA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1317145	C C	CCACCCGG others(499): Show CCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCGGCCCCCA CACTCCAGACTCACCCGCAGGCCCACCCGGCCCCCACACTCCAGACTCAC CTGCAGGCCCACCCGGCCCCACACTCCAGACTCACCTGCAGGCCCACCCC AGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAG GCCCACCCCGGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGCCC CCACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCCAGACTC ACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACC CCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACAC TCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCC GCAGGCT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0363 a0001c0010t0002g0363	1	388	0.0026	506	c.456 others(523): Show c.456+1550_456+1551insGGTCCCACACTCCAGACTCACCCGCAGG CCCACCCCGGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGCCCC CACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCCAGACTCA CCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCAC CCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACT CCAGACTCACCCGCAGGCCCACCCCGGCCCCCACACTCCAGACTCACCCG CAGGCCCACCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGC CCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACT CACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCC ACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579087	T T	TCACCACC others(499): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCATCACCACCAACACCA CCACCACCATCACCACCATCACCATCACCACCATCACCACCACCACCACC ATCACCATCACCACCATCACCACCACCACCATCACCACCATCACCACCAT CACCATCACCACCACCACCACCACCACCATCACCACCATCACCATCACCA CCAACACCACCACCACCATCACCACCATCACCATCACCACCAACACCACC ACCACCATCACCACCATCACCATCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCA CCATCAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	362	0.0028	506	c.391 others(521): Show c.391+594_391+595insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAT CACCACCAACACCACCACCACCATCACCACCATCACCATCACCACCATCA CCACCACCACCACCATCACCATCACCACCATCACCACCACCACCATCACC ACCATCACCACCATCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCATCACCACCAACACCACCACCACCATCACCACCATCACCATCA CCACCAACACCACCACCACCATCACCACCATCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCATCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATAGA others(499): Show TATATAGATTCATATATATATATTCATATATAGATTCATATATATATATT CATATATAGATTCATATATAGATTCATATATAGATTCATATAGATTCATA TATAGATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATATTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0091 a0001c0001t0022g0091	1	191	0.0052	506	c.343 others(523): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATGAATCTATATATGAATCTATATGAATCTAT ATATGAATCTATATATGAATCTATATATGAATATATATATATGAATCTAT ATATGAATATATATATATGAATCTATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATATTCA others(499): Show TATATTCATATATAGATTCATATATATATTCATATATAGATTCATATATA TTCATATATAGATTCATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATTCATATATATATTCA TATATATTCATATATATTCATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATATATTCATATA TATATTC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	191	0.0052	506	c.343 others(523): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATGAATCTATATATGAATATATATATGAATCTAT ATATGAATATATATGAATCTATATATGAATATATATGAATCTATATATGA ATATATATATGAATCTATATATGAATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(499): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATTCATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATATATATTCATATA TATATTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	191	0.0052	506	c.343 others(523): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATATGAATCTATATATGAATATATATGAATCTATAT ATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCF2L2_chr3_183173041_183433619	183314931	T T	TTTTGAGA others(499): Show TTTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTAC GATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGG GTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCT GGTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAG TGCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTT TCTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGG AAATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTAC AAGATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAAT CACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGT TTGTTTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG03139.hp1 others(6): Show HG02109.hp1 HG02451.hp1 HG03139.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp1 NA18969.hp1 NA18994.hp1 NA19010.