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
PCGF3_chr4_700832_775089	759715	T T	TTCCGGAC others(364): Show TTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGCTCTTC TCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTC TTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG TTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCC GAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCT CCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCC TCTCCCGAGCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGC CCCTCTCCCGAGTTCTTCTCCC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0127 a0001c0003t0010g0127	1	366	0.0027	371	c.463 others(388): Show c.463-1555_463-1554insCGGGTCTTTCTCCCCGCGCGGCCCCTCT CCCGAGCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCC TCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGC CCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGC GGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCT CGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCC CCTCGCGGCCCCTCTCCCGAGCTCTTCTCGCTCCGGACTCCGGGTCTTTC TCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCCTCCGGACTC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDCD6_chr5_266646_319974	318063	T T	TGCACCTC others(364): Show TGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGC ACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCC CTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCT CCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACC CTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCC CTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCA CCTCCCCCCTCCACCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	360	0.0028	371	c.35 others(382): Show c.3548_*3549insGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCA CTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCA CCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCC ACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCA TCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCT CCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACC TCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3090		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(364): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCTCACCC TGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCT GCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCC CCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	360	0.0028	371	c.35 others(382): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCC TCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCC ACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(364): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT ACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCC CGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACC TCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCAC CTTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA18522.hp1 NA19043.hp1 HG03471.hp2 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0270 a0001c0001t0005g0019 a0001c0001t0005g0270	3	360	0.0083	371	c.35 others(382): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCA CCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTC CCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCA CCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCC CTCACCTCCCCCCACCTTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(364): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGGTGTG GGGATGCACTGAGTCTGGGGGGGGGGGGTGTGGGGATGCACTGAGTCTGG GGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGCGTGG GGATGCACTGAGTCGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTG GGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGCGTG GGGATGCACTGAGTCGGGGGGAGGGGGGTGTGGGGATGCACTGAGTCTGG GGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTG TGGGGATGCACTGAGTCTGGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0103 a0103	a0103c0051 a0103c0051	a0103c0051t0002 a0103c0051t0002	a0103c0051t0002g0047 a0103c0051t0002g0047	1	282	0.0036	371	c.299 others(386): Show c.2992-13_2992-12insCCCCAGACTCAGTGCATCCCCACACCCCGC CCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCCAGACTC AGTGCATCCCCACACCCCCCTCCCCCCGACTCAGTGCATCCCCACGCCCC CCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCAGACTCA GTGCATCCCCACACCCCGCCCTCCCCCCGACTCAGTGCATCCCCACGCCC CCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCAGACTC AGTGCATCCCCACACCCCCCCCCCCCAGACTCAGTGCATCCCCACACCCC CCCCTCCCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(364): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC CCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACACCCCGGCCCCGCTCACCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	216	0.0046	371	c.173 others(388): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCC GCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCA CCCCCGGCCCGCTCACACCCGCCCCGCTCACACCCCGGCCCCGCTCACCC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG4B_chr5_87168_194966	