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
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(302): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATAAAGTATATATATAATATATATTATATATAAA GTATATATATAATATATATTATATATATATAAAATATATAATATATATTA TATATATAAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0212 a0002c0004t0011g0212	1	2	0.5000	309	c.730 others(326): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATTATATATATACTTTATATATAATATATATTAT ATATATTATATATATACTTTATATATAATATATATTATATATATTATATA TATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(302): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCTC TCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCCCTCCCCTC CCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCC TTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0147 a0001c0001t0010g0147	1	30	0.0333	309	c.433 others(326): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGA AGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(302): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCACCCTCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0185 a0001c0001t0113g0185	1	30	0.0333	309	c.433 others(326): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGG GAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAG GGGAGGGTGGGAGGGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(302): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	313	0.0032	309	c.-30 others(320): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(302): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATAAAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0113 a0003c0003t0003g0113	1	263	0.0038	309	c.150 others(324): Show c.1500+45_1500+46insATTTATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCC GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP160_chr11_47773118_47853350	47785088	T T	TGAGTTTC others(302): Show TGAGTTTCAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGG CGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01192.hp1 HG02738.hp1 others(1): Show HG01167.hp2 HG01192.hp1 HG02738.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0110 others(1): Show a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0110 a0002c0002t0001g0119	4	238	0.0168	309	c.374 others(324): Show c.3747-26_3747-25insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAATCTGAAACTC	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	32/35			chr11	TogoVar
NUP210L_chr1_153987690_154160073	154151282	T T	TTCATTGA others(302): Show TTCATTGATTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	227	0.0044	309	c.340 others(326): Show c.340+1453_340+1454insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGAATCAATGA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	2/39			chr1	TogoVar
NXN_chr17_794310_984776	841381	T T	TGCATCTC others(302): Show TGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACA CGGGCGAGCAGGTCCCCCCGACCATGGAGCATCTCACACGGGCGAGCAGG TCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCATGGAGCATCT CACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	188	0.0053	309	c.361 others(328): Show c.361-15304_361-15303insTCCGTGGTCAGGGTGGACCTGCTCGC CCGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGAT GCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCATGGTCG GGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGC TCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTG AGATGCTCCATGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCAGGGGGGACCTGCTCGCCCGTGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841407	C C	CCCCTGAC others(302): Show CCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCTGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCTCCCGACCACGGAGCATCTCAC ACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCA GGTCCCCCCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGA CCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATC TCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCG AGCAGGTCCA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	234	0.0043	309	c.361 others(328): Show c.361-15330_361-15329insTGGACCTGCTCGCCCGTGTGAGATGC TCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGG GAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCT TGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGG TCGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGAGGACC TGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCCCCCT others(302): Show TCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACC ACGGTGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCT CACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACACGGGCAAG CAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCC GACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGC ATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACACGGG CGAGCAGGTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	165	0.0061	309	c.361 others(328): Show c.361-15366_361-15365insGACCTGCTCGCCCGTGTGAGATGCTC CGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGC GGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTTGCCCGTGTGAGAT GCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCA GGGTGGACCTGCTCGCCCGTGTGAGATGCACCGTGGTCGGGAGGACCTGC TCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841455	C C	CGGAGCAT others(302): Show CGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTC ACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCAAGC AGGTCCACCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCG ACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGG CGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCC TCCCGACCAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	221	0.0045	309	c.361 others(328): Show c.361-15378_361-15377insATGGTCGGGAGGACCTGCTCGCGGGT GTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGC CGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGG GGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCG CGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGA TGCTCTGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCTCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841484	C C	CCCCGACC others(302): Show CCCCGACCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACG GAGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACG CCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAG GTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGA CCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCAT CTCACACCCACAGGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCA AGCAGGTCCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	171	0.0058	309	c.361 others(328): Show c.361-15407_361-15406insTGGACCTGCTTGCCCGTGTGAGATGC TCTGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCAGG GGGGACCTGCTCGCCGGCGTGAGATGCTCCGTGGTCAGGGGGGACCTGCT CGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGA GATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATG GTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGGGGAC CTGCTCGCCGGCGTGAGATGCTCCGTGGTCGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR4N2_chr14_19798770_19835253	19813844	T T	TTTTTTTT others(302): Show TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGC CCGCCACCACGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCCACC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp1 HG02071.hp2 others(22): Show HG01109.hp1 HG01257.hp1 HG02071.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02630.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG04115.hp2 NA18747.hp1 NA18950.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp2 NA19068.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0011	a0001c0001 a0002c0002 a0006c0005 others(2): Show a0001c0001 a0002c0002 a0006c0005 a0007c0008 a0011c0013	a0001c0001t0025 a0002c0002t0002 a0002c0002t0010 others(3): Show a0001c0001t0025 a0002c0002t0002 a0002c0002t0010 a0006c0005t0002 a0007c0008t0007 a0011c0013t0029	a0001c0001t0025g0114 a0002c0002t0002g0011 a0002c0002t0002g0015 others(14): Show a0001c0001t0025g0114 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0010g0029 a0002c0002t0010g0085 a0002c0002t0010g0087 a0006c0005t0002g0011 a0006c0005t0002g0086 a0006c0005t0002g0088 a0006c0005t0002g0089 a0006c0005t0002g0090 a0006c0005t0002g0091 a0007c0008t0007g0117 a0007c0008t0007g0118 a0007c0008t0007g0119 a0007c0008t0007g0120 a0011c0013t0029g0105	25	272	0.0919	309	c.-10 others(328): Show c.-10+10011_-10+10012insTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCACCTTTTTTTTTTT	OR4N2	ENSG00000176294.6	transcript	ENST00000557677.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
PADI2_chr1_17061761_17124451	17114628	T T	TAAGAAAC others(302): Show TAAGAAACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp1 HG03486.hp1 others(2): Show HG02886.hp1 HG03209.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0001c0004 a0001c0005 others(2): Show a0001c0003 a0001c0004 a0001c0005 a0001c0042 a0008c0044	a0001c0003t0004 a0001c0004t0026 a0001c0005t0011 others(2): Show a0001c0003t0004 a0001c0004t0026 a0001c0005t0011 a0001c0042t0011 a0008c0044t0006	a0001c0003t0004g0345 a0001c0004t0026g0329 a0001c0005t0011g0330 others(2): Show a0001c0003t0004g0345 a0001c0004t0026g0329 a0001c0005t0011g0330 a0001c0042t0011g0331 a0008c0044t0006g0344	5	338	0.0148	309	c.92+ others(324): Show c.92+4651_92+4652insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCATCGTTTCTT	PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	1/15			chr1	TogoVar
PCBP3_chr21_45638725_45947450	45909853	G G	CCCACCCA others(302): Show CCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACGGA CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACT GCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCCACCCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATA CGGACCCCCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	157	0.0064	309	c.471 others(321): Show c.471+367delGinsCCCACCCACTGCCCAGATACGGACCCGGCCACCC ACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCC CCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGG ACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAG ATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACT GCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCTCC ACCCACTGCCCAGATACGGACCCCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PCDH11X_chrX_91774375_92628230	92550269	T T	TAAAAAGC others(302): Show TAAAAAGCATATTAGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGG CGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACT CCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18995.hp1 HG03710.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0128 a0001c0001t0001g0134	2	151	0.0132	309	c.336 others(330): Show c.3368-67982_3368-67981insGCCGGGCGTGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCAGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCG CGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGCATATTA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCSK5_chr9_75885673_76367975	76280866	T T	TAAAAAAG others(302): Show TAAAAAAGAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01884.hp1 others(4): Show HG01069.hp1 HG01071.hp2 HG01884.hp1 HG02897.hp2 HG02965.hp2 HG03225.hp2 HG03486.hp2	a0004 a0014 a0026 others(2): Show a0004 a0014 a0026 a0032 a0044	a0004c0006 a0004c0035 a0014c0029 others(3): Show a0004c0006 a0004c0035 a0014c0029 a0026c0093 a0032c0096 a0044c0082	a0004c0006t0012 a0004c0035t0047 a0014c0029t0009 others(3): Show a0004c0006t0012 a0004c0035t0047 a0014c0029t0009 a0026c0093t0004 a0032c0096t0039 a0044c0082t0001	a0004c0006t0012g0143 a0004c0006t0012g0145 a0004c0035t0047g0123 others(4): Show a0004c0006t0012g0143 a0004c0006t0012g0145 a0004c0035t0047g0123 a0014c0029t0009g0119 a0026c0093t0004g0051 a0032c0096t0039g0009 a0044c0082t0001g0075	7	141	0.0496	309	c.314 others(330): Show c.3143-11357_3143-11356insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	24/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDIA2_chr16_278164_292215	285902	T T	TCCCAACC others(302): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCAAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0023 a0023	a0023c0038 a0023c0038	a0023c0038t0002 a0023c0038t0002	a0023c0038t0002g0046 a0023c0038t0002g0046	1	406	0.0025	309	c.111 others(326): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCAACACCAACC CCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTC TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCA ACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDSS1_chr10_26692701_26751798	26702234	T T	TGAGTTAA others(302): Show TGAGTTAAGACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCGGGGTTGGTCTCGATCTCCTGACCTCGTGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02257.hp1 HG02280.hp2 others(9): Show HG01192.hp2 HG02257.hp1 HG02280.