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0018	a0001c0001 a0001c0016 a0001c0023 others(3): Show a0001c0001 a0001c0016 a0001c0023 a0003c0003 a0007c0005 a0018c0019	a0001c0001t0001 a0001c0001t0002 a0001c0016t0011 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0011 a0001c0023t0010 a0003c0003t0003 a0007c0005t0001 a0018c0019t0001	a0001c0001t0001g0050 a0001c0001t0001g0076 a0001c0001t0001g0134 others(6): Show a0001c0001t0001g0050 a0001c0001t0001g0076 a0001c0001t0001g0134 a0001c0001t0002g0122 a0001c0016t0011g0163 a0001c0023t0010g0008 a0003c0003t0003g0049 a0007c0005t0001g0033 a0018c0019t0001g0032	9	176	0.0511	506	c.753 others(523): Show c.753+3136_753+3137insCAAACAAACAAAAAACAAACCAAAAAAA TACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCCTAAT TCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGCAAGAATAC CAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAAAATG GCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGCCAGG TGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGAGAAA CCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCATGCC TGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTG GGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAGCCTG GGCAACAAGAGTGAAATTCTGTCTCAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(499): Show AAAGGGAGGAGAGAGACGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATA AAGGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0064 a0001c0008t0010g0064	1	250	0.0040	506	c.225 others(523): Show c.225-2394_225-2393insAAGGGAGGAGAGAGACGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAAAGGGAGGAGAGAGAGATAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(499): Show AAAGGGAGGAGAGAGACGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATA AAGGGAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0208 a0001c0001t0007g0208	1	250	0.0040	506	c.225 others(523): Show c.225-2394_225-2393insAAGGGAGGAGAGAGACGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAAAGGGAGGAGAGAGAGATAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(499): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	1	256	0.0039	506	c.241 others(525): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(499): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCG TGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CACGTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02559.hp2 HG02818.hp1 others(2): Show HG00280.hp2 HG02559.hp2 HG02818.hp1 NA18959.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0167 a0001c0001t0001g0200 a0001c0001t0002g0236 others(2): Show a0001c0001t0001g0167 a0001c0001t0001g0200 a0001c0001t0002g0236 a0001c0002t0001g0159 a0001c0002t0001g0160	5	256	0.0195	506	c.241 others(525): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(499): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATATATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATTACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATATATAATATAATATATTATATATTATATATAATATATATAATAT ATAATATATTATATATTATATATAATATATATAATATATAATATATTATA TAATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02083.hp1 HG02135.hp2 others(1): Show HG02056.hp1 HG02083.hp1 HG02135.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 others(1): Show a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0311	4	332	0.0121	506	c.262 others(525): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATATATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATTACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATATATAATATAATATATTATAT ATTATATATAATATATATAATATATAATATATTATATATTATATATAATA TATATAATATATAATATATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(499): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATAACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATATATAATATAATATATTATATATTATATATAATATATATAATAT ATAATATATTATATATTATATATAATATATATAATATATAATATATTATA TAATATA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0302 a0001c0002t0001g0302	1	332	0.0030	506	c.262 others(525): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATAACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATATATAATATAATATATTATAT ATTATATATAATATATATAATATATAATATATTATATATTATATATAATA TATATAATATATAATATATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(499): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATTACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATATATAATATAATATATTATATATTATATATAATATATATAATAT ATAATATATTATATATTATATATAATATATATAATATATAATATATTATA TAATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp1 HG01358.hp2 others(35): Show HG00558.hp2 HG01069.hp1 HG01358.hp2 HG01361.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp2 HG02071.hp2 HG02148.hp2 HG02273.hp2 HG03669.hp2 NA18939.hp2 NA18943.hp2 NA18946.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18994.hp1 NA18998.hp2 NA19001.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19066.