100372	T T	TAATCCAT others(364): Show TAATCCATATAAAGCCCTGGAAAAAGTCTGTAAGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCTCTGGAGAAAGTCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTA GGGGAGAGACTGTTGTGAGGTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0045 a0008c0025t0045	a0008c0025t0045g0172 a0008c0025t0045g0172	1	210	0.0048	371	c.45+ others(386): Show c.45+8121_45+8122insTCTGTAAGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCTCTGGAGAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100822	T T	TCTGTAGG others(364): Show TCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG GAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATC CATATAAAGCCCTGGAAAAAGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0072 a0006c0072	a0006c0072t0054 a0006c0072t0054	a0006c0072t0054g0207 a0006c0072t0054g0207	1	210	0.0048	371	c.45+ others(386): Show c.45+8572_45+8573insTAATCCATATAAAGCCCTGGAAAAAGCCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGGAAAAGC CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAA AGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGA AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCT GGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGC TCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100849	A A	AAATCCAT others(364): Show AAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGGAAAAGTCTGTAGGG GAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTA GGGGAGAGACTGTTGTGAGGTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0096 a0001c0051t0096	a0001c0051t0096g0063 a0001c0051t0096g0063	1	210	0.0048	371	c.45+ others(386): Show c.45+8598_45+8599insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGGAAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101076	C C	CCTGGAAA others(364): Show CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATA TAAAGCCCTGGAAAAAGCCTGTAGGGGAAAGACTGTTGTGAGGTTAATCC ATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG04204.hp1 HG00323.hp2 HG04204.hp1	a0014 a0039 a0014 a0039	a0014c0018 a0039c0064 a0014c0018 a0039c0064	a0014c0018t0010 a0039c0064t0010 a0014c0018t0010 a0039c0064t0010	a0014c0018t0010g0164 a0039c0064t0010g0165 a0014c0018t0010g0164 a0039c0064t0010g0165	2	210	0.0095	371	c.45+ others(386): Show c.45+8810_45+8811insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAAAGACTGTTGTGA GGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	102028	C C	CCTGGAAA others(364): Show CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATA TAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCC ATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAA TCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTAAATCCATATAAAGCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0008 a0008	a0008c0081 a0008c0081	a0008c0081t0068 a0008c0081t0068	a0008c0081t0068g0173 a0008c0081t0068g0173	1	210	0.0048	371	c.45+ others(386): Show c.45+9762_45+9763insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGT AAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(364): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCGGGACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC CTGAGCCACCGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19004.hp1 NA18999.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0146 a0001c0001t0001g0147	2	294	0.0068	371	c.550 others(388): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(364): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGG GAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGG GGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCG GCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGC GGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGG GGGGAGGGGAGGAGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02717.hp1 others(6): Show HG02451.hp1 HG02647.hp1 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp1 HG03098.hp1 HG03471.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0001c0001t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0049 a0001c0001t0001g0206 a0002c0002t0001g0201 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0206 a0002c0002t0001g0201 a0002c0003t0001g0051 a0002c0003t0001g0207 a0002c0003t0001g0208 a0002c0003t0001g0209	9	354	0.0254	371	c.-27 others(380): Show c.-277_-276insTCCCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCC GCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCC CCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCG CCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCC TCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCT GCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCC CGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCG CCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(364): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGAGG GGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	354	0.0028	371	c.