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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(423): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATTATTATTTTTATATATTAATATATATATATATAAA TATATTAATATATAAATATATTATTATATAATAATAATATATTAATATAT AAATATATTAATATAAAAATATTAATATATAAATATATATTAAATTATAT ATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATAT ACATATTTAAAGATATATATATTTAAATATATATATTTTTAATATATATA TTTTTAAATATATATATATTTATATATATATTTTTATATATATATATTTA TATATATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0082 a0001c0008t0001g0082	1	408	0.0025	430	c.182 others(447): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATTATTATTTTTATATATTAATATATATATA TATAAATATATTAATATATAAATATATTATTATATAATAATAATATATTA ATATATAAATATATTAATATAAAAATATTAATATATAAATATATATTAAA TTATATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTT AAATATACATATTTAAAGATATATATATTTAAATATATATATTTTTAATA TATATATTTTTAAATATATATATATTTATATATATATTTTTATATATATA TATTTATATATATATTTTTAAATATATATATATATTTATATATATATTTA AA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
SARDH_chr9_133658560_133743352	133668443	T T	TACCCTCC others(423): Show TACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTC ACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCT CACCCTCACCCTCCCTCTCCCTCACCCTCACCCTCCCTCTCCCTCACCCT CCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCT CCCTCTCCCCTCGCCCTCCCCTCTCCCCTCACCCTCACCCTCCCTCTCCC TCACCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTCGCCCTCCC TCTCCCCCTCACCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCA CCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCAC CCTCCCTCTCCCCTTACCCTCCCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0004 a0003c0017t0004	a0003c0017t0004g0005 a0003c0017t0004g0005	1	262	0.0038	430	c.249 others(449): Show c.2496-1574_2496-1573insGAGGGAGGGGGAGGGTAAGGGGAGAG GGAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGG GAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGTGAGGG GGAGAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAG GGTGAGGGAGAGGGAGGGTGAGGGTGAGGGGAGAGGGGAGGGCGAGGGGA GAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGGA GAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGA GGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGG AGGGTGAGGGAGAGAGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGA GGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1156927	C C	CAGGACCC others(423): Show CAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACC CGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCACCACC CCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGA ACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCA CCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCACCCTCTG CAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCC CCAGGACCCGCCACTCCTGAGAACGCCCACCCTCTGCAATCCCTCAGGAC CCGCCACTCCTGAGAACGCCCACCCTCTGCAATCCCTCAGGACCCGCCAC TCCTGAGAACGCCCACCCTCTGCAATCCCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0013 a0013	a0013c0031 a0013c0031	a0013c0031t0005 a0013c0031t0005	a0013c0031t0005g0033 a0013c0031t0005g0033	1	203	0.0049	430	c.-12 others(449): Show c.-126-2526_-126-2525insAAGGGATTGCAGAGGGTGGGCGTTCT CAGGAGTGGCGGGTCCTGAGGGATTGCAGAGGGTGGGCGTTCTCAGGAGT GGCGGGTCCTGAGGGATTGCAGAGGGTGGGCGTTCTCAGGAGTGGCGGGT CCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGG GATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCA GAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTG GGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTC TCAGGGGTGGTGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGG TGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGG TCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1156927	C C	CAGGACCC others(423): Show CAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACC CGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACC CCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGA ACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCA CCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCACCCTCTG CAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCC CCAGGACCCGCCACTCCTGAGAACGCCCACCCTCTGCAATCCCTCAGGAC CCGCCACTCCTGAGAACGCCCACCCTCTGCAATCCCTCAGGACCCGCCAC TCCTGAGAACGCCCACCCTCTGCAATCCCTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0030 a0001c0016t0005g0030	1	203	0.0049	430	c.-12 others(449): Show c.-126-2526_-126-2525insAAGGGATTGCAGAGGGTGGGCGTTCT CAGGAGTGGCGGGTCCTGAGGGATTGCAGAGGGTGGGCGTTCTCAGGAGT GGCGGGTCCTGAGGGATTGCAGAGGGTGGGCGTTCTCAGGAGTGGCGGGT CCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGG GATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCA GAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTG GGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTC TCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGG TGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGG TCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1288511	T T	TCCCGTGT others(423): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	290	0.0035	430	c.166 others(447): Show c.1662+482_1662+483insTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTG TC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289093	C C	CCGTGTCT others(423): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0073 a0007c0005t0001g0073	1	290	0.0035	430	c.166 others(449): Show c.1662+1057_1662+1058insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(423): Show GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCT TCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACG CCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0085 a0001c0001t0010g0085	1	330	0.0030	430	c.970 others(449): Show c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGA GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGAT GCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG AGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAG GCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGG CGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281142	C C	CGGCGGCG others(423): Show CGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGC GGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATC TTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAG AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGAC GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAG AAGACAGGTGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAG GCGGCGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT CTTCAGAGAGAGGACGCCTGAGAAGACAGGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	330	0.0030	430	c.970 others(449): Show c.970-21834_970-21833insCGGCGGCGATCTTCAGAGAGCGGACG CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA GGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGG CGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAG AGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAC GCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAG AGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG GTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1070132	C C	CCCCAGTG others(423): Show CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCC CCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCC CCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGA GCCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0025 a0001c0009t0005g0025	1	118	0.0085	430	c.224 others(449): Show c.2241+3500_2241+3501insCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTC ACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGCTG CATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGT GATGCCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAG TGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGC CCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCAC TGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(423): Show AAGCCTGTCCCACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACC GAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGC CTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGC CGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCT GTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCAC CGAGCCCATCCCCGGGAGCAGCCTGCGGCCG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	405	0.0025	430	c.865 others(445): Show c.865-534_865-533insTCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCC ACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGC CCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAG CCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCC CACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC38A10_chr17_81239811_81300307	81249360	G G	GGAGAAGG others(423): Show GGAGAAGGAGGGAGGGAGAAGGAAGGAGGGAAGAGGAGGGAGAAGGAGGG AGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAG GGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGAGG GAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGA GAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGGAGGGAGGGAA GAGGAGGGAGAAAGAGGGAGGGAAGAGGAGGGAAAAGGAGGGAGGGAAGA GGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGG AGGGAGAAGGAGGGAGGGAAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02622.hp2 HG02630.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0005 a0010c0013t0005	a0010c0013t0005g0002 a0010c0013t0005g0002	2	214	0.0094	430	c.206 others(449): Show c.2065+2132_2065+2133insTCTCCCTCCTCTTCCCTCCCTCCTTC TCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTC CCTCCTCTTCCCTCCCTCCTTTTCCCTCCTCTTCCCTCCCTCTTTCTCCC TCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCC TTCTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTC CCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCC TCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTC CTTCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCCTTCTCCCTCCCTCCT TCTC	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SLC38A10_chr17_81239811_81300307	81249456	G G	GAGGAGGG others(423): Show GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGA GGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGG AGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGA GGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGAGGGAAAAGGAGGGAGG GAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGA AGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAG AGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAG GAGGGAGAAGGAGGGAGGGAGAAGGAAGGAGGGAAGAGGGAGAAGAGAGG AGGGAGAAAGAGGGAGGCGAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0001 a0023c0041t0001	a0023c0041t0001g0021 a0023c0041t0001g0021	1	214	0.0047	430	c.206 others(449): Show c.2065+2036_2065+2037insTCTCCCTCCTCTCGCCTCCCTCTTTC TCCCTCCTCTCTTCTCCCTCTTCCCTCCTTCCTTCTCCCTCCCTCCTTCT CCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCC CTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCT CCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCC TCTTCCCTCCCTCCTTTTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTC TTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCCCTCCTTC TCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTC CCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCC TCCT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SLC44A5_chr1_75197129_75616114	75280343	A A	AATCTATA others(423): Show AATCTATATATTGTATATATTATATATTGTATATATAATCTATATATTGT ATATATTATATATTGTATATATAATCTATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATAGTATATATTA TATATTGTATATATAATATATATATAGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATAGTATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp1 HG02615.hp2 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0007 a0001c0005t0005 a0001c0005t0007	a0001c0005t0005g0081 a0001c0005t0007g0090 a0001c0005t0005g0081 a0001c0005t0007g0090	2	156	0.0128	430	c.176 others(447): Show c.176-5302_176-5301insAATATATACTATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACTATATATATATTATATATACAAT ATATAATATATACTATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATAGATTATATATACAATATATAATA