Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(367): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGAGGGAGGGGG AGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGAGGGGG AGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	354	0.0028	374	c.-27 others(383): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTC CTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTC CCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCC CTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGC CGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCC TCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGCCCTCCCCTCCCCGCC CCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding					210		chr19	TogoVar
PRB3_chr12_11260914_11274707	11267546	T T	TCCTCCTT others(367): Show TCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGAC CTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGA TGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTC TGGCTTTCCCGGACGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTG GGGGTGGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGG TTTCCTCCTTGTGGGGGTTGTCCTTCTGGCTTTCCCGGATGAGGCGGGGG ACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCG GACGAGGCGGGGGACCTTGGGACTG	frameshift_variant frameshift_variant	HIGH	NA18944.hp2 NA19007.hp2 NA18944.hp2 NA19007.hp2	a0023 a0023	a0023c0020 a0023c0020	a0023c0020t0001 a0023c0020t0001	a0023c0020t0001g0026 a0023c0020t0001g0026	2	443	0.0045	374	c.702 others(381): Show c.702_703insCAGTCCCAAGGTCCCCCGCCTCGTCCGGGAAAGCCAGA AGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCGCCTCATC CGGGAAAGCCAGAAGGACAACCCCCACAAGGAGGAAACCAGTCCCAAGGT CCCCCACCTCGTCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGGAAA CCAGTCCCAAGGTCCCCCGCCTCGTCCGGGAAAGCCAGAAGGACCACCCC CACAAGGAGGAAACCAGTCCCAAGGTCCCCCGCCTCATCCGGGAAAGCCA GAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTCG TCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGG	p.Lys others(5): Show p.Lys235fs	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	740/1227	702/1056	234/351			chr12	TogoVar
RAB11FIP3_chr16_420649_528011	467916	A A	AGGGAAGT others(367): Show AGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGAC GTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGC GCTGGGGCGTCAGGGAGGAGGCGCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0058 a0001c0006t0058	a0001c0006t0058g0111 a0001c0006t0058g0111	1	295	0.0034	374	c.809 others(391): Show c.809-3376_809-3375insAAGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTG GGGCGTCAGGGAGGAGGCGCTGGGGCGTCAGGGAGGAGGCGCTGGG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAD21L1_chr20_1221044_1260876	1259529	A A	AGATCTTC others(367): Show AGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTA GGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCT CTGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATA AACACATAAAGCTCTGCTTCTTGGTAACTGATTTGGTATCTTCCCTCTTT TCTAATATAAACACATAAAGCTCTGTTTCCTTCTTGGTAACTGGTTTGAG ATCTTCCCTCTTTTATAATATAAACACATAAAGCTCTGTTTCCTTCTAGG TAACTGATTTGGGATCATCCCTCTTTTCTAATATAAACACATAAAGCTCT GTTTCCTTCTTGGTAACTGATTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA19001.hp2 NA19064.hp1 HG06807.hp1 NA19001.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0094 a0001c0001t0001g0130 a0002c0002t0002g0079 a0001c0001t0001g0094 a0001c0001t0001g0130 a0002c0002t0002g0079	3	364	0.0082	374	c.50 others(385): Show c.5072_*5073insGATCTTCCCTCTTTTCTAATATAAACACATAAAG CTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATA TAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCC CTCTTTTCTAATATAAACACATAAAGCTCTGCTTCTTGGTAACTGATTTG GTATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTT GGTAACTGGTTTGAGATCTTCCCTCTTTTATAATATAAACACATAAAGCT CTGTTTCCTTCTAGGTAACTGATTTGGGATCATCCCTCTTTTCTAATATA AACACATAAAGCTCTGTTTCCTTCTTGGTAACTGATTTGG		RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding					3654		chr20	TogoVar
RAD21L1_chr20_1221044_1260876	1259597	T T	TTCCCTCT others(367): Show TTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAA CTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGCT TCTTGGTAACTGATTTGGTATCTTCCCTCTTTTCTAATATAAACACATAA AGCTCTGTTTCCTTCTTGGTAACTGGTTTGAGATCTTCCCTCTTTTATAA TATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCAT CCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTTGGTAACT GATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTC CTTCTAGGTAACTGATTTGGGATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 NA20129.hp1 HG01496.hp1 NA20129.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0076 a0007c0010t0002g0077 a0007c0010t0002g0076 a0007c0010t0002g0077	2	364	0.0055	374	c.51 others(385): Show c.5140_*5141insTCCCTCTTTTCTAATATAAACACATAAAGCTCTG TTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAAC ACATAAAGCTCTGCTTCTTGGTAACTGATTTGGTATCTTCCCTCTTTTCT AATATAAACACATAAAGCTCTGTTTCCTTCTTGGTAACTGGTTTGAGATC TTCCCTCTTTTATAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAA CTGATTTGGGATCATCCCTCTTTTCTAATATAAACACATAAAGCTCTGTT TCCTTCTTGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACAC ATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCA		RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding					3722		chr20	TogoVar
