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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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
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(821): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCT CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGATAGTAGCCCTTTCCAGCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0190 a0003c0004t0003g0190	1	279	0.0036	828	c.215 others(845): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCA TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAG GTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGATAGTAGCCCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(821): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCT CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGATAGTAGCCCTTTCCAGCA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03831.hp2 NA19065.hp2 HG02080.hp2 HG03831.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0194 a0002c0002t0001g0258 a0002c0002t0001g0059 a0002c0002t0001g0194 a0002c0002t0001g0258	3	279	0.0108	828	c.215 others(845): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCTCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAG CATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCA TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAG GTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGATAGTAGCCCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(821): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTA GTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCT CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGATAGTAGCCCTTTCCAGCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0093 a0001c0009t0002g0093	1	279	0.0036	828	c.215 others(845): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCTCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAG CATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCA TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAG GTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGATAGTAGCCCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(821): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGG GAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAG AAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAA GGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGG GGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAGGGGGAGAGAA GGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGA GGTGGAGGAGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGG AGGGGGAGAGGGGGAGGAGGGGGAGAGTGGGAGGAGGGGGGGAGGGGGAG AGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAG AGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGG CGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGG TGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAG AGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAG AGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAG GGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGGGCG GGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAG AGGGAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0299 a0007c0007t0002g0299	1	308	0.0033	828	c.371 others(845): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTCCC TCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGC CCGCCCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGC CCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTC TCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCC TCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCC ACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTC GCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTC TCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCC TCTCCCCCTCCCCCCCTCCTCCCACTCTCCCCCTCCTCCCCCTCTCCCCC TCCTCCCCCTCCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCTCCTCCAC CTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCC CTTCTCTCCCCCTCTCCCCCTCTCCCTTTCTCTCCCCCTCTCTCCCCCTC CCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCC CTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCT TCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCT CCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(821): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCATCACCACCAC CACCATCACCATCATCACCATCACCACCAGCACCACCACCATCACCACCA CCATCACCACCAGCACCACCACCATCACCACCACCATCACCATCACCATC ACCACCATCATCATCACCACCATCACCACCACCACCACCACCATCATCAC CATCACCACCAGCACCACCACCATCACCACCACCATCACCACCACCACCA CCACCATCATCACCATCACCACCAGCACCACCACCAACATCATCATCATC ACCACCACCACCACCATCACCACCACCACCACCATCAACACCACCATCAT CATCACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0022 a0022	a0022c0073 a0022c0073	a0022c0073t0021 a0022c0073t0021	a0022c0073t0021g0186 a0022c0073t0021g0186	1	322	0.0031	828	c.48 others(839): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGA TGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTGAT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGG TGATGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTGGTG GTGATGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGATGGTGGTGGT GGTGATGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGG TGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGATGGTGA TGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCTGG TGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGATG ATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTGGT GATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGA GATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGTGA GATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGA TGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
POLG_chr15_89311320_89339824	89325107	A A	AGTGAGAG others(821): Show AGTGAGAGAGTGAGTGAGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGTGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGTGAGAGAGTGAGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0198 a0008c0014t0001g0198	1	398	0.0025	828	c.194 others(845): Show c.1949+342_1949+343insACTCACTCTCTCACTCACTCACTCACTC ACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCAC TCACTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCAC TCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTC ACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCAC TCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCAC TCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTC TCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCTC TCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTC TCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCAC TCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTC ACTCACTCACTCACTCTCTCACTCACTCTCTCACTCTCTCACTCACTCAC TCACTCACTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACAC TCACTCACTCACTCACTCACTCTCTCACTCTCACTCACTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCACTCAC TCACTCTCTCACTCACTCACTCACTCACTCTCTCTCACTCACTCTCTCAC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(821): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATACGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGA CATATTCACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATA CGGACATTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTAT GGACATATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACA GACATATTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATA CGGCCATATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGA TACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGT GATGCGGACATATTCACGCGTTTGTGTGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0061 a0001c0001t0007g0061	1	346	0.0029	828	c.367 others(845): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATACGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACA TTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTATGGACAT ATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACAGACATA TTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATACGGCCA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGC CATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCG GACATATTCACGCGTTTGTGTGATACGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(821): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCACGCGTTTGTGATACGGA CATATTCACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATA CGGACATTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTAT GGACATATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACA GACATATTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATA CGGCCATATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGA TACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGT GATGCGGACATATTCACGCGTTTGTGTGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18906.hp1 HG02647.