-27 others(380): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCTCCTCCCC TCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCGCCCCTAACCCTC CCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCC GCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTC CTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGCCGC TGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCC CCGCCCCTCCCCTCCTCCCCCTCCCCTGCTGCCCTCCCCTCCCCGCCCCG CCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PNMA5_chrX_152983824_152999116	152998757	A A	ATATATTT others(364): Show ATATATTTATATAAAAATATATAATATATATTTATATAAAAATATATTAT ATATAATATAATTATTATATATAAAAATATATTTATATATATTATATTAT ATATAATATATTATATATATTATATTATATATAATATATTATATATATTA TATTATATATAATATATTATATATATTATATTATATATAATATATTATAT ATATTATATTATATATAATATATTATATATATTATATTATATATAATATA TTATATATATTATATTATATATAATATATTATATATATTATATTATATAT AATATATTATATATATTATATTATATATAATATATTATATATATTATATT ATATATAATATATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	286	0.0035	371	c.-50 others(382): Show c.-5055_-5054insATATATATAATATATTATATATAATATAATATAT ATAATATATTATATATAATATAATATATATAATATATTATATATAATATA ATATATATAATATATTATATATAATATAATATATATAATATATTATATAT AATATAATATATATAATATATTATATATAATATAATATATATAATATATT ATATATAATATAATATATATAATATATTATATATAATATAATATATATAA TATATTATATATAATATAATATATATAATATATTATATATAATATAATAT ATATAAATATATTTTTATATATAATAATTATATTATATATAATATATTTT TATATAAATATATATTATATATTTTTATATAAATATA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4642		chrX	TogoVar
PRKCA_chr17_66297613_66815743	66799183	G G	GGTGGTGG others(364): Show GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGTGGTGGTG ATGGTGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0085 a0001c0001t0022g0085	1	178	0.0056	371	c.185 others(390): Show c.1855-4675_1855-4674insGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTG TGGTGGTGATGGTGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGTGGTGGTGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(364): Show AACAGCATATCATATATATATATATATATATATATTTTTTTTTTTTTTTT TTAAAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGTGA TCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCC TCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCT GGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTG TTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTAT ATTCTGAATTTTCACATATTAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01099.hp1 others(6): Show HG00140.hp1 HG00735.hp2 HG01099.hp1 HG01123.hp2 HG01496.hp1 HG03688.hp1 HG03834.hp2 NA18522.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0005t0002 a0002c0004t0001	a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0062 others(6): Show a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0005g0031 a0001c0001t0005g0061 a0001c0001t0009g0039 a0001c0001t0012g0045 a0001c0005t0002g0037 a0002c0004t0001g0044	9	64	0.1406	371	c.479 others(390): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCACTCTGTCACCCAG GCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGG GTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTTGTATTATAGGC ACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAGTGATCCGCC CACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGCCACCGTGCCC AGCCAGCATATCATATTTATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(364): Show AACAGCATATCATATATATATATATATATATATTTTTTTTTTTTTTTTTT TTAAAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGTGA TCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCC TCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCT GGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTG TTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTAT ATTCTGAATTTTCACATATTAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02109.hp2 HG00140.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0002g0036 a0001c0001t0001g0047 a0001c0001t0002g0036	2	64	0.0313	371	c.479 others(390): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCACTCTGTCACCCAG GCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGG GTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTTGTATTATAGGC ACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAGTGATCCGCC CACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGCCACCGTGCCC AGCCAGCATATCATATTTATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PYM1_chr12_55896413_55932894	55905952	A A	ATATATAT others(364): Show ATATATATCTATTAGATATATATATTATTATATATATCTATTAGATATAT ATATTATTATATATATCTATTAGATATATATATTATTATATATATCTATT AGATATATATATTATTATATATATCTATTAGATATATATATTATTATATA TATCTAATAGATATATATATTATTATATATATCTAATAGATATATATAAT AATATATATCTATTAGATATATATATTATTATATATATCTATTAGATATA TATATTATTATATATATCTATTAGATATATATATTATTATATATATCTAT TAGATATATATATTATTATATATATCTATTAGATATATATATTATTATAT ATCTAATAGATATATATATTAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	344	0.0029	371	c.38- others(386): Show c.38-2473_38-2472insATAATATATATATCTATTAGATATATAATA