RASA3_chr13_113972783_114137623	114120048	C C	CTCTCTCC others(367): Show CTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGC GTCGATCAGGGCCCCCCCTTCTCTCCAGCCAGGCGTCGATCAGGGCCCCT CCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAG GCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCC CTCCCTCTCTCCAGCCAGGCGTCGATCAAGTCCCCCCCTTCTCTCCAGCC AGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGC CCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAG CCAGGCGTCGATCAAGTCCCCCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18522.hp2 HG01361.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0065 a0001c0001t0005g0023 a0001c0001t0001g0065 a0001c0001t0005g0023	2	67	0.0299	374	c.55+ others(391): Show c.55+12386_55+12387insAGGGGGGGACTTGATCGACGCCTGGCTG GAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCC CTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGC TGGAGAGAAGGGGGGGACTTGATCGACGCCTGGCTGGAGAGAGGGAGGGG CCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTG GCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGG GGCCCTGATCGACGCCTGGCTGGAGAGAAGGGGGGGCCCTGATCGACGCC TGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGA		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(367): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGG GGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGGA GGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGG AGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGA CGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	318	0.0031	374	c.36 others(385): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAG GGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGG AGGGGGAGGAGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGG GCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
RERE_chr1_8347404_8822640	8441930	T T	TCAATACA others(367): Show TCAATACACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTACAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACT ACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0094 a0002c0006t0003g0094	1	204	0.0049	374	c.120 others(395): Show c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTGTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGTGTGTATTG		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	11/22						chr1	TogoVar
RGS7_chr1_240770514_241362205	240932689	T T	TAGTAGAG others(367): Show TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTG TGAGCCACTGTGCCCGGCCTAAAAACGATTTTCTGATATGCTATTTCTTA GGTTTTATAAGAGATATATTTCTACTTTGGTATCTTTCTTTTTTTTTTTT TTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCACCA CGCCCGGCTAATTTTTTGTATTTTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	112	0.0089	374	c.334 others(391): Show c.334-1922_334-1921insGAAAATACAAAAAATTAGCCGGGCGTGG TGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA GTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAGAAAGATACCAAAGTAGAAATATATCTCTTATAAAACCTAA GAAATAGCATATCAGAAAATCGTTTTTAGGCCGGGCACAGTGGCTCACAC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAG GAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT		RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	5/18						chr1	TogoVar
RNF17_chr13_24759169_24884921	24881899	T T	TATAGATA others(367): Show TATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA TAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATA TATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATC TAGATAGATATATAGATACATCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	426	0.0024	374	c.21 others(385): Show c.2173_*2174insATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAGATAGATATATAGATACATCTAG		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					1979		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTAGATAG others(367): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA19086.hp2 NA18974.hp2 NA19086.hp2	a0001 a0022 a0001 a0022	a0001c0002 a0022c0027 a0001c0002 a0022c0027	a0001c0002t0001 a0022c0027t0001 a0001c0002t0001 a0022c0027t0001	a0001c0002t0001g0048 a0022c0027t0001g0108 a0001c0002t0001g0048 a0022c0027t0001g0108	2	426	0.0047	374	c.22 others(385): Show c.2236_*2237insTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTATA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(367): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	426	0.0024	374	c.22 others(385): Show c.2236_*2237insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2042		chr13	TogoVar