TATACAATATATAGATTATATATACAATATATAATATATACAATATATAG AT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLX9_chr21_44935029_44981973	44973521	A A	AGTGCCCT others(423): Show AGTGCCCTCACCCCGCCCACCCTCTCCAGGGATTCAGCTCCTGAGTGCCC TCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCC GCCCACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACC CTCTCCAGGGGTTCAGCTCCTATGTGCCCTCACCCCGCCCACCCTCTCCA GGGGTTCAGCTCCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTC AGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCT GAGTGCCCTCACCCCGCCCACCCTCTCCAGGGATTCAGCTCCTGAGTGCC CTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCC CGCCCACCCTCTCCAGGGGTTCAGCTCCTAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0222 a0004c0004t0001g0222	1	334	0.0030	430	c.569 others(445): Show c.569+286_569+287insATTCAGCTCCTGAGTGCCCTCACCCCGCCC ACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCT CCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTCTCCAGGGG TTCAGCTCCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCT CCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGT GCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCA CCCCGCCCACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCC CACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCTC TCCAGGGGTTCAGCTCCTATGTGCCCTCACCCCGCCCACCCTCTCCAGGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMYD3_chr1_245744347_246512279	246325242	G G	GGGGGGGC others(423): Show GGGGGGGCGGGAAGGAGGGAGGGGGGGGCGGGGGGCCGGGAAGGAGGGAG AAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGGGAGAAGGAGTC GGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGGGAG AAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAA GGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGG GCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGT CGGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0120 a0002c0007t0001g0120	1	150	0.0067	430	c.531 others(447): Show c.531+1958_531+1959insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTC CTTCTCCCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCC CCCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTT CCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCC CTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTC CTTCTCCCTCCTTCCCGGCCCCCCGCCCCCCCCTCCCTCCTTCCCGCCCC CC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325242	G G	GGGGGGGG others(423): Show GGGGGGGGCGGGAAGGAGGGAGGGGGGGGCGGGGGGCCGGGAAGGAGGGA GAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAA GGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGGGAGAAGGAGT CGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAG AAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAA GGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGG GCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGT CGGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0123 a0002c0007t0001g0123	1	150	0.0067	430	c.531 others(447): Show c.531+1958_531+1959insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTC CTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCC TTCTCCCTCCTTCCCGGCCCCCCGCCCCCCCCTCCCTCCTTCCCGCCCCC CC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1221465	G G	GTCTCTCT others(423): Show GTCTCTCTCTGTCTCTCTCTGTCTCTTTGTCCCTCTCTGTCTCTCTCTGT CTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCT CTGTCTGTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGC CCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGT CTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCT CTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCT CTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCT GCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCT GTCTCTGCCTCTGTCTCTGTCTCTCTCCGTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	190	0.0053	430	c.719 others(449): Show c.719+12242_719+12243insCTGTCTCTCTCTGTCTCTTTGTCCCT CTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCT CTGTCTCTCCCTGTCTCTGTCTGTCACTGTCTCTGCCTCTGTCTCTGCCT CTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCT CTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCT CTGCCTCTGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGT CTCTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGT CTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCT CTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCT CTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827442	A A	ATTATAGT others(423): Show ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACATATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTCATATAATATATAAACATATATTAT AGTTCATATAATATATAAACATATATTATAGTTCATATAATATATAAACA TATATTATAGTTCATATAATATATAAACATATATTATAGTTCATATAATA TATAAACATATATTATAGTTCATATAATATATAAACATATATTATAGTTC ATATAATATATAAACATATATTATAGTTCATATAATATATAAACATATAT TATAGTTCATATAATATATAAACATATATTATAGTTCATATAATATATAA ACATATATTATAGTTCATATAATATATAAAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	302	0.0033	430	c.12+ others(445): Show c.12+4017_12+4018insCACATATATTATAGTTTATATAATATATAC ATATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTCATATAATATATAAACATATATTATAG TTCATATAATATATAAACATATATTATAGTTCATATAATATATAAACATA TATTATAGTTCATATAATATATAAACATATATTATAGTTCATATAATATA TAAACATATATTATAGTTCATATAATATATAAACATATATTATAGTTCAT ATAATATATAAACATATATTATAGTTCATATAATATATAAACATATATTA TAGTTCATATAATATATAAACATATATTATAGTTCATATAATATATAAAC ATATATTATAGTTCATATAATATATAAACTTATAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827515	A A	ATATATTA others(423): Show ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTATAGTTTATATATAATATATAAATATATATTATAGTATAG TTTATATATAATATATAAATATATATTATAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0287 a0001c0001t0020g0287	1	302	0.0033	430	c.12+ others(445): Show c.12+4073_12+4074insTTATAGTTTATATAATATATAAATATATAT TATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAA ATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATA ATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTATAGTTTATATATAATATATAAATA TATATTATAGTATAGTTTATATATAATATATAAATATATATTATAGTATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(423): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTA TATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATT ATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAA TATATATTATAGTTTATATAATATATAAATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01346.hp1 HG01928.hp1 others(1): Show HG00733.hp2 HG01346.hp1 HG01928.