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0094 a0001c0001t0002g0095	2	346	0.0058	828	c.367 others(845): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACA TTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTATGGACAT ATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACAGACATA TTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATACGGCCA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGC CATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCG GACATATTCACGCGTTTGTGTGATACGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(821): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGA CATATTCACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATA CGGACATTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTAT GGACATATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACA GACATATTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATA CGGCCATATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGA TACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGT GATGCAGACATATTCACGCGTTTGTGTGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	346	0.0029	828	c.367 others(845): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACA TTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTATGGACAT ATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACAGACATA TTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATACGGCCA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGC CATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCA GACATATTCACGCGTTTGTGTGATACGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(821): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGA CATATTCACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATA CGGACATTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTAT GGACATATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACA GACATATTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATA CGGCCATATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGA TACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGT GATGCGGACATATTCACGCGTTTGTGTGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(46): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG01069.hp2 HG01074.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03834.hp1 HG04204.hp2 NA18939.hp1 NA18946.hp1 NA18951.hp2 NA18964.hp1 NA18967.hp2 NA18978.hp2 NA18984.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp1 NA19074.hp1 NA19077.hp2 NA19083.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0002t0010	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0031 others(43): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0199 a0001c0001t0003g0007 a0001c0001t0003g0032 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0112 a0001c0001t0007g0054 a0001c0001t0007g0059 a0001c0001t0007g0063 a0001c0001t0009g0029 a0001c0001t0009g0058 a0001c0001t0010g0050 a0001c0001t0017g0057 a0001c0002t0010g0208	49	346	0.1416	828	c.367 others(845): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACA TTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTATGGACAT ATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACAGACATA TTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATACGGCCA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGC CATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCG GACATATTCACGCGTTTGTGTGATACGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(821): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGTCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGA CATATTCACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATA CGGACATTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTAT GGACATATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACA GACATATTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATA CGGCCATATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGA TACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGT GATGCGGACATATTCACGCGTTTGTGTGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0055	1	346	0.0029	828	c.367 others(845): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGTCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACA TTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTATGGACAT ATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACAGACATA TTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATACGGCCA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGC CATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCG GACATATTCACGCGTTTGTGTGATACGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(821): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCG TTTGTGTGATATGGGCATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGA CATATTCACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATA CGGACATTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTAT GGACATATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACA GACATATTCACGCGTTTGTGTGATACAGATATATTCACGCATTTGTGATA CGGCCATATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGA TACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGT GATGCGGACATATTCACGCGTTTGTGTGA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG01106.hp1 others(1): Show HG00733.hp1 HG01081.hp1 HG01106.hp1 HG01993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0172 a0002c0003t0008g0173 a0002c0003t0008g0174 others(1): Show a0002c0003t0008g0172 a0002c0003t0008g0173 a0002c0003t0008g0174 a0002c0003t0008g0175	4	346	0.0116	828	c.367 others(845): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGCGTTTGTG TGATATGGGCATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACA TTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTATGGACAT ATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACAGACATA TTCACGCGTTTGTGTGATACAGATATATTCACGCATTTGTGATACGGCCA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGC CATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCG GACATATTCACGCGTTTGTGTGATACGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(821): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGTG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCATGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATACGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGA CATATTCACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATA CGGACATTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTAT GGACATATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACA GACATATTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATA CGGCCATATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGA TACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGT GATGCGGACATATTCACGCGTTTGTGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp1 NA19030.hp1 HG02109.hp1 HG02976.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0047	3	346	0.0087	828	c.367 others(845): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGTGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCA TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATACGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACA TTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTATGGACAT ATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACAGACATA TTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATACGGCCA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGC CATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCG GACATATTCACGCGTTTGTGTGATACGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(821): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGTG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATACGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGA CATATTCACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATA CGGACATTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTAT GGACATATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACA GACATATTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATA CGGCCATATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGA TACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGT GATGCGGACATATTCACGCGTTTGTGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	346	0.0029	828	c.367 others(845): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGTGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATACGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACA TTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTATGGACAT ATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACAGACATA TTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATACGGCCA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGC CATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCG GACATATTCACGCGTTTGTGTGATACGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(821): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATACGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGTG TTTGTGTGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACA CGTTTGTGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATT CACGCGTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATA TTCACACGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACA TATTCACACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGA CATATTCACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATA CGGACATTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTAT GGACATATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACA GACATATTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATA CGGCCATATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGA TACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGT GATGCGGACATATTCACGCGTTTGTGTGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02451.hp2 HG02572.hp1 others(5): Show HG01074.hp2 HG02451.hp2 HG02572.