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0005 a0002c0003t0001 a0001c0002t0001 a0001c0002t0005 a0002c0003t0001	a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0279 others(35): Show a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0005g0283 a0002c0003t0001g0154	38	332	0.1145	506	c.262 others(525): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATTACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATATATAATATAATATATTATAT ATTATATATAATATATATAATATATAATATATTATATATTATATATAATA TATATAATATATAATATATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(499): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATTACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATATATAATATAATATATTATATATTATATATAATATATATAATAT ATAATATATTATATATTATATATAATATATATAATATATAATATATTGTA TAATATA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0292 a0001c0002t0001g0292	1	332	0.0030	506	c.262 others(525): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATTACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATATATAATATAATATATTATAT ATTATATATAATATATATAATATATAATATATTATATATTATATATAATA TATATAATATATAATATATTGTATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(499): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATTAA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATTACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATATATAATATAATATATTATATATTATATATAATATATATAATAT ATAATATATTATATATTATATATAATATATATAATATATAATATATTATA TAATATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	332	0.0030	506	c.262 others(525): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATTAATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATTACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATATATAATATAATATATTATAT ATTATATATAATATATATAATATATAATATATTATATATTATATATAATA TATATAATATATAATATATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(499): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATGTATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATAAATATATATATAAA TATATATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAA AATGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATA TAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATA TATATTATATATATATAAAACCAAAACCAGAAGACCTAATTATATATATA TATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATATTTAG GTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATA AATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGG TTATATG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG02040.hp1 others(10): Show HG00438.hp1 HG00558.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG03490.hp2 NA18965.hp1 NA19000.hp2 NA19056.hp2 NA19084.hp1 NA19085.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0053 a0001c0001t0005g0073 others(10): Show a0001c0001t0005g0049 a0001c0001t0005g0053 a0001c0001t0005g0073 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0296	13	312	0.0417	506	c.293 others(525): Show c.293-28693_293-28692insCATATGTATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATATAAATATAAATATATATATAAATATATATAAA TATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAA AAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAA GCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATAT ATATATAAAACCAAAACCAGAAGACCTAATTATATATATATATTTAGGTC CTCTGGTTTTGGTTTTTTTTATATATATATATATATTTAGGTCTTCTGGT TTTGGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAA TATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTAT ATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(499): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATACATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0018 a0002c0012t0018	a0002c0012t0018g0043 a0002c0012t0018g0043	1	326	0.0031	506	c.358 others(523): Show c.358+3412_358+3413insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATACA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATAGAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(499): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATAGAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0107 a0004c0006t0001g0107	1	326	0.0031	506	c.358 others(523): Show c.358+3444_358+3445insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AATATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATAGAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(499): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATAGAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18953.hp1 NA18960.hp1 others(4): Show NA18951.hp2 NA18953.hp1 NA18960.hp1 NA19060.hp2 NA19064.hp1 NA19077.hp2 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0004c0006t0004	a0001c0002t0001g0099 a0001c0002t0002g0102 a0001c0002t0002g0104 others(4): Show a0001c0002t0001g0099 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0003g0097 a0004c0006t0004g0095 a0004c0006t0004g0100 a0004c0006t0004g0105	7	326	0.0215	506	c.358 others(523): Show c.358+3444_358+3445insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATAGAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(499): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATACGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATAGAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01109.