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0026 others(1): Show a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0008g0024	4	302	0.0133	430	c.12+ others(445): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTA TAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA	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(423): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATATTATATATCATTATATAA CATATAATGATATATAATATATCATTATATAACATATAATGATATATATA TCATTATATAACATATAATGATATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0005 a0001c0041t0005	a0001c0041t0005g0161 a0001c0041t0005g0161	1	356	0.0028	430	c.-11 others(451): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATATTATATATCATTATATAACATATAATGATATATAATATATCATTAT ATAACATATAATGATATATATATCATTATATAACATATAATGATATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(423): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGTGGGAGGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGA ACGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGG GAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGG GAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGG GAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGA TGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 NA19240.hp1 HG02723.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0186 a0001c0001t0011g0187 a0001c0001t0011g0186 a0001c0001t0011g0187	2	251	0.0080	430	c.34 others(439): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCT CCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89852455	A A	ACCAGATC others(423): Show ACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCC TGGCCCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCT TCCATCCTCCCCCCACCCCCCGGATCCCACGGCCCATCTTCCATCCTCCC CCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCA GATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGC CCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCAT CCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCAC CCCCCAGATCCCCTGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCC CATGGCCCATCTTCCATCCTCCCCCCACCCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	356	0.0028	430	c.646 others(447): Show c.646-1783_646-1782insCTGGCCCATCTTCCATCCTCCCTCTCAC CCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCC CACGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATC TTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCT CCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCC AGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGG CCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCA TCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCA CCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATC CC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(423): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGGAGAGAGAGGGG GAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGG GGGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGGAGA GAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGGGGGGGGAGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	276	0.0036	430	c.-18 others(449): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCTCCCCCCCCT CTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCT CCCCCCTCCCTCCCCCTCTCTCTCCCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCT CTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTC TCCCCCCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCC CCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCC CCCTCCCCCTCTCTCTCCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTC CCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(423): Show AGAGGGAGGGGGGGAGGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGG GAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGG GGGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGAGGGGGAGGGAGG GGGAGAGAGAGGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GAGGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GGAGAGAGGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0037 a0001c0001t0114g0037	1	276	0.0036	430	c.-18 others(449): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCTCCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCT CCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCC CCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCCTCTCT CTCCCCCTCCCTCCCCCTCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCT CTCCCCCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCC CCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCC CCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCCTCCCCCCCTC CCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(423): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCGAGAGGAAACACCAAACCCACAACCCACCGGAGAGGAGACA CCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACCTATA CCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAGACAC CAAACCCATACCCCACCAGAGACGAGACACCAAAACCCACACAACCGACA CCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAACACCA AACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGAGAGG AAACACCAAACCCACACCCTACCAGAGAGGAGACACCAAAACCCACATCC ACCTGAGAGGAGACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0270 a0001c0015t0001g0270	1	314	0.0032	430	c.309 others(449): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGG GTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGG GTTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGG TGGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGT TTTGGTGTCTCCTCTCCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCGGGT GTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTCCTCT GGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46772268	T T	TACACATA others(423): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACACACATATATA TGTATACACACACATATATATGTATACACACACATATATATGTATACACA CACATATATATGTATACACACATACATATATATGTATACACACATACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0082 a0001c0001t0007g0082	1	112	0.0089	430	c.62+ others(445): Show c.62+9421_62+9422insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACACACATATATATGTATACACACACATATATATGTATACACACA CATATATATGTATACACACACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128216	C C	CCATCCTC others(423): Show CCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCT ACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCACCCCC CCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCTTCCCT CCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCC ACCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCACCCCACCCA TCCCCCCTTCCCTCACCCATCCCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	112	0.0089	430	c.142 others(451): Show c.1425+16614_1425+16615insATCCTCCCTCCACCCCACCCATCC TCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACC CCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCCCCCCACCCATC CCTCCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCC CTCACCCATCCCTCCATCTTCCCTCCACCCCACCCATTCTCCCCTCCACC CCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCTCCTCCGCCCCA CCCACCACCCCTCCACCCCACCCATCCCCCCTTCCCTCACCCATCCCTCC CTCCGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
THNSL2_chr2_88165346_88191627	88181113	T T	TCTCTCTC others(423): Show TCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTC CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCCTCTCTCTCCTCTCTCTCTCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	54	0.0185	430	c.803 others(447): Show c.803-1579_803-1578insCTCTCTCTCCTCTCTCTCCTCTCTCTCT CCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCCTCTCT CTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTC TCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTC TCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTC TC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
THOP1_chr19_2780503_2820807	2811894	C C	CCTGAATG others(423): Show CCTGAATGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAAC GGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAATGGCAAGG TACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGG GGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACTGG GGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACCGGGGACAGG GAGGGCGTCCTGAATGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCG TCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAA CGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAG GTACGCGGGGACCGGGGACAGGGAGGGTGTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	370	0.0027	430	c.190 others(447): Show c.1908+162_1908+163insGAATGGCAAGGTACGCGGGGACCGGGGA CAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACTGGGGACAGGGAG GGCGTCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCC TGAACGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGG CAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTA CGCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGG ACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACTGGGG ACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACCGGGGACAGGGA GGGCGTCCTGAATGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGTGTT CT	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121748043	A A	ACTGGGGT others(423): Show ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	314	0.0032	430	c.189 others(445): Show c.189-250_189-249insCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCACTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM44_chr3_194582678_194638419	194630145	C C	CGTACTGC others(423): Show CGTACTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGG GCCCCTGAAATAGTATGCTGTCGTACCTGCCTCCAGAAGGGGCTGGCTGT TTCCATCGGCGTCACTGATAGGGCCCCTGAAATAATACGCTGTCGTACTG CCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCCCCTG AAATAGTATGCTGTCGTACCTGCCTCCAGAAGGGGCTGGCTGTTTCCATC GGCGTCACTGATAGGGTCCCTGAAATAATACGCTGTCGTACCTGCCTCCA GAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGTCCCTGAAATAA TACGCTGTCGTACCTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTC ACTGATAGGGCCCCTGAAATAATACGCTGTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0170 a0002c0006t0002g0171 a0002c0006t0002g0170 a0002c0006t0002g0171	2	404	0.0050	430	c.138 others(447): Show c.138-1637_138-1636insAACAGCGTATTATTTCAGGGGCCCTATC AGTGACGCCGATGGAAACAGCCAGCCCCTTCGGGAGGCAGGTACGACAGC GTATTATTTCAGGGACCCTATCAGTGACGCCGATGGAAACAGCCAGCCCC TTCTGGAGGCAGGTACGACAGCGTATTATTTCAGGGACCCTATCAGTGAC GCCGATGGAAACAGCCAGCCCCTTCTGGAGGCAGGTACGACAGCATACTA TTTCAGGGGCCCTATCAGTGACGCCGATGGAAACAGCCAGCCCCTTCGGG AGGCAGTACGACAGCGTATTATTTCAGGGGCCCTATCAGTGACGCCGATG GAAACAGCCAGCCCCTTCTGGAGGCAGGTACGACAGCATACTATTTCAGG GGCCCTATCAGTGACGCCGATGGAAACAGCCAGCCCCTTCGGGAGGCAGT AC	TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	1/9			chr3	TogoVar
TP53AIP1_chr11_128930370_128947871	128930701	T T	TAGGGAGG others(423): Show TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGG GAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAG GGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGAC CAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTT AGGAAGGCCGGGGTTAGGGAGACCAAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	466	0.0022	430	c.48 others(441): Show c.4889_*4890insGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAAC CCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCT GACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4668		chr11	TogoVar