ATATATATATCTAATAGATATATATAATAATATATATATCTAATAGATAT ATATAATAATATATATATCTAATAGATATATATAATAATATATATATCTA ATAGATATATATAATAATATATATATCTAATAGATATATATTATTATATA TATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAAT AATATATATATCTAATAGATATATATAATAATATATATATCTAATAGATA TATATAATAATATATATATCTAATAGATATATATAATAATATATATATCT AATAGATATATATAATAATATATATATCTAATAGATATATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(364): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCC CCCGCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCC CCGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTC CGGGAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0021 a0001c0003t0004g0021	1	204	0.0049	371	c.880 others(388): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGCGGAG others(364): Show GGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTG GAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGG GGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGAGG GTGGAGAGATGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGG GGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGA GATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGG GAGGGTGGAGAGATGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp1 HG02886.hp2 others(2): Show HG02109.hp1 HG02818.hp1 HG02886.hp2 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0018 a0001c0004t0001g0260 a0001c0004t0001g0264 others(2): Show a0001c0004t0001g0018 a0001c0004t0001g0260 a0001c0004t0001g0264 a0001c0004t0001g0265 a0001c0004t0001g0272	5	312	0.0160	371	c.188 others(390): Show c.1882-1434_1882-1433insGCGGAGGGGAGGGTGGAGAGATGGGG GTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTG GAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGG GGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAG ATGGGGGTGTGGGGAGGGGAGGGTGGAGAGATGGTGTGGGGGGAGGGGAG GGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTG TGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGT GGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(364): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAAATATATTTAA AGATATATATTAAATTATATATATTAAAATATGTATATTAATATATATTT AAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATAT ATATATTTTTAATATATATATTTTTAAATATATATATATTTATATATATA TTTTTATATATATATTTATATATATATTTTTATATATATATATTTATATA TATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0165 a0001c0002t0003g0165	1	408	0.0025	371	c.182 others(388): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAAATATATTTAAAGATATATATTAAATTATATATATTAAAA TATGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTA AAAATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAAT ATATATATATTTATATATATATTTTTATATATATATTTATATATATATTT TTATATATATATATTTATATATATATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(364): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATAATCTTTAAATATATATAAATATATATTTAAATATATATATTTAAAT ATATATTAATATATATATTTAAAGATTATATATTAAATTATATATATTAA AATATGTATATTAATATATATTTAAATTATATAATTTAAATATACATATT TAAAAATATATATATTTAAATATATATATTTTTAATATATATATTTTTAA ATATATATATTTATATATATATTTTTATATATATATATTTATATATATAT TTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0108 a0001c0003t0002g0108	1	408	0.0025	371	c.182 others(388): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATAATCTTTAAATATATATAAATATATATTTAAATATATATAT TTAAATATATATTAATATATATATTTAAAGATTATATATTAAATTATATA TATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATA CATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATAT TTTTAAATATATATATTTATATATATATTTTTATATATATATATTTATAT ATATATTTTTAAATATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RTN1_chr14_59590983_59875776	59750553	A A	ATATATCT others(364): Show ATATATCTATAATATATATATATCTATAATATATAATATATCTATAATAT ATAATATATCTATAATATATAATATATCTATAATATATAATATATCTATA ATATATATATTATAGATATAATATATAATATATATCTATAATATATAATA TATTATATATAATATATTATATCTATAATATATAATATATTATATATAAT ATATTATATATTATATCTATAATATATAATATATTATATCTATAATATAT TATATGTAATATATATGTTATATCTATAATATATATTATATCTATAATAT ATAATATATTATATCTATAAATATAATATATTATATCTATAATATATAAT ATATTATATCTATAATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18612.hp1 HG02080.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0144 a0001c0001t0001g0145	2	172	0.0116	371	c.242 others(388): Show c.242-4073_242-4072insATATATATTATAGATATAATATATTATA TATTATAGATATAATATATTATATTTATAGATATAATATATTATATATTA TAGATATAATATATATTATAGATATAACATATATATTACATATAATATAT TATAGATATAATATATTATATATTATAGATATAATATATAATATATTATA TATAATATATTATATATTATAGATATAATATATTATATATAATATATTAT ATATTATAGATATATATTATATATTATATCTATAATATATATATTATAGA TATATTATATATTATAGATATATTATATATTATAGATATATTATATATTA TAGATATATTATATATTATAGATATATATATATTATAGATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SART1_chr11_65956734_65985137	65971177	A A	AGCTGCTG others(364): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAG GAGGGGGATGGTGGGATTCATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0175 a0001c0002t0002g0175	1	384	0.0026	371	c.157 others(390): Show