RNF213_chr17_80255852_80403794	80355600	G G	GGGGAAGA others(367): Show GGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGG GGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAAT GGGGGCTTACAGGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGG AGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGG GTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATG GGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGA GGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGG GTGAACGGGAATGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0017 a0017	a0017c0032 a0017c0032	a0017c0032t0016 a0017c0032t0016	a0017c0032t0016g0275 a0017c0032t0016g0275	1	292	0.0034	374	c.108 others(395): Show c.10862+1026_10862+1027insGAAGAAGCGGGGTGAACGGGAATG GGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGG GAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGG TGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGG GGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGG AAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGT GGACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGG GGCTTACAGGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS21_chr20_62382103_62393520	62382277	A A	AGTGATGG others(367): Show AGTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGAT GGTGATGATGGTATTGACGATGATGATGACGGTGGTGATGGTGGTGGTGA TGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGATG GTGGTGGTGATGGTGATGGTGACGATGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGATGATGGTGATGGTGGTGATGATGGTGATGCTGATGGTGG TGGTGATGATGGTGATGGTGAGGATGATGGTGATGGTGGTCATGATGGTG ATGATGGTGGTGATGATGATGGTGATGGTGGTGGTGATGATGGTGATGGT GGTGATGATGGAGGAGACGGTGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG04199.hp2 NA20905.hp2 HG03669.hp1 HG04199.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	412	0.0073	374	c.-48 others(385): Show c.-4878_-4877insGTGATGGTGATATTGATGATGTGATGATGATGGT GGTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGATGACGGTGG TGATGGTGGTGGTGATGGTGATGGTGATGATGGTGGTGGTGGTGATGGTG ATGGTGGTGATGATGGTGGTGGTGATGGTGATGGTGACGATGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGGTGGTGATGATGG TGATGCTGATGGTGGTGGTGATGATGGTGATGGTGAGGATGATGGTGATG GTGGTCATGATGGTGATGATGGTGGTGATGATGATGGTGATGGTGGTGGT GATGATGGTGATGGTGGTGATGATGGAGGAGACGGTGATG		RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding					4825		chr20	TogoVar
RTN1_chr14_59590983_59875776	59750553	A A	ATATATCT others(367): Show ATATATCTATAATATATATATATCTATAATATATAATATATCTATAATAT ATAATATATCTATAATATATAATATATCTATAATATATAATATATCTATA ATATATATATTATAGATATAATATATAATATATTATATCTATAATATATA ATATATTATATATAATATATTATATCTATAATATATAATATATTATATAT AATATATTATATATTATATCTATAATATATAATATATTATATCTATAATA TATTATATGTAATATATATGTTATATCTATAATATATATTATATCTATAA TATATAATATATTATATCTATAAATATAATATATTATATCTATAATATAT AATATATTATATCTATAATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19082.hp1 HG02040.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0142 a0001c0001t0001g0044 a0001c0001t0001g0142	2	172	0.0116	374	c.242 others(391): Show c.242-4073_242-4072insATATATATTATAGATATAATATATTATA TATTATAGATATAATATATTATATTTATAGATATAATATATTATATATTA TAGATATAATATATATTATAGATATAACATATATATTACATATAATATAT TATAGATATAATATATTATATATTATAGATATAATATATAATATATTATA TATAATATATTATATATTATAGATATAATATATTATATATAATATATTAT ATATTATAGATATAATATATTATATATTATATCTATAATATATATATTAT AGATATATTATATATTATAGATATATTATATATTATAGATATATTATATA TTATAGATATATTATATATTATAGATATATATATATTATAGATATA		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RTN1_chr14_59590983_59875776	59750664	T T	TATATCTA others(367): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATAATATATCTATAATATATATATTATATATATAATATATAATATATT ATATATATAATATATAATATATTATATATATAATATATAATATATTATAT CTATAATATATTATATGTAATATATATATGTTATATCTATAATATATATT ATATCTATAATATATAATATATTATATCTATAATATATAATATATTATAT CTATAATATATAATATATTATATCTATAAATATAATATATTATATCTATA ATATATAATATATTATATCTATATATATAATATATATATTATATCTATAA TATATATATTATATCTATAAATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01175.hp2 HG00280.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0085 a0001c0001t0001g0056 a0001c0001t0001g0085	2	172	0.0116	374	c.242 others(391): Show c.242-4184_242-4183insTATATTTATAGATATAATATATATATTA TAGATATAATATATATATTATATATATAGATATAATATATTATATATTAT AGATATAATATATTATATTTATAGATATAATATATTATATATTATAGATA TAATATATTATATATTATAGATATAATATATTATATATTATAGATATAAT ATATATTATAGATATAACATATATATATTACATATAATATATTATAGATA TAATATATTATATATTATATATATAATATATTATATATTATATATATAAT ATATTATATATTATATATATAATATATATATTATAGATATATTATATATT ATAGATATATTATATATTATAGATATAATATATATATTATAGATAT		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(367): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGAGGGAGGGAGGGGGA GGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGA GGAGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAG AGGAAGAAGAGGAAGAGGAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGA GAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGG AGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18986.hp1 NA18988.hp1 others(1): Show NA18947.hp2 NA18986.hp1 NA18988.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0035 a0001c0001t0002g0066 a0001c0001t0002g0067 others(1): Show a0001c0001t0002g0035 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0015g0068	4	396	0.0101	374	c.807 others(391): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCTCC CCCTCCCTCCCTCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCC CTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCC CTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC		RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8						chr6	TogoVar