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0041 others(5): Show a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048	8	346	0.0231	828	c.367 others(845): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAC GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGCCATATTCACGCGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGTGTTTGTGTGTAGGACATATTCACGTGTTTGTG TGATATGGACATATTCACGCGTTTGTGATACGGACATATTCACACGTTTG TGTGATGCGGACATATTCACGCGTTTGTGTGATACGGACATATTCACGCG TGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACGCG TTTGTGTGATATGGCCATATTCACGTGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGATACGGACATATT CACGCGTTTGTGTGATACGGCCATATTCACGCGTTTGTGTGATACGGACA TTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTGTGTATGGACAT ATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGTGTACAGACATA TTCACGCATTTGTGTGATACAGATATATTCACGCATTTGTGATACGGCCA TATTCACACGTTTGTGATACGGACATATTCACACGTTTGTGTGATACGGC CATATTCACGCGTTTGTGATACGGACATATTCACACGTTTGTGTGATGCG GACATATTCACGCGTTTGTGTGATACGGACATATTCACGCGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB7B_chr1_205971740_206008395	205985778	T T	CCAGGCCC others(821): Show CCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATC CCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCC CCACCATCCCCACCAGGCCCACCATCCCCACCAGGCTCACCATCCCCACC AGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCC CACCAGGCCCACCATCCCCACCATCCCCACCAGGCTCACCATCCCCACCA TCCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCC ACCAGGCCCACCATCCCCACCAGGCTCACCATCCCCACCAGGCCCACCAG GCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCA CCATCCCCACCATCCCCACCAGGCTCACCAGGCCCACCATCCCCACCATC CCCACCAGGCTCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCAC CATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGC CCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACC AGGCCCACCATCCCCACCAGGCTCACCAGGCCCACCATCCCCACCATCCC CACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCATCA GGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCC ACCAGGCCCACCAGGCCCACCATCCCCAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0079 a0001c0001t0007g0079	1	330	0.0030	828	c.397 others(843): Show c.397-113_397-112insTGGGGATGGTGGGCCTGGTGGGCCTGGTGG GGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTG ATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGG GATGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGA TGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGGGGATGGTG GGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCT GGTGGGCCTGGTGGGGATGGTGAGCCTGGTGGGGATGGTGGGCCTGGTGG GGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGGATG GTGGGGATGGTGAGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGG GATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGG TGGGGATGGTGAGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGG ATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGT GGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RBPMS_chr8_30379541_30577256	30388495	A A	ATAACTTA others(821): Show ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0274 a0001c0001t0004g0274	1	304	0.0033	828	c.66+ others(843): Show c.66+3370_66+3371insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMBP2_chr12_130391133_130721299	130646065	G G	GCCTCTCC others(821): Show GCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCC CTCACCACCTCCCTCACCACCTGCCTCATCACCTCCCTCACCACCTGCCT CTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCT CCACCTCCCTCGCCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACC ACCTCCCTCTCCACCTCCCTCGCCACCTCCCTCTCCACCTCCCTCACCAC CTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCGCCACCT CCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCC CTCGCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCT CACCACCTCCCTCTCCACCTCCCTCGCCACCTCCCTCTCCACCTCCCTCG CCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCC ACCTCCCTCGCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCAC CTCCCTCACCACCTCCCTCTCCACCTCCCTCGCCACCTCCCTCTCCACCT CCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCC CTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCCCT CACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCT CCACCTCCCTCGCCACCTCCCTCTCCACCTCCCTCGCCACCTCCCTCTCC ACCTCCCTCACCACCTCCCTCACCACCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0055 a0007c0017t0001g0056 a0007c0017t0001g0055 a0007c0017t0001g0056	2	180	0.0111	828	c.-35 others(849): Show c.-351-17610_-351-17609insGAGGTGGTGAGGGAGGTGGTGAGG GAGGTGGAGAGGGAGGTGGCGAGGGAGGTGGAGAGGGAGGTGGCGAGGGA GGTGGAGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGG TGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTG GAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGA GAGGGAGGTGGAGAGGGAGGTGGCGAGGGAGGTGGAGAGGGAGGTGGTGA GGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGCGAGG GAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGA GGTGGCGAGGGAGGTGGAGAGGGAGGTGGCGAGGGAGGTGGAGAGGGAGG TGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTG GCGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGA GAGGGAGGTGGCGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGA GGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGCGAGGGAGGTGGAGAGG GAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGCGAGGGA GGTGGAGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGG TGGAGAGGCAGGTGGTGAGGGAGGTGATGAGGCAGGTGGTGAGGGAGGTG GTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGA GAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RPTOR_chr17_80539838_80971368	80744205	T T	TTACGAGC others(821): Show TTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0048 a0001c0024t0002g0048	1	196	0.0051	828	c.655 others(845): Show c.655-9802_655-9801insGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAGAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGTACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAG CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744385	T T	TTACTAGC others(821): Show TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACGAGCACTGTCCTGGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0057 a0001c0001t0019g0057	1	196	0.0051	828	c.655 others(845): Show c.655-9622_655-9621insTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744487	C C	CCCTGGCT others(821): Show CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACGA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	196	0.0051	828	c.655 others(845): Show c.655-9496_655-9495insTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGA GCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC GAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744677	T T	TAGCACTA others(821): Show TAGCACTATCCTGGCTACTAGTACAGCCCTGGTTGCTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCAC TGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGCTACTAGTACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAG CCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTATCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTA GCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACTGTCCT GGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGTACAG CCCTGGCTACTAGCACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0036 a0001c0008t0036	a0001c0008t0036g0002 a0001c0008t0036g0002	1	196	0.0051	828	c.655 others(845): Show c.655-9328_655-9327insTATCCTGGCTACTAGTACAGCCCTGGTT GCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGCACTATC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACTAGTACAGCCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGT ACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG TTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCC CTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(821): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAGGGGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGA GAAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAG AGAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAAC AGGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGG AAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAA GAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAA AGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGG AGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAG AAAAAGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAG AAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAG GAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGA GGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGG AGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGG GAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01496.hp1 HG00438.hp1 HG01496.hp1	a0004 a0004	a0004c0012 a0004c0028 a0004c0012 a0004c0028	a0004c0012t0061 a0004c0028t0004 a0004c0012t0061 a0004c0028t0004	a0004c0012t0061g0162 a0004c0028t0004g0201 a0004c0012t0061g0162 a0004c0028t0004g0201	2	314	0.0064	828	c.916 others(845): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATT CCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCT TCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCTTTT TCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTC TCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCCTC TTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTT CTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCC TCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCT CTCCTCCTCCTCCCTTCTCTCCTCCTCCCTTCTCTCCTCCTCCTTCTCCT TCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCC TGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTTTC TCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTT CTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTTCCCCT CCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SERINC2_chr1_31408213_31439678	31431796	T T	TAGGATGG others(821): Show TAGGATGGTTAGGGTGGACAGGGTGGTTAGGGTGGAGAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGT GGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG TTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGTTAGGGTGGAGAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGGG TGGATAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGAG AGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGGGT GGATAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACA GGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGACAG GGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGAGAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0174 a0001c0004t0003g0174	1	376	0.0027	828	c.101 others(847): Show c.1014-1168_1014-1167insATGGTTAGGGTGGACAGGGTGGTTAG GGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGG TGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACA GGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGACAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGG ACAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGT GGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGACA GG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431858	A A	ACAGGGTG others(821): Show ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGAGAG GGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGG ACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGATGGT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0070 a0001c0005t0002g0070	1	376	0.0027	828	c.101 others(847): Show c.1014-1109_1014-1108insCAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTG GAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAG GGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGTTA GGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATG GT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(821): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATTATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	340	0.0029	828	c.17 others(847): Show c.174+9760_*174+9761insAATATATTATATTTTATAATATATAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATCTTATATAATATAAAATATAATATATTATATATTATAAAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATAATAT ATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTT TATATATATTATAAAATATAATATATTATATATTATAATATGTAATATAT ATTATATATTATAATATATAATATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAAAATATAATATATATTACATATTATAAAATATA ATATATTATATATTATAAAATATAATATATATTACATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAATATATAATATATTATATATTATAATATATAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATAAAAT AT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SPATC1L_chr21_46156160_46189459	46170220	A A	ACATCCTC others(821): Show ACATCCTCTGTGGATGGGGAGGAAGCCCCCTATTCTGTGAACATCCTCTG TGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCGTGGATGGGGAGG AGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCCTGC TCTGTGAGCATCCTCTGTGGATTGGGGAGGAGCCTCCTGCTCTGTGAGCA TCCTCTGTGGATGGGGAGGAGCCCCCTGCTCCGTGAACATCCTCTGTGGA TGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGC CTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTG TGAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTC TGTGGATGGGGGAGGAGCCTCCCCTGCTCTGTGAGCATCCTCTGTGGATG GGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGCTCCAGGAGGAGCCT CCTTCTCTGTGAACATCCTCTGTGGATGTGGAGGAGCCCCCTGCTCTGTG AACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTG TGGATGGGGAGGAGCCTCCTGCTCTAGTGAGCATCCTCTGTGGTCCAGGA GGAGCCTCCTGCTCTGTGAACATCCCTCTGTGGATGGGGAGGAGCCCCCT GCTCTGTGAACATCCTCTGTGGATTGGGAGGAGCCCCCTACTCTGTGAAC ATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGG ATGGGGAGGGAGCCTCCCTGCTCTGTGAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	251	0.0040	828	c.194 others(845): Show c.194-1563_194-1562insCTCACAGAGCAGGGAGGCTCCCTCCCCA TCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGA TGTTCACAGAGTAGGGGGCTCCTCCCAATCCACAGAGGATGTTCACAGAG CAGGGGGCTCCTCCCCATCCACAGAGGGATGTTCACAGAGCAGGAGGCTC CTCCTGGACCACAGAGGATGCTCACTAGAGCAGGAGGCTCCTCCCCATCC ACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGT TCACAGAGCAGGGGGCTCCTCCACATCCACAGAGGATGTTCACAGAGAAG GAGGCTCCTCCTGGAGCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCC CCATCCACAGAGGATGCTCACAGAGCAGGGGAGGCTCCTCCCCCATCCAC AGAGGATGTTCACAGAGCAGGAGGCTCCTCCTGGACCACAGAGGATGCTC ACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGA GGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCC ATCCACAGAGGATGTTCACGGAGCAGGGGGCTCCTCCCCATCCACAGAGG ATGCTCACAGAGCAGGAGGCTCCTCCCCAATCCACAGAGGATGCTCACAG AGCAGGGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGGGGC TCCTCCCCATCCACGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCC ACAGAGGATGTTCACAGAATAGGGGGCTTCCTCCCCATCCACAGAGGATG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(821): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCCACCC CCCCACCATCTCCCATCCTATCCACCCCCCCACCATCCCCCATCCTATCC ACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCTCCCATCCTA TCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCA TCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCA TCCTATCCACCCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCC CCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCAC CCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCAC CCCCCCACCATCCCCCATCCTATCCACCCCCCCCACATCCATCCTATCCA CCCCCCCCACATCCATCCTATCCACCCCCCCACCCACCATCCACCATCCT ATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCCT ATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCAT CCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACC CGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATAT CCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCACC GTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCAGCCACC CACCCACCTATCCTATTCATCCATCCACC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	258	0.0039	828	c.113 others(847): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCC CCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCAC CCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCCA CCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACTAT CCATCCACCACCCCCACACCCATCCTATCCACCCACCCACCATCCCCCAT CCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCTC CCATCCTATCCACCCCCCCCACCCACCATCCCCCATCCTATCCACCCACC CACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACC CCCCCCACATCCATCCTATCCACCCCCCCCACATCCATCCTATCCACCCC CCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACTATCCAT CCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCCAC TCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCATCC CCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTCTG TCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCCTA TCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACACTGTCCA TCCACCCACCCACCCAGCCACCCACCCACCTATCCTATTCATCCATCCAC CC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAS2R4_chr7_141771674_141786691	141780979	T T	TAAGAACT others(821): Show TAAGAACTCTAAATGATTTATACTCATTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGCTGCTATAAAGAC ACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTG GAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGC ACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATA TCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACT ATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGA ATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGG GGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATA CCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACAT GTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTT AGAGTATAATAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp2 NA18997.hp1 NA18942.hp2 NA18997.