c.1572+3356_1572+3357insGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(364): Show TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGG GTTGGGTGAGGGGGTTGGGTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGG GGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0040 a0009c0013t0001g0040	1	290	0.0035	371	c.464 others(384): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGTTGGGT GAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTG AGGGGGGTGGGGGGTTGGGTGAGGGGGTTGGGTGAGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGT GAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289471	C C	CCGTGTCT others(364): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCGT GTCTCTCACTTTCTCTCCTATTATTGTCTCCCTCAATCTATTCCATTCTC TATACTTTTCTACCCTCGTATTCTCTCCGTGTCCTGCCCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCC GTCCCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0028 a0028	a0028c0028 a0028c0028	a0028c0028t0001 a0028c0028t0001	a0028c0028t0001g0256 a0028c0028t0001g0256	1	290	0.0035	371	c.166 others(388): Show c.1663-799_1663-798insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC GTGTCCCTGCCCCGTCCCGTGTCTCTCACTTTCTCTCCTATTATTGTCTC CCTCAATCTATTCCATTCTCTATACTTTTCTACCCTCGTATTCTCTCCGT GTCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHTN1_chr10_116876477_117010187	116987501	C C	CAAAAAAA others(364): Show CAAAAAAAGACAAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0086 a0001c0001t0055g0086	1	292	0.0034	371	c.59- others(386): Show c.59-8194_59-8193insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTCCTTGTCTTTTTTT	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	1/16			chr10	TogoVar
SLC12A6_chr15_34224784_34342781	34310174	A A	AGTGTGTG others(364): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCTGTGTCCAGGCTGGTG AACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCCGTATCCAGGCTGGTGTT GAACTCCTGGGCTCAAGTGTGTGTGTGTGTGTGTCCCCGTGTCCAGGCTG GTGTTGAACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCTGTGTCCAGGCT GGTGTTGAACTCCTGGGCTCGTGTGTGTGTGTGTGTGTGTGTGTGTCCCC ATGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTATGTATGTGTGTGTCCCCGTGGCCAGGCTGG TGTTGAACTCCTGGGCTCAAGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03130.hp1 HG02257.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0020 a0001c0001t0001g0021	2	274	0.0073	371	c.271 others(390): Show c.271+26235_271+26236insACTTGAGCCCAGGAGTTCAACACCAG CCTGGCCACGGGGACACACACATACATACACACACACACACACACACACA CACACACACACACTTGAGCCCAGGAGTTCAACACCAGCCTGGACATGGGG ACACACACACACACACACACACACACGAGCCCAGGAGTTCAACACCAGCC TGGACACAGGGACACACACACACACTTGAGCCCAGGAGTTCAACACCAGC CTGGACACGGGGACACACACACACACACACTTGAGCCCAGGAGTTCAACA CCAGCCTGGATACGGGGACACACACACACACTTGAGCCCAGGAGTTCACC AGCCTGGACACAGGGACACACACACACACACACACACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(364): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATATAAAATATATATATTATATAA TATATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATGTAATATT ATATATAATATATATATTATATATATTATATATTATATATATTATATATA TTATATATAATATATATTATATATTATATATATTATATATATTATATATA ATATATTATATATAATATATATAATATATATAATATATATATTATATATA ATATATATAATATATATAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01257.hp2 HG02040.hp2 others(7): Show HG01081.hp2 HG01257.hp2 HG02040.hp2 HG03491.hp2 HG04184.hp1 NA18946.hp2 NA18970.hp1 NA18980.hp2 NA18991.hp1 NA19007.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0014 a0001c0001 a0001c0002 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 a0001c0001t0060 a0001c0002t0002 a0004c0014t0002	a0001c0001t0001g0115 a0001c0001t0002g0081 a0001c0001t0002g0145 others(7): Show a0001c0001t0001g0115 a0001c0001t0002g0081 a0001c0001t0002g0145 a0001c0001t0005g0152 a0001c0001t0021g0090 a0001c0001t0060g0176 a0001c0002t0002g0079 a0001c0002t0002g0108 a0001c0002t0002g0134 a0004c0014t0002g0137	10	190	0.0526	371	c.151 others(390): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATATAAAATATATATATTATATAATA TATATATAAAATATATATATTATATAATATATATATAAAATATATATATT ATATAATATATATATAAAATATATATATTATATAATATATGTAATATTAT ATATAATATATATATTATATATATTATATATTATATATATTATATATATT ATATATAATATATATTATATATTATATATATTATATATATTATATATAAT ATATTATATATAATATATATAATATATATAATATATATATTATATATAAT ATATATAATATATATAAAAAATATATATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(364): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATATAAAATATATATATTATATAA TATATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATGTAATATT ATATATAATATATATATTATATATATTATATATTATGTATATTATATATA TTATATATAATATATATTATATATTATATATATTATATATATTATATATA ATATATTATATATAATATATATAATATATATAATATATATATTATATATA ATATATATAATATATATAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0140 a0001c0002t0026g0140	1	190	0.0053	371	c.151 others(390): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATATAAAATATATATATTATATAATA TATATATAAAATATATATATTATATAATATATATATAAAATATATATATT ATATAATATATATATAAAATATATATATTATATAATATATGTAATATTAT ATATAATATATATATTATATATATTATATATTATGTATATTATATATATT