TPSD1_chr16_1251069_1264008	1258684	C C	CCCCCTCC others(423): Show CCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCACTGCTCCAT CCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGCCCCTC ATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGGC CCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTT CTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTC CTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAGC CCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTC TTGAGTCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCCCCCTCC CCCACCCTGAGCCCCTTCCCCTTTCTTGAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0001 a0001c0001t0063g0001	1	270	0.0037	430	c.31 others(439): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC ACTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCC TTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTG AGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258684	C C	CCCCCTCC others(423): Show CCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCACTGCTCCAT CCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGCCCCTC ATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGGC CCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTT CTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTC CTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAGC CCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCTCCCCTTTC TTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCCCCCTCC CCCACCCTGAGCCCCTTCCCCTTTCTTGAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0040 a0013c0015t0040	a0013c0015t0040g0018 a0013c0015t0040g0018	1	270	0.0037	430	c.31 others(439): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC ACTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCC CTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTG AGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(423): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGA GGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAG GAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGG GAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGG AAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAGGAAGG AAGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGG GAGAAAAGAAGAGCGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	268	0.0037	430	c.30+ others(447): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGG AGGGAGGGAGGGAGGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGG AGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAA GGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAG GGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGAAGGAA GGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAG GAAGGAAGGGAGGGAGAAAAGAAGAGCGAGGGAGGGAGGGAGGGAGGAAG GA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(423): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGA GGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAG GAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGG GAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGG AAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAGGAAGG AAGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGG GAGAAAAGAAGAGCGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp1 HG03239.hp1 others(1): Show HG02572.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0249 a0001c0001t0006g0123 a0001c0001t0007g0122 others(1): Show a0001c0001t0001g0249 a0001c0001t0006g0123 a0001c0001t0007g0122 a0001c0002t0002g0212	4	268	0.0149	430	c.30+ others(447): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGG AGGGAGGGAGGGAGGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGG AGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAA GGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAG GGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGAAGGAA GGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAG GAAGGAAGGGAGGGAGAAAAGAAGAGCGAGGGAGGGAGGGAGGGAGGAAG GA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(423): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATAATATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	272	0.0037	430	c.29 others(441): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATAATATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188152729	G G	GGAGTGAG others(423): Show GGAGTGAGAGGGGGTGAGAGGGAGTGTGGGGGTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGAGTGAGTGGGTGAGGGGTGTGAGTGGGGATGAAGG GGAGTGAGAGTGGGGGTGTGAAGGGGTGAGTGTGGGGGTGTGAAGGGGAG TGAGAGTGGGGGTGAGGGAGTGAGAGAGGGGTTGGGAGTGTGAGGGGGTG AGAGGGGAGTGAGAGTGGGGTGAGAGGGAGTGAGTGGGGGTGATGGGAGT GAGAGTGTGTGAGGGAGTGTGGGTGTGAGGAGTGAGGTGGGGGTGAGAGG GGGTGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGGGAGTGAGTGTGGGGGTGAGAGGGGG AGTGGGGGTGAGTGGTGGTGTGGGGGGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	228	0.0044	430	c.53 others(441): Show c.5357_*5358insGAGTGAGAGGGGGTGAGAGGGAGTGTGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGTGGGTGAGGGGTGT GAGTGGGGATGAAGGGGAGTGAGAGTGGGGGTGTGAAGGGGTGAGTGTGG GGGTGTGAAGGGGAGTGAGAGTGGGGGTGAGGGAGTGAGAGAGGGGTTGG GAGTGTGAGGGGGTGAGAGGGGAGTGAGAGTGGGGTGAGAGGGAGTGAGT GGGGGTGATGGGAGTGAGAGTGTGTGAGGGAGTGTGGGTGTGAGGAGTGA GGTGGGGGTGAGAGGGGGTGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGGGAGTGAGTGT GGGGGTGAGAGGGGGAGTGGGGGTGAGTGGTGGTGTGGGGGGTGTT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4987		chr4	TogoVar