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0106 a0001c0002t0003g0125 a0001c0002t0003g0106 a0001c0002t0003g0125	2	326	0.0061	506	c.358 others(523): Show c.358+3444_358+3445insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATACGTATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATAGAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(499): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTGTATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA AATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATAGAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0093 a0001c0002t0002g0094	2	326	0.0061	506	c.358 others(523): Show c.358+3444_358+3445insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTGTATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATAGAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(499): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCC TCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCT TTTGCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCTTCCCCTCCCCTC TCCTTCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCT CCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTC TCCCTCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	223	0.0045	506	c.289 others(523): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC CCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCC TCTCCCCTCTCCCTTCCCTTTTGCCTCCTCTCCCCTCCCCTTCCCCTCCC CTCCTCTTCCCCTCCCCTCTCCTTCCCCTTTCCCTCCTCCCCTCTTCCCT CCCTCTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCC CTCCCCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(499): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCTCCCTCCCC TTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTC TCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCTTTTGCCTCCTC TCCCCTCCCCTTCCCCTCCCCTCCTCTTCCCCTCCCCTCTCCTTCCCCTT TCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCCTCTTCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTC TCCCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0098 a0003c0010t0003g0098	1	223	0.0045	506	c.289 others(523): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCTCCCTC CCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTC CCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCC CCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTC CCTTCCCTTTTGCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCTTCCC CTCCCCTCTCCTTCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTC CTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCC CTCCCCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NARS1_chr18_57595656_57626836	57618742	T T	TAAGAAAC others(499): Show TAAGAAACAAATTAGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGG AAGGGTGGGGAAAAAATTGAGAAATCAGATGGTTGCCGGGTCTGTGTGGA TAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATT CTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGC TCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGG TGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTGGTTAA GAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCG GAAGGCCACAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTT GTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATC CCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	420	0.0024	506	c.93+ others(521): Show c.93+1826_93+1827insTTTTTTTTTTTTTTTTTTTTTTTTATTGAT CATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAA TAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTT TCCTAGGCAGAGGACCCTGTGGCCTTCCGCAGTGTTTGTGTCCCTGGGTA CTTAAGATTAGGGAGTGGTGATGACTCTTAACCAGCATGCTGCCTTCAAG CATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCT GAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGATAAGGTCA CAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAA ATGAAAAGTCTCCCATGTCTACTTCTATCCACACAGACCCGGCAACCATC TGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAAC CGCCATTGTCATCTAATTTGTTTCTT	NARS1	ENSG00000134440.12	transcript	ENST00000256854.10	protein_coding	2/13			chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(499): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTGTATATATACACAGTATGTATACCG TGTATATATACACAGTATGTATACCGTGTATATATACACAGTATGTATAC TGTGTATATATACACAGTATGTATACTGCATACAGTATGTATACTGTATA CATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACTATACA GTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACA CAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACA CACAGTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0128 a0001c0001t0029g0128	1	362	0.0028	506	c.-75 others(525): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACA GTATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTA TATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGT ATGCAGTATACATACTGTGTATATATACACAGTATACATACTGTGTATAT ATACACGGTATACATACTGTGTATATATACACGGTATACATACTGTGTAT ATATACACGGTATACATACTGTGTATATATACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACATACAGTAT ACATACATACAGTATACATACATACAGTATACATGCTGTATACAGTATAC ATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(499): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCT GGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATG TGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTG GCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCT GGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	506	c.26 others(517): Show c.2689_*2690insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGT GTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NMRK2_chr19_3928069_3947416	3937900	C C	CGCTCCCC others(499): Show CGCTCCCCGTCCACTGTTCCCCCGGGGTCCACCCTCCTGCAATACCCGCT CCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCC CTCCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCCGTCC ACTGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCCACTG TTCCCCCGGGGTCCGCCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCC CCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCGTCCACTGTTCCCCCG GGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCCCCGGGGT CCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGGGGTCTGC CCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTC CTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCCCTCCTGC AATACCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	404	0.0025	506	c.167 others(521): Show c.167-498_167-497insCGGGGTCCGCCCTCCTGCAATACCCGCTCC CCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCGT CCACTGTTCCCCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCGTCCAC TGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCCTCCACTGTC CCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTCCCCC CGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCTGGG GTCCGCCCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCCCCGGGGTCC ACCCTCCTGCAATACCCGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCC TCCTGCAATGCCCGCTCCCCCTCCACTGTCCCCCCGGGGTCTGCCCTCCT GCAATACCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAA TACCTGCTCCCCGTCCACTGTTCCCC	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(499): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	324	0.0031	506	c.140 others(523): Show c.140+8190_140+8191insCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(499): Show GGGGAGGGAGGGGGAGAGGGGGGGACAGGGGAGGGGAGGGAGAGGGAGGG GTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGG ACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGG AGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAG AGAGAGGGAGGGGGCGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGG AGAGGGAGGGAGAGTGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGG AGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0034 a0001c0001t0088g0034	1	386	0.0026	506	c.92 others(517): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCCTCC CTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCT CTCCCTCCACTCTCCCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTC CCCCTCCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTC TCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCCCTC TCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCT CTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCCTCCCCTGTC CCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
OPCML_chr11_132409981_133537501	133437685	C C	CCCTCTCA others(499): Show CCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCC CTTTGCAACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCACCTCTCCCC TCTCAACCCCGCTCACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCT CAACCCCGCTCACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCTC AACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCACGTCTCCCCTCTCAA CCCCTCTCACCTCTCCCCTCTAAACCCCGCTCACCTCTCCCCTCTGCAAC CCCGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCC CGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCCCTTTGCAACCCC TCTCACCTCTCCCCTCTCAACCCCTCTCACCTCTCCCCTCAACCCCGCTC ACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCA CCTCTCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0066 a0001c0001t0010g0066	1	68	0.0147	506	c.61+ others(523): Show c.61+94578_61+94579insTGAGAGGTGAGAGGGGTTGAGAGGGGAG AGGTGAGAGGGGTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGG TGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTGCAAAGGGGAGAGGT GAGCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGA GCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGCAGAGGGGAGAGGTGAG CGGGGTTTAGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGACGTGAGAG GGGTTGAGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGG GTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGGTGAGAGGGGTT GCAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTG AGAGGGGAGAGGTGAGAGGGGTTGCAAAGGGGAGAGGTGAGCGGGGTTGA GAGGGGAGAGGTGAGCGGGGTTGAGAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133437685	C C	CCCTCTCA others(499): Show CCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCCCGCTGACCTCTCCC CTTTGCAACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCACCTCTCCCC TCTCAACCCCGCTCACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCT CAACCCCGCTCACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCTC AACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCACGTCTCCCCTCTCAA CCCCTCTCACCTCTCCCCTCTAAACCCCGCTCACCTCTCCCCTCTGCAAC CCCGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCC CGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCCCTTTGCAACCCC TCTCACCTCTCCCCTCTCAACCCCTCTCACCTCTCCCCTCAACCCCGCTC ACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCA CCTCTCA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01258.hp2 others(5): Show HG01071.hp1 HG01071.hp2 HG01258.hp2 HG01516.hp1 HG02145.hp2 HG02965.