ATATATAATATATATTATATATTATATATATTATATATATTATATATAAT ATATTATATATAATATATATAATATATATAATATATATATTATATATAAT ATATATAATATATATAAAAAATATATATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143399	A A	ATAATATA others(364): Show ATAATATATGTAATATTATATATAATATATATAATATATATTATATATAA TATATATAATATATATATTATATAATATATATAAAAAATATATATTATAT ATAAAAAATATATATTATATAATATATATAAAATATATATATTATATAAT ATATATATAATATATATAAAATATATATATTATATAATATATATATAATA TATATAAAATATATATATTATATAATATATATATAATATATATAAAATAT ATATATTATATAATATATATATAATATATATATATAATATATATAATATA TATAAAATATATATATTATATAATATATATATAATATATATATATAATAT ATATAATATATATAAAATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0136 a0001c0004t0003g0136	1	190	0.0053	371	c.151 others(390): Show c.1513-3585_1513-3584insTAATATATGTAATATTATATATAATA TATATAATATATATTATATATAATATATATAATATATATATTATATAATA TATATAAAAAATATATATTATATATAAAAAATATATATTATATAATATAT ATAAAATATATATATTATATAATATATATATAATATATATAAAATATATA TATTATATAATATATATATAATATATATAAAATATATATATTATATAATA TATATATAATATATATAAAATATATATATTATATAATATATATATAATAT ATATATATAATATATATAATATATATAAAATATATATATTATATAATATA TATATAATATATATATATAATATATATAATATATATAAAATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SORCS2_chr4_7187538_7747827	7449237	C C	CCCTCCCT others(364): Show CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCGTACTTCCT CTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCCCTCCATCCCGCCCTCCCT CCCTTCCTCTTTTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0028 a0001c0002t0004g0028	1	168	0.0060	371	c.548 others(390): Show c.548+52901_548+52902insTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCGTACT TCCTCTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCCCTCCATCCCGCCCT CCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TAATGATA others(364): Show TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATCATTATATAA CATATAATGATATATAATATATATTATATAACATGATGATATATAATATA TATTATTATATAACATATGATG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0347 a0001c0001t0015g0347	1	356	0.0028	371	c.-11 others(392): Show c.-112+29223_-112+29224insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATCATTATATAACATATAATGATATATAATATATATTA TATAACATGATGATATATAATATATATTATTATATAACATATGATGA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(364): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATATAACATATAATGATATAT AATATATATCATATAACATATG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0141 a0001c0009t0001g0141	1	356	0.0028	371	c.-11 others(392): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATATAACATATAATGATATATAATATATATCATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190169	T T	TCATTATA others(364): Show TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATATATCATTATATAAC ATATAATGATATATAATATATATCATTATATAACATATAATGATATATAA TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01978.hp1 HG01433.hp2 HG01978.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0017 a0001c0001 a0008c0017	a0001c0001t0006 a0008c0017t0053 a0001c0001t0006 a0008c0017t0053	a0001c0001t0006g0248 a0008c0017t0053g0271 a0001c0001t0006g0248 a0008c0017t0053g0271	2	356	0.0056	371	c.-11 others(392): Show c.-112+29237_-112+29238insCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(364): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAAGGGGGAAGGGGAGGGGGAGGTG GGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAA GCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGA GGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGATATGGGGAGGG GGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0096 a0004c0005t0012g0096	1	251	0.0040	371	c.34 others(380): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATATCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCC CTTCCCCCTTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCC CCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(364): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAAGGGGGAAGGGGAGGGGGAGGTG GGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAA GCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGGGGAGGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAAGGGGGAG GGGGGAGGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGATATGGGGAGGG GGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0018 a0004c0005t0018	a0004c0005t0018g0191 a0004c0005t0018g0191	1	251	0.0040	371	c.34 others(380): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATATCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCCTCCCCCCTCCCCCTTCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCGCTTCCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCC CTTCCCCCTTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCC CCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(364): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGG GGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGGAGGGG GAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGA GGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	