RTP3_chr3_46492976_46505950	46494996	C C	CGGGAGGG others(367): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCACCCCCCCGCCCGGCCAGCTGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCACCCCCCCGCCCGGCCAGCTGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCATCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 NA21309.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	426	0.0047	374	c.-30 others(385): Show c.-3067_-3066insGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCACCCCCCCGCCCGG CCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCACCCCCCCGCCCGGCC AGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCGCCCGGC CAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCT		RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding					2979		chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1288347	C C	CCGTGTCT others(367): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCC CCGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0289 a0005c0015t0001g0289	1	290	0.0035	374	c.166 others(391): Show c.1662+311_1662+312insGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCCCCGCTCCATTCCCTGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(367): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGTTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGGTGGGATGGATGGGTGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGATGGATGGG TGGGATGGATGGATGGGTGGGTGGGATGGATGGGTGGATGGATGGATGGG TGGGATGGATGGATGGGTGGGATGGATGGATGGATGGATGGATGGATGGG TGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGATGGA TGGGTGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	189	0.0053	374	c.198 others(393): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGTTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGGTGGGATGGATGGGTGGGATGGATGGAT GGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGATGGA TGGGTGGGATGGATGGATGGGTGGGTGGGATGGATGGGTGGATGGATGGA TGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGATGGATGGA TGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGA TGGATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGATGGGTGG		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SIGIRR_chr11_400716_419999	401641	A A	ACCCGGCC others(367): Show ACCCGGCCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACAC CCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACCACCCGCCCCG CTCACCCCCGGCCCCGCTCACCCCCCGGCCCCGCTCACACCCGCCCCGCT CACACCCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCC CGCTCACCCCCCGGCCCCGCTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0064 a0005c0009t0001g0064	1	242	0.0041	374	c.42 others(385): Show c.4254_*4255insGGTGAGCGGGGCCGGGGGGTGAGCGGGGCGGGTG TGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGC GGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG CCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGG TGGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTG AGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCG GGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGGCCGGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4074		chr11	TogoVar
SIGLEC11_chr19_49943985_49966172	49944051	T T	TAAAAAAT others(367): Show TAAAAAATTAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	452	0.0022	374	c.59 others(385): Show c.5918_*5919insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGCTAATTTTTT		SIGLEC11	ENSG00000161640.15	transcript	ENST00000447370.6	protein_coding					4933		chr19	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(367): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGC CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	314	0.0032	374	c.209 others(391): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCGG CCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC		SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17						chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(367): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGC CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02083.hp1 HG01256.hp2 HG02083.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0214 a0003c0005t0001g0219 a0001c0001t0001g0214 a0003c0005t0001g0219	2	314	0.0064	374	c.209 others(391): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCGG CCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC		SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17						chr2	TogoVar
SLC35F1_chr6_117902264_118322671	117923680	T T	TATGTACA others(367): Show TATGTACATATATACATATGTATATATACATATATGTACATATGTACATA TATACATATGTACATATGTACATATGTATATATACATATATGTACATATA TACATATGTATATATACATATATGTACATATGTACATATATACATATGTA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TGTATATATACATATATGTACATATGTACATATATACATATACATATGTA CATATACACATATACATATGTATATATACATATATGTACACATGTACATA TACATATGTATATATGTACATATGTACATATATGTATATATACATATGTA TATATACATATATGTACATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0158 a0001c0001t0063g0158	1	182	0.0055	374	c.173 others(393): Show c.173+15783_173+15784insGTACATATATACATATGTATATATAC ATATATGTACATATGTACATATATACATATGTACATATGTACATATGTAT ATATACATATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATACATATGTATATATACATATGTATATATACATATATGT ACATATGTACATATATACATATGTATATATACATATATGTACATATGTAC