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018 a0001c0001t0025 a0001c0001t0032	a0001c0001t0002g0022 a0001c0001t0002g0042 a0001c0001t0003g0024 others(5): Show a0001c0001t0002g0022 a0001c0001t0002g0042 a0001c0001t0003g0024 a0001c0001t0004g0018 a0001c0001t0010g0061 a0001c0001t0018g0008 a0001c0001t0025g0054 a0001c0001t0032g0065	8	68	0.1177	506	c.61+ others(523): Show c.61+94578_61+94579insTGAGAGGTGAGAGGGGTTGAGAGGGGAG AGGTGAGAGGGGTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGG TGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTGCAAAGGGGAGAGGT GAGCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGA GCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGCAGAGGGGAGAGGTGAG CGGGGTTTAGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGACGTGAGAG GGGTTGAGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGG GTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGGTGAGAGGGGTT GCAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTG AGAGGGGAGAGGTGAGAGGGGTTGCAAAGGGGAGAGGTCAGCGGGGTTGA GAGGGGAGAGGTGAGCGGGGTTGAGAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OSGIN1_chr16_83948240_83971332	83950693	A A	ACACGCAC others(499): Show ACACGCACACATGAGCACATGTGCACACATGCACATACTGGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACGTACACACATGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACACACATGCACACGAGCACATGTGCACACATGCAC ATACATACTGGCACACACGTACACACACATGCACACATGAGCACATGTGC ACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACAT GTGCACACATGCACGTACATACTGGCACACGTACACACACGCACACATGA GCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACAT GAGCACATGTGCACACATGCACATACACACTGGCACACACGTACACACAC ACGCACACATGAGCACATGTGCACACATGCACACACATGCACACATGAGC ACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02559.hp2 others(5): Show HG02055.hp2 HG02257.hp2 HG02559.hp2 HG02970.hp2 HG03098.hp2 HG03486.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0003t0003	a0001c0001t0002g0034 a0001c0001t0003g0184 a0001c0002t0003g0174 others(4): Show a0001c0001t0002g0034 a0001c0001t0003g0184 a0001c0002t0003g0174 a0001c0002t0003g0238 a0001c0003t0003g0178 a0001c0003t0003g0181 a0001c0003t0003g0212	8	350	0.0229	506	c.-27 others(517): Show c.-2710_-2709insCACGCACACATGAGCACATGTGCACACATGCACA TACTGGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACGTACACACATGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACACACATGCACACGAGCACA TGTGCACACATGCACATACATACTGGCACACACGTACACACACATGCACA CATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATG CACACATGAGCACATGTGCACACATGCACGTACATACTGGCACACGTACA CACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACACACTGGCA CACACGTACACACACACGCACACATGAGCACATGTGCACACATGCACACA CATGCACACATGAGCACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2546		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950693	A A	ACACGCAC others(499): Show ACACGCACACATGAGCACATGTGCACACATGCACATACTGGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACGTACACACATGCACACATGCGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACACACATGCACACGAGCACATGTGCACACATGCAC ATACATACTGGCACACACGTACACACACATGCACACATGAGCACATGTGC ACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACAT GTGCACACATGCACGTACATACTGGCACACGTACACACACGCACACATGA GCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACAT GAGCACATGTGCACACATGCACATACACACTGGCACACACGTACACACAC ACGCACACATGAGCACATGTGCACACATGCACACACATGCACACATGAGC ACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02965.hp1 HG03225.hp1 HG02809.hp2 HG02965.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 a0001c0001t0003 a0001c0002t0003 a0001c0003t0003	a0001c0001t0003g0177 a0001c0002t0003g0187 a0001c0003t0003g0176 a0001c0001t0003g0177 a0001c0002t0003g0187 a0001c0003t0003g0176	3	350	0.0086	506	c.-27 others(517): Show c.-2710_-2709insCACGCACACATGAGCACATGTGCACACATGCACA TACTGGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACGTACACACATGCACACATGCGCACATGTGCA CACATGCACATACATACTGGCACACACGTACACACATGCACACGAGCACA TGTGCACACATGCACATACATACTGGCACACACGTACACACACATGCACA CATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATG CACACATGAGCACATGTGCACACATGCACGTACATACTGGCACACGTACA CACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACACACTGGCA CACACGTACACACACACGCACACATGAGCACATGTGCACACATGCACACA CATGCACACATGAGCACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2546		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(499): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCC TCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCC CTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTC CCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTT CCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTC CTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCT CCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCC CTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG03579.hp2 HG00323.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0203 a0001c0002t0001g0133 a0001c0001t0002g0203 a0001c0002t0001g0133	2	350	0.0057	506	c.-14 others(517): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCC TCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCA TCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTC CTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTC CCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTCCTC CCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCC TCCCTCCTTCCCTCCCTCCCTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1277		chr16	TogoVar