260	0.0039	371	c.138 others(390): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCC TCCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTC CCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(364): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGG GGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGG GAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGA GGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	260	0.0039	371	c.138 others(390): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCC TCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCC CTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167108995	T T	TATAAAAA others(364): Show TATAAAAATATATATAAATATTATATATTTATATAAAAATATATATAAAT ATATATTTATAAAAATATATATAAATATATATTTATATAAAAATATATAT AAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAAT ATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATAT AAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATAT TTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAAT ATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATAT ATAAATATATATTTATATAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02683.hp1 NA20805.hp1 HG01261.hp1 HG02683.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0001t0001 a0001c0001t0014 a0001c0002t0001	a0001c0001t0001g0066 a0001c0001t0014g0062 a0001c0002t0001g0080 a0001c0001t0001g0066 a0001c0001t0014g0062 a0001c0002t0001g0080	3	144	0.0208	371	c.190 others(390): Show c.190-46459_190-46458insTTTTATATAAATATATATTTATATAT ATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTT ATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATAT ATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTTTATATAAATATATATTTATAT ATATTTTTATATAAATATATATTTATATATATTTTTATAAATATATATTT ATATATATTTTTATATAAATATATAATATTTATATATATTTTTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATATTTA others(364): Show TATATTTATATAAAAATATATAAAAATATATATTTATATAAAAATATGTA TAAATATATATTTATATAAAAATATGTATAAATATATATTTATATAAAAA TATGTATAAATATATATTTATATATAAATATATAAAAATATATATAAATA TATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATA TTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0105 a0001c0001t0005g0105	1	144	0.0069	371	c.190 others(390): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTTTTATATAAATATATATTTATATA TATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATT TATATATATTTTTATATATTTATATATAAATATATATTTATACATATTTT TATATAAATATATATTTATACATATTTTTATATAAATATATATTTATACA TATTTTTATATAAATATATATTTTTATATATTTTTATATAAATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATATTTA others(364): Show TATATTTATATAAAAATATGTATAAATATATATTTATATAAAAATATGTA TAAATATATATTTATATAAAAATATGTATAAATATATATTTATATATAAA TATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATA TATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATATAAATATATATAAATATATATTTATA TAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATA TTTATATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0068 a0001c0001t0009g0068	1	144	0.0069	371	c.190 others(390): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATATA AATATATATTTATATATATTTATATATAAATATATATTTATATATATTTT TATATAAATATATATTTATATATATTTTTATATAAATATATATTTATATA TATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATT TATATATATTTTTATATAAATATATATTTATATATATTTTTATATATTTA TATATAAATATATATTTATACATATTTTTATATAAATATATATTTATACA TATTTTTATATAAATATATATTTATACATATTTTTATATAAATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
STOML3_chr13_38960925_38995831	38988320	T T	TTATATTT others(364): Show TTATATTTTATATCATATATTTTATATAAAATATATTATATTTTATATCA TATATTTTATATAAAATATATTATATTATATATAAAATATATTATATTTT ATATAAAATATATTATATTTTATATCATATATTTTATATATAATATATTA TATTTTATATCATATATTTTATATATAATATATTATATTTTATATCATAT ATTTTATATATAATATATTATATTTTATATCATATATTTTATATATAATA TATTATATTTTATATCATATATTTTATATATAATATATTATATTTTATAT CATATATTTTATATATAATATATTATATTTTATATCATATATTTTATATA TAATATATTATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	396	0.0025	371	c.52+ others(386): Show c.52+2349_52+2350insTGATATAAAATATAATATATTATATATAAA ATATATGATATAAAATATAATATATTATATATAAAATATATGATATAAAA TATAATATATTATATATAAAATATATGATATAAAATATAATATATTATAT ATAAAATATATGATATAAAATATAATATATTATATATAAAATATATGATA TAAAATATAATATATTATATATAAAATATATGATATAAAATATAATATAT TATATATAAAATATATGATATAAAATATAATATATTTTATATAAAATATA ATATATTTTATATATAATATAATATATTTTATATAAAATATATGATATAA AATATAATATATTTTATATAAAATATATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SUFU_chr10_102498972_102638535	102637540	A A	ATATAATA others(364): Show ATATAATATATATTATATATTATATAACTATATTATATATAATATATATA TTATATTATAACTATATATTATATATATATATATATTATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTACTATATATTATATAATATATATATATATTATATAACTATATATA TATAATATATAACTATATATTATATAACTATATATTATATATATATATAT ATTATATATTATATAACTATATATTATATATAATAATATATATTATATAT TATATAACTATATATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	268	0.0037	371	c.73 others(382): Show