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0016 a0003c0003t0016	a0003c0003t0016g0000 a0003c0003t0016g0000	2	446	0.0045	828	c.16 others(839): Show c.1606_*1607insTTTATACTCATTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGCTGCTATAAAGAC ACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTG GAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGC ACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATA TCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACT ATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGA ATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGG GGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATA CCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACAT GTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTT AGAGTATAATAAAAAAAAAAAAAAAAAAAAAGAACTCTAAATGA	TAS2R4	ENSG00000127364.4	transcript	ENST00000247881.4	protein_coding	1/1	1607	INFO_REALIGN_3_PRIME	chr7	TogoVar
TMPRSS9_chr19_2355265_2431261	2418721	T T	TCCTTCCC others(821): Show TCCTTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTTCCTCCCTTTCCTT CCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTTCCCTT CTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCCCTCCCTC CCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTT TCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCT TTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTC CTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTACCCTCCC CTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACC TCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTC CTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTC CCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCT TCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCC TTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCC TTCCCTCCCTCCCTCCCTTTCCTTCCCCATCCCTTTCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCC CTCCCTCCCTTTCCTTCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	114	0.0088	828	c.215 others(845): Show c.2154+587_2154+588insCCCTCCCTCCCTTTCCTTCCCTGCCTTC CCTTCCTCCCTTTCCTTCCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCC CTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCC CTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCC CCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTT CCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTT CCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCT TCCCTCCCTACCCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCT CCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCC TTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCC CTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCC CCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTC CCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCT CCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCT CCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCATCCC TTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCC TCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCTTCCCTCCCTCCCTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418721	T T	TCCTTCCC others(821): Show TCCTTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTTCCTCCCTTTCCTT CCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTTCCCTT CTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCCCTCCCTC CCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTT TCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCT TTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTC CTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTACCTCCCC TTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCT CTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCC TTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCC CTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTC CCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCT TCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCT TCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCC CTCCCTCCCTTTCCTTCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	114	0.0088	828	c.215 others(845): Show c.2154+587_2154+588insCCCTCCCTCCCTTTCCTTCCCTGCCTTC CCTTCCTCCCTTTCCTTCCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCC CTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCC CTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCC CCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTT CCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTT CCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCT TCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTC CCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCT TCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCC TCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCC CACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCC CCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTC CCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTC CCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCC TTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCC TCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCTTCCCTCCCTCCCTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418721	T T	TCCTTCCC others(821): Show TCCTTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTTCCTCCCTTTCCTT CCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTTCCCTT CTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCCCTCCCTC CCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTT TCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCT TTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTC CTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTACCTCCCC TTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCT CTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCC TTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCC CTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTC CCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCT TCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCT TCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCC CTCCCTCCCTTTCCTTCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01975.hp1 HG03654.hp1 others(3): Show HG00099.hp2 HG01975.hp1 HG03654.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0001 a0002c0011t0001 a0001c0001t0001 a0002c0011t0001	a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0094 a0001c0001t0001g0108 a0002c0011t0001g0098	6	114	0.0526	828	c.215 others(845): Show c.2154+587_2154+588insCCCTCCCTCCCTTTCCTTCCCTGCCTTC CCTTCCTCCCTTTCCTTCCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCC CTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCC CTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCC CCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTT CCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTT CCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCT TCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTC CCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCT TCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCC TCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCC CACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCC CCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTC CCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTC CCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCC TTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCC TCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCTTCCCTCCCTCCCTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418721	T T	TCCTTCCC others(821): Show TCCTTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTTCCTCCCTTTCCTT CCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTTCCCTT CTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCCCTCCCTC CCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTT TCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCT TTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTC CTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTACCTCCCC TTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCT CTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCC TTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCC CTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTC CCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCT TCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCT TCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCC CTCCCTCCCTTTCCTTCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01952.hp2 others(2): Show HG00423.hp1 HG00609.hp2 HG01952.hp2 HG02004.hp1 NA19079.