ATATATACATATACATATGTACATATACACATATACATATGTATATATAC ATATATGTACACATGTACATATACATATGTATATATGTACATATGTACAT ATATGTATATATACATATGTATATATACATATATGTACATATATACAT		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC66A2_chr18_79897420_79956653	79916262	A A	AGTGCTCC others(367): Show AGTGCTCCCCGTACCCTCCCATACCCACGGTGCTCCCGTACCCATGGTGC TCTCATTGCCGCAGTGCTCCCGTACCCTCCCATACCCACGGTGCTCCCGT ACCCTCCCATACCCACGGTGCTCCCGTACCCATGGCGCTCCCATACCCAC AGCGCTCCCGTACCCACGGTGCTCTCATAGCCGCAGTGCTCCCGTACCCT CCCATACCCACGGTGCTCCCGTACCCATGGCGCTCCCATACCCACAGCGC TCCCGTACCCACGGTGCTCTCATACCCGCAGTGCTCCCGTACCCTCCCAT ACCCACGGTGCTCCCGTACCCATGGTGCTCCCGTACCCGCGGCGCTCTTG TACCTGCGGCACTCCCGTACCCGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0271 a0001c0001t0007g0271	1	352	0.0028	374	c.608 others(391): Show c.608+2921_608+2922insCACGGGTACGGGAGTGCCGCAGGTACAA GAGCGCCGCGGGTACGGGAGCACCATGGGTACGGGAGCACCGTGGGTATG GGAGGGTACGGGAGCACTGCGGGTATGAGAGCACCGTGGGTACGGGAGCG CTGTGGGTATGGGAGCGCCATGGGTACGGGAGCACCGTGGGTATGGGAGG GTACGGGAGCACTGCGGCTATGAGAGCACCGTGGGTACGGGAGCGCTGTG GGTATGGGAGCGCCATGGGTACGGGAGCACCGTGGGTATGGGAGGGTACG GGAGCACCGTGGGTATGGGAGGGTACGGGAGCACTGCGGCAATGAGAGCA CCATGGGTACGGGAGCACCGTGGGTATGGGAGGGTACGGGGAGCAC		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5						chr18	TogoVar
SMIM36_chr17_55444856_55516452	55501102	A A	ATTATAAT others(367): Show ATTATAATATATAATATATATTATATTTTATATTATAATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATACATTATATTTTATGATATA TAATATATATTATATTTTATGATATATAATATATATTATATTTTATGATA TATAATATATATTATATTTTATGATATATATTATATATTATATTTTATGA TATATAATATATTTTATATTTTATG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	340	0.0029	374	c.17 others(393): Show c.174+9776_*174+9777insCATAAAATATAAAATATATTATATAT CATAAAATATAATATATAATATATATCATAAAATATAATATATATTATAT ATCATAAAATATAATATATATTATATATCATAAAATATAATATATATTAT ATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATT ATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATA TTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTA TATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATG TATATTATATATTATAATATAAAATATAATATATATTATATATTATAA		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501102	A A	ATTATAAT others(367): Show ATTATAATATATAATATATATTATATTTTATATTATAATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATATATTATATTTTATGATATA TAATATATATTATATTTTATGATATATAATATATATTATATTTTATGATA TATAATATATATTATATTTTATGATATATATTATATATTATATTTTATGA TATATAATATATTTTATATTTTATG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19082.hp2 NA19011.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0220 a0001c0001t0004g0173 a0001c0001t0003g0220 a0001c0001t0004g0173	2	340	0.0059	374	c.17 others(393): Show c.174+9776_*174+9777insCATAAAATATAAAATATATTATATAT CATAAAATATAATATATAATATATATCATAAAATATAATATATATTATAT ATCATAAAATATAATATATATTATATATCATAAAATATAATATATATTAT ATATCATAAAATATAATATATATTATATATCATAAAATATAATGTATATT ATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATA TTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTA TATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATG TATATTATATATTATAATATAAAATATAATATATATTATATATTATAA		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SNX9_chr6_157818246_157950077	157827261	A A	AAATATAT others(367): Show AAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAA TATATAAAATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	302	0.0033	374	c.12+ others(389): Show c.12+3816_12+3817insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(367): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18984.hp2 NA19000.hp1 others(1): Show NA18963.hp2 NA18984.hp2 NA19000.hp1 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0017 a0001c0006t0012 a0001c0006t0014 a0001c0003t0017 a0001c0006t0012 a0001c0006t0014	a0001c0003t0017g0308 a0001c0006t0012g0307 a0001c0006t0012g0310 others(1): Show a0001c0003t0017g0308 a0001c0006t0012g0307 a0001c0006t0012g0310 a0001c0006t0014g0306	4	356	0.0112	374	c.-11 others(395): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(367): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18942.hp2 HG01081.hp1 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0117 a0001c0003t0016 a0001c0002t0117 a0001c0003t0016	a0001c0002t0117g0309 a0001c0003t0016g0092 a0001c0002t0117g0309 a0001c0003t0016g0092	2	356	0.0056	374	c.-11 others(395): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190182	T T	TATAATGA others(367): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATATAACATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01975.hp2 HG01256.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0004 a0001c0001t0011 a0001c0003t0004	a0001c0001t0011g0290 a0001c0003t0004g0189 a0001c0001t0011g0290 a0001c0003t0004g0189	2	356	0.0056	374	c.-11 others(395): Show c.-112+29252_-112+29253insAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT TATATAACATATAATGATATATAATATATATCATTATATAACATATAATG ATATATAATATATATCATTATATAACATATAATGATATATAATATATATC ATTATATAACATATAATGATATATAATATATATCATTATATAACATATAA TGATATATAATATATATCATTATATAACATATAATGATATATAATATATA TCATTATATAACATATAATGATATATAATATATATCATATAACATATAAT		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(367): Show AGGGGAGGGGAGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAGGGG AGGGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGGAGG GGAGGGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0180 a0002c0002t0002g0180	1	260	0.0039	374	c.138 others(393): Show c.1384-5708_1384-5707insCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCC CTCCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTC CCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCTCCCC		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15						chr1	TogoVar