c.7385_*7386insTATAATATATATTATATATTATATAACTATATTA TATATAATATATATATTATATTATAACTATATATTATATATATATATATA TTATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTACTATATATTATATAATATATATATATATT ATATAACTATATATATATAATATATAACTATATATTATATAACTATATAT TATATATATATATATATTATATATTATATAACTATATATTATATATAATA ATATATATTATATATTATATAACTATATATTATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4006		chr10	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(364): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGG GGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGA GGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGG AGGGAGGGGGGAGAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGG GAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19063.hp1 NA19067.hp1 HG02132.hp2 NA19063.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0016 a0001c0003t0044 a0001c0002t0016 a0001c0003t0044	a0001c0002t0016g0192 a0001c0002t0016g0193 a0001c0003t0044g0194 a0001c0002t0016g0192 a0001c0002t0016g0193 a0001c0003t0044g0194	3	276	0.0109	371	c.-18 others(390): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCC CCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTC CCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCT CCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(364): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGGAGGGAGGGCG TGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGTGGCGGGAGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGCATGGGGGG AGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0059 a0003c0059	a0003c0059t0001 a0003c0059t0001	a0003c0059t0001g0311 a0003c0059t0001g0311	1	314	0.0032	371	c.309 others(390): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCCCCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCT CCTCCCGCCACCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCACGCC CTCCCTCCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCGCC TGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCTCCC TCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGCCG TCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCCCC CACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48678998	C C	CGTCCATC others(364): Show CGTCCATCCCTCTCCTGGTTCCCCAGCTCCCCCTCCATCCCTCTCCCATC TCCCTGTCCATCCCTCTCCTGGCTCCCTGTCCATCCCTCTCCTGTCTCCC CGTCCATCCCTCTCCCGGCTCCCTGGCTCCCCAGCTCCCCGTCCATCCCT CTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCC GGTCTCCCTGTCCATCCCTCTCCCGGCTCCCCGGCTCCCCGGCTCCCCAG CTCCCCAACTCCCCAGCTCCCCGTCCATCCCTCTCCCAGCTCTGCGTCCA TCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCCTG TCCATCCCTCTCCCATCTCCCT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03225.hp2 HG01993.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0195 a0001c0001t0005g0080 a0001c0001t0002g0195 a0001c0001t0005g0080	2	258	0.0078	371	c.263 others(390): Show c.263-28705_263-28704insTGGTTCCCCAGCTCCCCCTCCATCCC TCTCCCATCTCCCTGTCCATCCCTCTCCTGGCTCCCTGTCCATCCCTCTC CTGTCTCCCCGTCCATCCCTCTCCCGGCTCCCTGGCTCCCCAGCTCCCCG TCCATCCCTCTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCA TCCCTCTCCGGTCTCCCTGTCCATCCCTCTCCCGGCTCCCCGGCTCCCCG GCTCCCCAGCTCCCCAACTCCCCAGCTCCCCGTCCATCCCTCTCCCAGCT CTGCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCC AGCTCCCTGTCCATCCCTCTCCCATCTCCCTGTCCATCCCTCTCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48678998	C C	CGTCCATC others(364): Show CGTCCATCCTTCTCCTGGTTCCCCAGCTCCCCCTCCATCCCTCTCCCATC TCCCTGTCCATCCCTCTCCTGGCTCCCTGTCCATCCCTCTCCTGTCTCCC CGTCCATCCCTCTCCCGGCTCCCTGGCTCCCCAGCTCCCCGTCCATCCCT CTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCC GGTCTCCCTGTCCATCCCTCTCCCGGCTCCCCGGCTCCCCGGCTCCCCAG CTCCCCAACTCCCCAGCTCCCCGTCCATCCCTCTCCCAGCTCTGCGTCCA TCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCCTG TCCATCCCTCTCCCATCTCCCT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	258	0.0039	371	c.263 others(390): Show c.263-28711_263-28710insTTCTCCTGGTTCCCCAGCTCCCCCTC CATCCCTCTCCCATCTCCCTGTCCATCCCTCTCCTGGCTCCCTGTCCATC CCTCTCCTGTCTCCCCGTCCATCCCTCTCCCGGCTCCCTGGCTCCCCAGC TCCCCGTCCATCCCTCTCCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCC TGTCCATCCCTCTCCGGTCTCCCTGTCCATCCCTCTCCCGGCTCCCCGGC TCCCCGGCTCCCCAGCTCCCCAACTCCCCAGCTCCCCGTCCATCCCTCTC CCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGG CTCCCCAGCTCCCTGTCCATCCCTCTCCCATCTCCCTGTCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(364): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCTCCCCT CCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCC CTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCC TCTCCCCTCCCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0123 a0004c0007t0002g0123	1	268	0.0037	371	c.186 others(388): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCTCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCTCTCC CCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCC CCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar

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