TRPC4AP_chr20_34997404_35097807	35097570	T T	TGTGTATA others(423): Show TGTGTATATACACATATACATATACACACGTGCGTGTATATACATATACA CGCGTGCGTGTATATACATATACACGCGTGCGTATATACATATACACGCG TGCGTATATACATATACACGCGTGCGTATATACATATACACGCGTGCGTA TATACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATATA CATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATA TACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATA CACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	334	0.0030	430	c.-47 others(441): Show c.-4790_-4789insGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGT ATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTAT ATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATAC GCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACGC GTGTATATGTATATACGCACGCGTGTATATGTATATACACGCACGCGTGT ATATGTATATACACGCACGTGTGTATATGTATATGTGTATATACAC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4764		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097570	T T	TGTGTATA others(423): Show TGTGTATATACATATATACATATACACACGTGCGTGTATATACATATACA CACGTGCGTGTATATACATATACACGCGTGCGTATATACATATACACGCG TGCGTATATACATATACACGCGTGCGTATATACATATACACGCGTGCGTA TATACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATATA CATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATA TACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATA CACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	334	0.0030	430	c.-47 others(441): Show c.-4790_-4789insGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGT ATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTAT ATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATAC GCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACGC GTGTATATGTATATACGCACGCGTGTATATGTATATACACGCACGTGTGT ATATGTATATACACGCACGTGTGTATATGTATATATGTATATACAC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4764		chr20	TogoVar
TTLL8_chr22_50013575_50063298	50028864	C C	CCCCATCA others(423): Show CCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAG ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCA CACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCC TCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAA GACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCA TCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACC GTCCTGAAGACCCCACACACCCTCGTAAAGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	224	0.0045	430	c.225 others(449): Show c.2251+1565_2251+1566insTCTTTACGAGGGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGG TGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGT GTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCT TCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGAT GGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGA TGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBA8_chr22_18105809_18136732	18106374	C C	CGTGGTTC others(423): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGT TTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCA GTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGT CTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACATAGTTCCAGTCGGA GTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAAT CTGAAGCCCGAGACCCAGGAGAGCTGATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19080.hp2 NA19081.hp2 NA19057.hp1 NA19080.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0168 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0168	3	426	0.0070	430	c.-44 others(441): Show c.-4492_-4491insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAG AGCTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCT GAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAA GGACATGGTTCCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATG GTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATAC ATAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACAT GGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4434		chr22	TogoVar
TUBA8_chr22_18105809_18136732	18106374	C C	CGTGGTTC others(423): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGT TTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCA GTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGT CTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGA GTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAAT CTGAAGCCCGAGACCCAGGAGAGCTGATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(137): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02886.hp2 HG03239.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0005 a0003c0007 a0004c0008 a0006c0013 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0011t0003 a0002c0005t0001 a0003c0007t0001 a0004c0008t0001 a0006c0013t0001 a0007c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0279 a0001c0001t0001g0294 a0001c0001t0001g0316 a0001c0001t0002g0306 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0015 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0087 a0001c0002t0001g0125 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0318 a0001c0003t0001g0010 a0001c0003t0001g0012 a0001c0003t0001g0079 a0001c0003t0001g0092 a0001c0003t0001g0115 a0001c0011t0003g0315 a0002c0005t0001g0006 a0002c0005t0001g0007 a0002c0005t0001g0019 a0002c0005t0001g0080 a0003c0007t0001g0015 a0004c0008t0001g0143 a0006c0013t0001g0155 a0007c0014t0001g0081	140	426	0.3286	430	c.-44 others(441): Show c.-4492_-4491insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAG AGCTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCT GAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAA GGACATGGTTCCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATG GTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATAC GTAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACAT GGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4434		chr22	TogoVar
TUBA8_chr22_18105809_18136732	18106374	C C	CGTGGTTC others(423): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGT TTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCA GTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGT CTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGA GTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAAT CTGAAGCCCGAGACCCAGGAGAGCTGATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0164 a0001c0009t0001g0164	1	426	0.0024	430	c.-44 others(441): Show c.-4492_-4491insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAG AGCTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCT GAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAA GGACATGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGATG GTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATAC GTAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACAT GGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		4434		chr22	TogoVar