PARP10_chr8_143972158_143991460	143981908	G G	GTGATGGT others(499): Show GTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGA TGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTGTGATGGTGATGGT GGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTG ATGGTGATGATGATGATGGGGATGATTATGGTGATGGTGGTGGTGATGGT GATTGTTGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATG GTGATGGTGATGGTGATGATGATGAGTGGGGATGATTATGGTGATGGTGG TGGTGATGGTGACTGTTGTAATGGTGATGGTGGTGATGGTGATGATGGTG GTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGA GTGGTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGGTGGTGA TGGTGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGACG ACAGTGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0206 a0007c0009t0003g0206	1	380	0.0026	506	c.255 others(525): Show c.2556+1023_2556+1024insTCACTGTCGTCACCACCACCATCACC ATCACCACCATCACCATCACAACAGTCACCATCACCACCATCCCCACTCA TCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCAT CACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACC ACCATCACCATTACAACAGTCACCATCACCACCACCATCACCATAATCAT CCCCACTCATCATCATCACCATCACCATCACCATGACCCTCACCACTCAC TGTCATCACCACCATCACCATCACAACAATCACCATCACCACCACCATCA CCATAATCATCCCCATCATCATCATCACCATCACCATGACCCTCACCACT CACTGTCATCACCACCACCATCACCATCACCACCATCACCATCACAACAG TCACCATCACCACCATCATCCCCACTCATCATCATCACCATCACCATGAC CCTCACCACTCACTGTCATCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(499): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATGTATTACATATATGTAATACATATATAACATATATGTA TTACATATATGTAATACATATATAACATGTATTACATATATGTAATACAT ATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	400	0.0025	506	c.70 others(517): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATGTATTACATATATGTAATACATA TATAACATATATGTATTACATATATGTAATACATATATAACATGTATTAC ATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(499): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTC CCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCGCCCTCACC CTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAA CCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	360	0.0028	506	c.35 others(517): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCC CCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCA CCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCC TCCATCTGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PDE10A_chr6_165322289_165668241	165619415	T T	TAGCCTAG others(499): Show TAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGTGTAGTG TAGTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTA GTGTAGTCTAGTGTACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTG GTGTGGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCA GTGTAGTCTAGTGTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCA GTGTAGTGTAGTATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTA GTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTGTA GTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTA GTGTAGTGTAGTGTAGTGTACTGTAGTGTAATGTAGTCTAGTCTAGTGTA GTCTAGTGTACTGTAGTGTAGTGCATTGGTCTAGTGCAGTGTAGTCTAGT GTAGTAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	222	0.0045	506	c.865 others(525): Show c.865+42531_865+42532insGTACTACACTAGACTACACTGCACTA GACCAATGCACTACACTACAGTACACTAGACTACACTAGACTAGACTACA TTACACTACAGTACACTACACTACACTACACTAGACTACACTACACTACA CTACAGTACACTAGACTACACTAGACTACACTACACTACACTAGACTACA CTACACTACACTACAGTACACTAGACTACACTAGACTACACTACACTACA CTACAGTACACTAGACTATACTACACTACACTGGACTACACTATACTAGA CTACACTAGACTGTACTACACTAGACTACACTGCACTACACTACAGTACA CTAGACTACACTAGACTACACTACACCACACCACACCACACTAGACTACA CTATACTACACTACAGTACACTAGACTACACTACACTATACTAGACTACA CTAGACTACACTACACTAGACTACACTACTACACTACACTAGCCTACACT AGCCTACCCTAGCCTACACTACACTAGGCT	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PFKP_chr10_3062548_3141802	3085316	T T	TCCAGCAC others(499): Show TCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCAAACCCTCC CCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCTCCCC AGCACAGTCCCCCAACCCCTCCCCAGCAGTCCCCCACTCCACTCTCCAGC ACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCCCAGCAC AGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAG TCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTC CCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCC CCACCCCTTCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCC CACTCCACTCTCCAGCACAGTCCCCCAAACCCTCCCCAGCACAGTCCCCC ACCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCAC CCCCTCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02083.hp2 NA18966.hp1 others(3): Show HG02015.hp2 HG02083.hp2 NA18966.hp1 NA18967.hp1 NA19000.