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0008c0012t0001 a0001c0001t0001 a0008c0012t0001	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 others(2): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0008c0012t0001g0024 a0008c0012t0001g0104	5	114	0.0439	828	c.215 others(845): Show c.2154+587_2154+588insCCCTCCCTCCCTTTCCTTCCCTGCCTTC CCTTCCTCCCTTTCCTTCCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCC CTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCC CTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCC CCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTT CCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTT CCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCT TCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTC CCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCT TCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCC TCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCC CACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCC CCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTC CCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTC CCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCC TTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCC TCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCTTCCCTCCCTCCCTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRAF6_chr11_36478769_36515272	36507363	C C	CATACATA others(821): Show CATACATAAATGTATATACGTATATATACATGTATTATACATACATAAAT GTATATACGTATATATACATGTATTATACATACATAAATGTATATACGTA TATATACATGTATTATACATACATAAATGTATATACGTATATATACATGT ATTATACATACATAAATGTATATACGTATATATACATGTATTATACATAC ATAAATGTATATACGTATATATACATGTATTATACATACATAAATGTATA TACGTATATATACATGTATTATACATACATAAATGTATATACGTATATAT ACATGTATTATACATACGTAAATGTATATACGTATATATACATGTATTAT ACATACGTAAATGTATATACGTATATATACATGTATTATACATACGTAAA TGTATATACGTATATATACATGTATTATACATACGTAAATGTATATACGT ATATATACATGTATTATACATACGTAAATGTATATATGTATATATACATG TATTATACATACGTAAATGTATATATACATTATACATACGTAAATGTATA TATGTATATATACATTATACATACGTAAATGTATATATGTATATATACAT TATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATG TATATATGTATATATACATTATACATACGTAAATGTATATATGTATATAT ACATTATACATACGTAAATGTATATATGTATATATACATTATACATACGT AAATGTATATATGTATATATACATTATACATACGTAAATGTATATATGTA TATATACATTATACATACATAAATGTATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0266 a0001c0001t0007g0266	1	388	0.0026	828	c.-23 others(845): Show c.-23+2684_-23+2685insAATACATTTATGTATGTATAATGTATAT ATACATATATACATTTACGTATGTATAATGTATATATACATATATACATT TACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAATG TATATATACATATATACATTTACGTATGTATAATGTATATATACATATAT ACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTAT AATGTATATATACATATATACATTTACGTATGTATAATGTATATATACAT ATATACATTTACGTATGTATAATGTATATATACATTTACGTATGTATAAT ACATGTATATATACATATATACATTTACGTATGTATAATACATGTATATA TACGTATATACATTTACGTATGTATAATACATGTATATATACGTATATAC ATTTACGTATGTATAATACATGTATATATACGTATATACATTTACGTATG TATAATACATGTATATATACGTATATACATTTACGTATGTATAATACATG TATATATACGTATATACATTTATGTATGTATAATACATGTATATATACGT ATATACATTTATGTATGTATAATACATGTATATATACGTATATACATTTA TGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTATAA TACATGTATATATACGTATATACATTTATGTATGTATAATACATGTATAT ATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATATA CATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507363	C C	CATACATA others(821): Show CATACATAAATGTATATACGTATATATACATGTATTATACATACATAAAT GTATATACGTATATATACATGTATTATACATACATAAATGTATATACGTA TATATACATGTATTATACATACATAAATGTATATACGTATATATACATGT ATTATACATACATAAATGTATATACGTATATATACATGTATTATACATAC ATAAATGTATATACGTATATATACATGTATTATACATACATAAATGTATA TACGTATATATACATGTATTATACATACGTAAATGTATATACGTATATAT ACATGTATTATACATACGTAAATGTATATACGTATATATACATGTATTAT ACATACGTAAATGTATATACGTATATATACATGTATTATACATACGTAAA TGTATATACGTATATATACATGTATTATACATACGTAAATGTATATACGT ATATATACATGTATTATACATACGTAAATGTATATATGTATATATACATG TATTATACATACGTAAATGTATATATACATTATACATACGTAAATGTATA TATGTATATATACATTATACATACGTAAATGTATATATGTATATATACAT TATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATG TATATATGTATATATACATTATACATACGTAAATGTATATATGTATATAT ACATTATACATACGTAAATGTATATATGTATATATACATTATACATACGT AAATGTATATATGTATATATACATTATACATACGTAAATGTATATATGTA TATATACATTATACATACATAAATGTATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp1 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0033 a0001c0001t0007g0033	2	388	0.0052	828	c.-23 others(845): Show c.-23+2684_-23+2685insAATACATTTATGTATGTATAATGTATAT ATACATATATACATTTACGTATGTATAATGTATATATACATATATACATT TACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAATG TATATATACATATATACATTTACGTATGTATAATGTATATATACATATAT ACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTAT AATGTATATATACATATATACATTTACGTATGTATAATGTATATATACAT ATATACATTTACGTATGTATAATGTATATATACATTTACGTATGTATAAT ACATGTATATATACATATATACATTTACGTATGTATAATACATGTATATA TACGTATATACATTTACGTATGTATAATACATGTATATATACGTATATAC ATTTACGTATGTATAATACATGTATATATACGTATATACATTTACGTATG TATAATACATGTATATATACGTATATACATTTACGTATGTATAATACATG TATATATACGTATATACATTTACGTATGTATAATACATGTATATATACGT ATATACATTTATGTATGTATAATACATGTATATATACGTATATACATTTA TGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTATAA TACATGTATATATACGTATATACATTTATGTATGTATAATACATGTATAT ATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATATA CATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(821): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATACATAAAAATTATATATATATTATATATACATA AAAATTATATATATATTATATATACATAAAAATTATATATATATTATATA TACATAAAAATTATATATATATTATATATACATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATAATATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTATATATATATATTATATATATA TAAAAATTATATATATATATTATATATATATAAAAATTATATATATATAT TATATATATATAAAAATTATATATATATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	272	0.0037	828	c.29 others(839): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATACATAAAAATTATATATA TATTATATATACATAAAAATTATATATATATTATATATACATAAAAATTA TATATATATTATATATACATAAAAATTATATATATATTATATATACATAA AAATTATATATATATTATATATATATAAAAATTATATATATATAATATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTATATATA TATATTATATATATATAAAAATTATATATATATATTATATATATATAAAA ATTATATATATATATTATATATATATAAAAATTATATATATATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(821): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGA GGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0130 a0001c0001t0023g0130	1	344	0.0029	828	c.218 others(845): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX2_chrX_8164944_8176267	8169101	C C	CCTCCCTC others(821): Show CCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCT CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACA CCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCC CCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCCACACACCT CTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC CACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCGACACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0002 a0018c0017t0002	a0018c0017t0002g0042 a0018c0017t0002g0042	1	115	0.0087	828	c.93 others(837): Show c.930_*931insAGGTGGTGTGTCGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		842		chrX	TogoVar