SYCE3_chr22_50546112_50567919	50562307	A A	AGGGGTGA others(367): Show AGGGGTGAGGCGGGGTGAGGGGTGAGGGGTGAGGCGGGGTGAGGGGTGAG GCGGGGTGAGGGGTGAGGCGGGGTGAGGGGTGAGGCGGGGTGAGGGGTGA GGGGTGAGGCGGGGTGAGGAGGGGTGAGGGGTGAGGGGCGAGGCGGGGTG AGGGGTGAGGCGGGGTGAGGGGTGAGGCGGGGTGAGGGGTGAAGGGTGAG GCGGGGTGAGGGGTGAGGCGGGGTGAGGGGTGAGGCGGGGTGAGGGGTGA GGGGTGAGGCGGGGTCAGGAGGGGTGAGGGGTGAGGGGCGAGGCGGGGTG AGGGGTGAGGCTGGGTGAGGAGGCGGGTGAGCGGTGACGTGAGCGATGAG GGGTGAGGGGCGAGGCGGGTGAGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	414	0.0024	374	c.-1+ others(387): Show c.-1+550_-1+551insGCCTCACCCGCCTCGCCCCTCACCCCTCATCG CTCACGTCACCGCTCACCCGCCTCCTCACCCAGCCTCACCCCTCACCCCG CCTCGCCCCTCACCCCTCACCCCTCCTGACCCCGCCTCACCCCTCACCCC TCACCCCGCCTCACCCCTCACCCCGCCTCACCCCTCACCCCGCCTCACCC TTCACCCCTCACCCCGCCTCACCCCTCACCCCGCCTCACCCCTCACCCCG CCTCGCCCCTCACCCCTCACCCCTCCTCACCCCGCCTCACCCCTCACCCC TCACCCCGCCTCACCCCTCACCCCGCCTCACCCCTCACCCCGCCTCACCC CTCACCCCGCCTCACCCCTCACCCCTCACCCCGCCTCACCCC		SYCE3	ENSG00000217442.4	transcript	ENST00000406915.4	protein_coding	1/2						chr22	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(367): Show AGAGGGAGGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGG GAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGG GGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAG AGAGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0145	1	276	0.0036	374	c.-18 others(393): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCTCTC TCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCC CCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCCTCCCTC		SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8						chr1	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(367): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC AGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGG GGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01081.hp1 HG02738.hp2 others(4): Show HG01069.hp1 HG01081.hp1 HG02738.hp2 HG03654.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0044 a0011c0037 a0001c0001 a0001c0044 a0011c0037	a0001c0001t0001 a0001c0001t0004 a0001c0044t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0044t0001 a0011c0037t0001	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 others(4): Show a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0004g0090 a0001c0001t0004g0097 a0001c0044t0001g0206 a0011c0037t0001g0029	7	314	0.0223	374	c.309 others(393): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCCCAC GCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCC CCTGCTGCACCCTCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCCCT CCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCTG CCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCC CCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(367): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGCAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGTGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCGT GGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGGCGGCGGGAGGAGGGAGGGCATGGG GGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	314	0.0032	374	c.309 others(393): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCCTCCCTCCTCCCGCCGCCCCCT CCCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCA CGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCC GCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCT CCCTCTCCCCGCCACCCCCTCCCTCCCCCCACCACCCCCTCCTTTGCCCG CCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCC CCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(367): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGC GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGG GGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	314	0.0032	374	c.309 others(393): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCAC GCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCG CCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCCGCCACCCCT CCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCG CCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCC CCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(367): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCGT GGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGG GGAGGGAGGGGGCGGCGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	314	0.0032	374	c.309 others(393): Show c.3091-8707_3091-8706insCTCCCCCCCGCCGCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCT CCCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCA CGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCC GCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCT CCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCG CCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCC CCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(367): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCGT GGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGG GGAGGGAGGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0026 a0026	a0026c0038 a0026c0038	a0026c0038t0001 a0026c0038t0001	a0026c0038t0001g0030 a0026c0038t0001g0030	1	314	0.0032	374	c.309 others(393): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCT CCCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCA CGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCC GCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCT CCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCG CCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCC CCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(367): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCGT GGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGG GGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	314	0.0032	374	c.309 others(393): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCT CCCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCA CGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCC GCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCT CCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCG CCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCC CCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(367): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCGT GGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGGCGGCGGGAGGAGGGAGGGCATGGG GGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0312 a0001c0017t0001g0312	1	314	0.0032	374	c.309 others(393): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCCTCCCTCCTCCCGCCGCCCCCT CCCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCA CGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCC GCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCT CCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCG CCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCC CCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(367): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGGAGGGAGGGCG TGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGG GGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0014 a0004c0010t0001g0014	1	314	0.0032	374	c.309 others(393): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCAC GCCCTCCCTCCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCC GCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCT CCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCG CCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCC CCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(367): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGGCGGCGGGGGGGAGGGAGGGCG TGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGG GGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	314	0.0032	374	c.309 others(393): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCAC GCCCTCCCTCCCCCCCGCCGCCCCCCTCCCTCCCCCCACGCCCTCCATCC GCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCT CCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCG CCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCC CCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(367): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGGTGGCGGGGAGAGGG AGGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGC GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGG GGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0030 a0030	a0030c0030 a0030c0030	a0030c0030t0001 a0030c0030t0001	a0030c0030t0001g0022 a0030c0030t0001g0022	1	314	0.0032	374	c.309 others(393): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCAC GCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCG CCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCTC CCTCTCCCCGCCACCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCG CCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCC CCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(367): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GGAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGG CGGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGG AGGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGC GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGG GGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	314	0.0032	374	c.309 others(393): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCAC GCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCG CCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCTC CCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGC CGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCC CCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14						chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	47128187	C C	CTCCCCTC others(367): Show CTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCG CCCCACCCATCCCTCCCTCGCCCTAACCCATCCTCCTCCGCCCCACCCAC CCCCCCTCCGCCCCACCCATCCCCCCCTCCCCTCACCCATCCCTCCCTCC GCCCCACCCATCCCCCCCTCCCCTCACCCATCCCTCCCTCCCCCCCACCC ATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCT CCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCTTCCCTCCA CCCCACCCATTCTCCCCTCCACCCCCACCCCATCCCCCATCCTCCCTCCA CCCCACCCATCCCTCCTCCGCCCCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	112	0.0089	374	c.142 others(395): Show c.1425+16584_1425+16585insTCCCCTCTGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCGCCCTA ACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCC CCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCCCCCTCCCCTC ACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCT CACCCATCCCTCCATCTTCCCTCCACCCCACCCATTCTCCCCTCCACCCC CACCCCATCCCCCATCCTCCCTCCACCCCACCCATCCCTCCTCCGCCCCA		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12						chr22	TogoVar
TBCD_chr17_82747065_82950914	82765367	C C	CTGTGTGC others(367): Show CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTC ATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTCTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGC GGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCT GTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTT TCTTACAAGCTTGCGGGTGTCTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(74): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18967.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19065.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0007 others(5): Show a0001 a0002 a0007 a0010 a0012 a0014 a0015 a0019	a0001c0001 a0001c0002 a0001c0014 others(10): Show a0001c0001 a0001c0002 a0001c0014 a0001c0015 a0002c0003 a0002c0006 a0002c0011 a0007c0016 a0010c0020 a0012c0021 a0014c0035 a0015c0037 a0019c0045	a0001c0001t0002 a0001c0001t0026 a0001c0001t0028 others(18): Show a0001c0001t0002 a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0001c0002t0030 a0001c0002t0040 a0001c0014t0001 a0001c0015t0001 a0002c0003t0003 a0002c0003t0015 a0002c0003t0018 a0002c0006t0003 a0002c0006t0005 a0002c0006t0009 a0002c0011t0003 a0007c0016t0001 a0010c0020t0003 a0012c0021t0009 a0014c0035t0001 a0015c0037t0003 a0019c0045t0003	a0001c0001t0002g0223 a0001c0001t0002g0301 a0001c0001t0002g0304 others(74): Show a0001c0001t0002g0223 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0309 a0001c0001t0002g0317 a0001c0001t0026g0287 a0001c0001t0028g0213 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0252 a0001c0002t0001g0255 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0286 a0001c0002t0030g0244 a0001c0002t0040g0254 a0001c0014t0001g0273 a0001c0014t0001g0274 a0001c0015t0001g0264 a0001c0015t0001g0289 a0002c0003t0003g0006 a0002c0003t0003g0205 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0210 a0002c0003t0003g0211 a0002c0003t0003g0212 a0002c0003t0003g0216 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0224 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0282 a0002c0003t0003g0293 a0002c0003t0003g0297 a0002c0003t0003g0300 a0002c0003t0003g0302 a0002c0003t0003g0306 a0002c0003t0003g0308 a0002c0003t0003g0310 a0002c0003t0003g0312 a0002c0003t0003g0316 a0002c0003t0015g0296 a0002c0003t0015g0303 a0002c0003t0018g0202 a0002c0003t0018g0203 a0002c0003t0018g0204 a0002c0006t0003g0313 a0002c0006t0005g0214 a0002c0006t0005g0215 a0002c0006t0005g0311 a0002c0006t0009g0251 a0002c0006t0009g0275 a0002c0006t0009g0276 a0002c0006t0009g0288 a0002c0011t0003g0295 a0007c0016t0001g0318 a0010c0020t0003g0207 a0012c0021t0009g0272 a0014c0035t0001g0277 a0015c0037t0003g0305 a0019c0045t0003g0307	77	318	0.2421	374	c.334 others(389): Show c.334-898_334-897insTGTGCTCATAGTCTGCTTTTCTTACAAGCT TGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGC TTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTA CAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTG TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTG		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(367): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTC TCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02523.hp1 NA18943.hp1 others(2): Show HG01346.hp1 HG02523.hp1 NA18943.hp1 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 others(2): Show a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0122 a0001c0001t0002g0214	5	268	0.0187	374	c.186 others(391): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCC CTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCC		TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(367): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CTCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCC TCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTC TCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	268	0.0037	374	c.186 others(391): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCTCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCC CTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCC CTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCC		TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar

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