TUBB2B_chr6_3219277_3232653	3222092	C C	CCATCACC others(423): Show CCATCACCACCACCACTACCACTACCACCAACACAATCACCACCACGATC ACCATCATCACCACCACCACCACTACCACTACCACCATCATAATTACCAC CACCATCACCACCACCACCACCACTATCACCATCATCACCACCACCACCA CCACCACTAGCACAACCACAACACTACCACATCACCACCACCACTACCAC TACTACCATCACCATCACCACCACCATCACCACCACCACCACAATACTAC CACATCACCACCACCATCACCACATCACCACCACCATCACCATCACCACC ACTACCACCACCACCACCACTACCACCATCGCCACCACCACCATCACCAC CACCACCACCACCACCACACTACCACCACCACCATCACCATCATCATCAC CACCACCACGACCACCACAACACTACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02300.hp1 HG02004.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	360	0.0056	430	c.26 others(441): Show c.2658_*2659insATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTG ATGATGATGGTGATGGTGGTGGTGGTAGTGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGCGATGGTGGTAGTGGTGGTGGTGGTGGTAGTGGT GGTGATGGTGATGGTGGTGGTGATGTGGTGATGGTGGTGGTGATGTGGTA GTATTGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTAGTAGTG GTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGGTGGTGG TGGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGATGGTGGTG GTAATTATGATGGTGGTAGTGGTAGTGGTGGTGGTGGTGATGATGGTGAT CGTGGTGGTGATTGTGTTGGTGGTAGTGGTAGTGGTGGTGGTGATG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2184		chr6	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(423): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATTATATATTATTATATATAATATAATATATA TTATTATATATTATTATATATAATATAATATATATTATTATATATTATTA TATATAATAATATATAATATATATTATTATATATTATTATATATAATAAT ATATAATATATATTATTATATATTATTATATATAATAATATAATATATAT TATTATATATAATAATATAATATATATTATTATATATTATTATATATAAT ATAATATATATTATTATATATTATTATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04204.hp1 HG01099.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0080 a0001c0002t0001g0081	2	238	0.0084	430	c.392 others(447): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATATTATTATATATAATAATATATAATAATATATATTATATATTATTAT ATATAATAATATATAATAATATATATTATATTATATATAATAATATATAA TAATATATATTATATTATATATAATAATATATAATAATATATATTATATT ATATATAATAATATATAATAATATATATTATATTATATATAATAATATAT AATAATATATATTATATTATATATAATAATATATAATAATATATATTATA TTATTATATATAATAATATATAATAATATATATTATATTATTATATATAA TA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(423): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTGTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCTCC TTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTATTCCTTCCCCTCCCT TTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCCCT TTCCCCTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp1 others(10): Show HG00438.hp1 HG00438.hp2 HG00597.hp1 HG01123.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02257.hp2 HG02922.hp1 HG03130.hp2 HG03688.hp2 NA18522.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0003t0003 a0001c0003t0012 a0001c0009t0001	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0028 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0002g0018 a0001c0001t0002g0057 a0001c0001t0019g0011 a0001c0003t0003g0009 a0001c0003t0012g0058 a0001c0009t0001g0036	13	64	0.2031	430	c.104 others(449): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTGTCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTA TTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCA TTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCCCTCC TCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
USP37_chr2_218445251_218573351	218557668	G G	GCTGTAAT others(423): Show GCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCA AGAGATCGAGACCATCCTGGCTAACACGGTGAACCCCATCTCTACTAAAA ATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTAC TCGAGAGGCTGAGGCAGGAGGATGGTATGAACCCAGGAGGCAGGGTTTGC AGTAAGCCGAGATCACACCACCGCACTCCAGCCTGGGCAACAGAGCGAGA CTCCGTCTCAAAAAACAAAACAAAAAGCAAAAAAACCCCATATATATATA TATATGATCTTAAAGTGCAGAAAAACATAAAACATTATGTTCTTAACTTC AACTCATATCAAGATGAGTAACTTGGTTGCATAAGAGAAGCAATAAAGAA GTGAAAACAGGCTGGGCGCAGTGGCTCACAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	282	0.0036	430	c.156 others(445): Show c.156+829_156+830insGTGTGAGCCACTGCGCCCAGCCTGTTTTCA CTTCTTTATTGCTTCTCTTATGCAACCAAGTTACTCATCTTGATATGAGT TGAAGTTAAGAACATAATGTTTTATGTTTTTCTGCACTTTAAGATCATAT ATATATATATATGGGGTTTTTTTGCTTTTTGTTTTGTTTTTTGAGACGGA GTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTTAC TGCAAACCCTGCCTCCTGGGTTCATACCATCCTCCTGCCTCAGCCTCTCG AGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTGTA TTTTTAGTAGAGATGGGGTTCACCGTGTTAGCCAGGATGGTCTCGATCTC TTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAG	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
UVSSA_chr4_1342208_1393049	1372767	T T	TCCCTGCA others(423): Show TCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTG CACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTTACC TCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGC GTCCCTGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGC ACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCAT CTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCG TCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAG CACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCA CCTCCCGCGTCCCTGCACTCATCTCCTGCTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0064 a0001c0003t0004g0064	1	400	0.0025	430	c.128 others(449): Show c.1289-2596_1289-2595insCCTGCACTCACCTCCCGCGTCTCAGG GCACTCACCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAGCACTCAC CTCCCGCGTCCCTGCACTTACCTCCCGCGTCCCTGCACTCACCTCCCGCG TCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAG CACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCA CCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGC GTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCT GCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTCAC CTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCTCCTG CTAC	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar

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