WDR7_chr18_56646359_57034792	57024604	G G	GCAGGAAT others(821): Show GCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTT CACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGT TATGTCCCTTATAGAATTTCACAAATCCCTATTCTCAGACAGGAATAGGG ATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTATGTCCCTTAC AGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTA TGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGG AATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACAT ATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGT CCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATG TGAACTATGGTAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTC AGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAAT TTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATA GTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAG GGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCC TATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTT ACAGGATTTCACATATCCCTATTCTCAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0058 a0001c0002t0004g0058	1	144	0.0069	828	c.427 others(847): Show c.4270-2381_4270-2380insACTATGATAGTTATGTCCCTTATAGA ATTTCACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGA TAGTTATGTCCCTTATAGAATTTCACAAATCCCTATTCTCAGACAGGAAT AGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATC CCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTATGTCCC TTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA GCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGG CAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTT ATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGA TATGTGAACTATGGTAGTTATGTCCCTTACAGGATTTCACATATCCCTAT TCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATA GAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTAT GATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGA ATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATA TCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTC CCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGT GA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(822): Show GTACTATATATATTTTATATATAGTATGTACATTGTATATACTATATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATATTATGTACTATATATATTTTATACATAGTATATACACTGTATATACT ATATATATTTTATACATAGTATATACACTGTATATACTATATATATTTTA TACATAGTATATACACTGTATATACTATATATATTTTATACATAGTATAT ACACTGTATATACTATATATATTTTATACATAGTATATACACTGTATATA CTATATATATTTTATACATAGTATATACACTGTATATACTATATATATTT TATACATAGTATATACACTGTATATACTATATATATTTTATACATAGTAT ATACACTGTATATACTATATATATTTTATACATAGTATATACACTGTATA TACTATATATATTTTATACATAGTATATACACTGTATATACTATATATAT TTTATACATAGTATATACACTGTATATACTATATATATTTTATACATAGT ATATATACTGTATATACTATATATATTTTATACATAGTATATATACTGTA TATACTATATATATTTTATACATAGTATATATACTGTATATACTATATAT ATTTTATATATAGTATATATACTGTATATACTATATATATTTTATATATA GTATATATACTGTATATACTATATATATTTTATATATAGTATATATACTG TATATACTATATATATTTTATATATAGTATATATACTGTATATACTATAT ATATTTTATATATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19083.hp1 HG02559.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0004 a0001c0001t0003 a0001c0003t0004	a0001c0001t0003g0045 a0001c0003t0004g0159 a0001c0001t0003g0045 a0001c0003t0004g0159	2	182	0.0110	829	c.505 others(848): Show c.505-41258_505-41257insTATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTA TATACAGTATATATACTATATATAAAATATATATAGTATATACAGTATAT ATACTATATATAAAATATATATAGTATATACAGTATATATACTATATATA AAATATATATAGTATATACAGTATATATACTATGTATAAAATATATATAG TATATACAGTATATATACTATGTATAAAATATATATAGTATATACAGTAT ATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATGTA TAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATATAT AGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACAGT GTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATG TATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATAT ATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACA GTGTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTA TGTATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATAT ATATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTACATA ATATACATAAAATATATATATAGTATATACAATGTACATACTATACATAA AATATATATATAGTATATACAATGTACATACTATATATAAAATATATATA GTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(822): Show GTACTATATATATTTTATATATAGTATGTACATTGTATATACTATATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATATTATGTACTATATATATTTTATACATAGTATATACACTGTATATACT ATATATATTTTATACATAGTATATACACTGTATATACTATATATATTTTA TACATAGTATATACACTGTATATACTATATATATTTTATACATAGTATAT ACACTGTATATACTATATATATTTTATACATAGTATATACACTGTATATA CTATATATATTTTATACATAGTATATACACTGTATATACTATATATATTT TATACATAGTATATACACTGTATATACTATATATATTTTATACATAGTAT ATACACTGTATATACTATATATATTTTATACATAGTATATACACTGTATA TACTATATATATTTTATACATAGTATATACACTGTATATACTATATATAT TTTATACATAGTATATATACTGTATATACTATATATATTTTATACATAGT ATATATACTGTATATACTATATATATTTTATACATAGTATATATACTGTA TATACTATATATATTTTATACATAGTATATATACTGTATATACTATATAT ATTTTATATATAGTATATATACTGTATATACTATATATATTTTATATATA GTATATATACTGTATATACTATATATATTTTATATATAGTATATATACTG TATATACTATATATATTTTATATATAGTATATATACTGTATATACTATAT ATATTTTATATATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0005 a0001c0001t0014g0005	1	182	0.0055	829	c.505 others(848): Show c.505-41258_505-41257insTATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTA TATACAGTATATATACTATATATAAAATATATATAGTATATACAGTATAT ATACTATATATAAAATATATATAGTATATACAGTATATATACTATATATA AAATATATATAGTATATACAGTATATATACTATGTATAAAATATATATAG TATATACAGTATATATACTATGTATAAAATATATATAGTATATACAGTAT ATATACTATGTATAAAATATATATAGTATATACAGTATATATACTATGTA TAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATATAT AGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACAGT GTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATG TATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATAT ATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACA GTGTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTA TGTATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATAT ATATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTACATA ATATACATAAAATATATATATAGTATATACAATGTACATACTATACATAA AATATATATATAGTATATACAATGTACATACTATATATAAAATATATATA GTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ANXA2_chr15_60342151_60402986	60349993	C C	CAGGGGAA others(822): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAAG GAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGAGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGGAAGGCAGGG AGGCAGGGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGC AGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGAGA AGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAG GGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAG GGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAG GGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAG GCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGG GAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGG AGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGG AGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGC AGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGA AGGCAGGGAGGCAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	334	0.0030	829	c.838 others(844): Show c.838-797_838-796insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCTCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTTGCCTTCCCCTGCCT CCCTGCCTTCCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCC TCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTT CCCCTGCCTCCCTGCCTTCTCCTGCCTCCCTGCCTTCCCCTCCCTCCCTG CCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTC CTTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(822): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC AGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAG CAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	246	0.0041	829	c.298 others(846): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCC GTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTG CTGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTC TGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCT GTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCT C	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACACGG others(822): Show TAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCATGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATAAAAATAC ATATATATATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACT TGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	336	0.0030	829	c.94+ others(844): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT GTATTTTTATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACC AGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCT GGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGAC TACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGT AGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCT CAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGT GAGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATC ATTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTAT AGCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGC CACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATT TTTGAGACAGTGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCATGA TCTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(822): Show TAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCATGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATAAAAATAC ATATATATATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACT TGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	336	0.0030	829	c.94+ others(844): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT GTATTTTTATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACC AGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCT GGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGAC TACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGT AGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCT CAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGT GAGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATC ATTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTAT AGCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGC CACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATT TTTGAGACAGTGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCATGA TCTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTTTTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(822): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCATGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATAAAAATAC ATATATATATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACT TGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18972.hp1 NA18979.hp1 others(4): Show NA18939.hp1 NA18972.hp1 NA18979.hp1 NA19002.hp2 NA19006.hp1 NA19011.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0097 a0001c0001t0002g0098 others(4): Show a0001c0001t0002g0053 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0108	7	336	0.0208	829	c.94+ others(844): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT GTATTTTTATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACC AGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCT GGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGAC TACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGT AGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCT CAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGT GAGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATC ATTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTAT AGCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGC CACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATT TTTGAGACAGTGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCATGA TCTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(822): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCATGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATAAAAATAC ATATATATATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACT TGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp2 others(50): Show HG00099.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00639.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01515.hp1 HG01517.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02071.hp1 HG02074.hp1 HG02165.hp1 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG03017.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03704.hp2 HG03927.hp2 HG04184.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18962.hp1 NA18968.hp2 NA18983.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19057.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0123 a0001c0001t0002g0001 a0001c0001t0002g0002 others(33): Show a0001c0001t0001g0123 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0121 a0001c0001t0004g0077 a0001c0001t0011g0204 a0001c0001t0011g0205 a0001c0001t0012g0075 a0001c0001t0012g0078	53	336	0.1577	829	c.94+ others(844): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT GTATTTTTATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACC AGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCT GGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGAC TACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGT AGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCT CAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGT GAGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATC ATTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTAT AGCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGC CACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATT TTTGAGACAGTGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCATGA TCTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(822): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATAAAAATAC ATATATATATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACT TGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0038 a0001c0001t0008g0038	1	336	0.0030	829	c.94+ others(844): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT GTATTTTTATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACC AGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAACCTCCGCCTCCT GGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGAC TACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGT AGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCT CAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGT GAGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATC ATTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTAT AGCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGC CACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATT TTTGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGA TCTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(822): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATAAAAACAC ATATATATATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACT TGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG02895.hp1 others(2): Show HG02622.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 others(2): Show a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114	5	336	0.0149	829	c.94+ others(844): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT GTGTTTTTATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACC AGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCT GGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGAC TACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGT AGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCT CAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGT GAGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATC ATTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTAT AGCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGC CACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATT TTTGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGA TCTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(822): Show TAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGAT CATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAAA ATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTGG CTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCTA TAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAATG ATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTCA CACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTGA GCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCTA CTAAAATACAAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATAAAAATAC ATATATATATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACT TGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02486.hp1 HG01891.hp1 HG02109.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0040 a0001c0001t0008g0041 a0001c0001t0008g0042	3	336	0.0089	829	c.94+ others(844): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT GTATTTTTATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACC AGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCT GGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGAC TACAGGCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTAG TAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGC TCAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTG TGAGCCACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAAT CATTATGGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTA TAGCTAAGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAG CCACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTAT TTTTGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATG ATCTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGC TAATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar

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Search Results (Total: 7053 hits)