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 a0001c0002t0006 a0001c0005t0003	a0001c0001t0002g0348 a0001c0001t0008g0343 a0001c0002t0002g0347 others(3): Show a0001c0001t0002g0348 a0001c0001t0008g0343 a0001c0002t0002g0347 a0001c0002t0002g0349 a0001c0002t0006g0351 a0001c0005t0003g0116	6	402	0.0149	506	c.186 others(523): Show c.186+2896_186+2897insAACCCTCCCCAGCACAGTCCCCCAACCC CTCCCCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCT CCCCAGCAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCCTCCC CAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACCCCTTCCCCA GCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGC ACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCAC AGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAG TCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAG TCCCCCAAACCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTC CCCCACCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCC CCACTCCACTCTCCAGCACAGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAP6_chr16_365788_386978	378351	G G	GACTGCCA others(499): Show GACTGCCATCGCCACCCTGACTGCCATCGCCACCCGCACTGCCATCCCCA CCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCCATC GCCACCCTGACTGCCATCGCCACCCACACTGCCATCGCCACCCCGCACTG CCATCGCCACCCCGCACTGCCATCCCCACCCGCACTGACATCGCCACCCG CACTGCCATCGCCACCCGCACTGACATCGCCACCCGCACTGCCATCGCCA CCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACTCTGACTGCCATC CCCACCCACACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGC CATCGCCACCCGCACTGCCATCCCCACCCGCACTGCCATCGCCACCCTGA CTGCCATCGCCACCCACAATGCCATCCCCACCCGCACTGCCATCGCCACC CACAATGCCATCCCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGC CACCCAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0170 a0002c0002t0003g0170	1	376	0.0027	506	c.122 others(521): Show c.122-504_122-503insGTGGGTGGCGATGGCAGTCAGGGTGGCGAT GGCAGTGCGGGTGGGGATGGCATTGTGGGTGGCGATGGCAGTGCGGGTGG GGATGGCATTGTGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGG GTGGGGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGT GCGGGTGGGGATGGCAGTGTGGGTGGGGATGGCAGTCAGAGTGGCGATGG CAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCG ATGTCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGTCAGTGCGGGT GGGGATGGCAGTGCGGGGTGGCGATGGCAGTGCGGGGTGGCGATGGCAGT GTGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGATGG CAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGCGGGTGGCG ATGGCAGTCAGGGTGGCGATGGCAGT	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PIAS4_chr19_4002736_4044386	4011658	T T	TGGTGTGG others(499): Show TGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGT TTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTG TTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0259 a0001c0004t0003g0259	1	334	0.0030	506	c.28- others(521): Show c.28-1251_28-1250insTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGT GGAGGTGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(499): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCT GGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATG TGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTG GCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCT GGCACCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0240 a0002c0001t0001g0240	1	408	0.0025	506	c.-10 others(523): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGC CTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PIGR_chr1_206923522_206951466	206924299	A A	AGTGTGTG others(499): Show AGTGTGTGTGCTCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGTGA TTGTGTGTGTGATGTGTGTCCATGAGTGTGTGTGTGCTCTGTGGAGTGTG TGAATGTGTGGTGTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGC TATGTGTGTGTGCTATGTGTTGTGTGTGGTATGTAGTTATGAGTGTGTGT CACTGCGTGGTGTGTGGCTATGAGTGTGTGTGTGCGCACTCTATGCTCTG TCTAGTGTGTGTGTGGTTGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAG TGTGTGTGTTCTCTGTCTAGTGTGTGTGTGGTTATGTGTGTGTGATTGTG TGTGTGGTGTGTGTCCATGAGTGTGTGTGTGCTCTGTAGAGTGTGTGTGT GGCGTGTGGCTATGAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGT GTGGCTATGAGTGTGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGC TATGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0094 a0002c0002t0002g0094	1	402	0.0025	506	c.60 others(517): Show c.6018_*6019insACTCATAGCCACACACCACACACACACTCCACAG AGCACACACACACTCATAGCCACACACCACACACACACTCCACAGTGCAC ACACACACTCATAGCCACACGCCACACACACACTCTACAGAGCACACACA CACTCATGGACACACACCACACACACAATCACACACACATAACCACACAC ACACTAGACAGAGAACACACACACTCATAACTACACACCACACACTCACA CACTCAACCACACACACACTAGACAGAGCATAGAGTGCGCACACACACAC TCATAGCCACACACCACGCAGTGACACACACTCATAACTACATACCACAC ACAACACATAGCACACACACATAGCCACACACCACACATTCACACACACT CATAGCCACACACCACACATTCACACACTCCACAGAGCACACACACACTC ATGGACACACATCACACACACAATCACACACACATAACCACACACCACAC ACACTAGACAGAGCACACACAC	PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding		4222		chr1	TogoVar

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Search Results (Total: 10000 hits)