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0001g0143 a0001c0001t0001g0144 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0003g0146	12	411	0.0292	309	c.162 others(322): Show c.162+54_162+55insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCGGGGTTGGTCTCGATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGAGTTAAGACTTTT	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS1_chr10_26692701_26751798	26702234	T T	TGAGTTAA others(302): Show TGAGTTAAGACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCGGGGTTGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03540.hp2 NA18522.hp2 HG02965.hp1 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155	3	402	0.0075	309	c.162 others(322): Show c.162+54_162+55insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCGGGGTTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGAGTTAAGACTTTT	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIGK_chr1_77083989_77224430	77168629	T T	TAAAATTG others(302): Show TAAAATTGCTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0036	1	295	0.0034	309	c.375 others(324): Show c.375+630_375+631insTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTGAAGCAATTTT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	4/10			chr1	TogoVar
PIGU_chr20_34555542_34682092	34670506	T T	TTTTTTTT others(302): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCG CCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	318	0.0031	309	c.130 others(326): Show c.130+6449_130+6450insGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCA TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	1/11			chr20	TogoVar
PINX1_chr8_10759961_10844875	10781958	T T	TAAAGAAA others(302): Show TAAAGAAACTGTGGTGTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0089 a0001c0006t0001g0089	1	342	0.0029	309	c.472 others(328): Show c.472-16043_472-16042insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGTGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCACACCACAGTTTCTTT	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(302): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0111 a0001c0003t0001g0111	1	58	0.0172	309	c.173 others(326): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401613	G G	GCCCCGCT others(302): Show GCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCGGACCC CGCTCACCCCCGCCCCGCTCACACCCGACCCCGCTCACACCCGCCCCGCT CACCCCCGCCCCGCTCACCCCCGCCCCGCTCACTCCCGGACCCCGCTCAC CCCCGCCCCGCTCACACCCGACCCCGCTCACACCCGCCCCGCTCACCCCC GCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACACCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCCGCTCACCCCCCGCCCC GCTCACCCCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0073 a0001c0004t0001g0073	1	199	0.0050	309	c.173 others(326): Show c.1737+908_1737+909insCCCCGCTCACCCCCGGCCCGCTCACACC CGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACACCCGAC CCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGC TCACTCCCGGACCCCGCTCACCCCCGCCCCGCTCACACCCGACCCCGCTC ACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCC GGACCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCG CCCCCGCTCACCCCCCGCCCCGCTCACCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PNPLA7_chr9_137454952_137555402	137517968	T T	TCACTCCA others(302): Show TCACTCCATCCCCCACTCACTCACTCGACTCTGTCCACTCCATCCCCCAC TCACTCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTG TCCACTCCATCCCTCACTCACTCACTCCACTCTGTCCACTCCATCCCCCA CTCACGCACTCACTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCC ACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCAT CCCTCATTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTGACT CCACTCTGTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0039 a0001c0041t0001g0039	1	97	0.0103	309	c.108 others(328): Show c.1084+1948_1084+1949insGACAGAGTGGAGTCAGTGAGTGGGGG ATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGGATGGAGTGGACAGAGT GGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGG GGATGGAGTGGACAGAGTGGAGTGAGTGCGTGAGTGGGGGATGGAGTGGA CAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTGGAGTGAGTG ACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGG ACAGAGTCGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518209	T T	TCACTCCA others(302): Show TCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCTCAT TCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTGACTCCACTCT GTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCC ACTCACTCACTCGACTCTGTCCACTCCATCCCCCACTCACTCACTCCACT CTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATCCCT CACTCACTCACTCCACTCTGTCCACTCCATCCCCCACTCACGCACTCACT CCACTCTGTC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	184	0.0054	309	c.108 others(328): Show c.1084+1707_1084+1708insGACAGAGTGGAGTGAGTGCGTGAGTG GGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACA GAGTGGAGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGT GGGGGATGGAGTGGACAGAGTCGAGTGAGTGAGTGGGGGATGGAGTGAGC AGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTCAGTGA GTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGGATGGAGTGG ACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PPARA_chr22_46145526_46248755	46227138	A A	AATGTGCT others(302): Show AATGTGCTTCATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02622.hp2 others(1): Show HG01884.hp1 HG02486.hp1 HG02622.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0057 a0001c0001t0008 a0001c0001t0017 a0001c0001t0057	a0001c0001t0008g0040 a0001c0001t0017g0159 a0001c0001t0017g0194 others(1): Show a0001c0001t0008g0040 a0001c0001t0017g0159 a0001c0001t0017g0194 a0001c0001t0057g0160	4	174	0.0230	309	c.712 others(326): Show c.712-4638_712-4637insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGATGTGCTTCATATTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARA_chr22_46145526_46248755	46227138	A A	AATGTGCT others(302): Show AATGTGCTTCATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG02818.hp1 others(2): Show HG01884.hp2 HG02572.hp2 HG02818.hp1 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0025 a0001c0001t0064 a0001c0001t0015 a0001c0001t0025 a0001c0001t0064	a0001c0001t0015g0058 a0001c0001t0015g0059 a0001c0001t0015g0079 others(2): Show a0001c0001t0015g0058 a0001c0001t0015g0059 a0001c0001t0015g0079 a0001c0001t0025g0157 a0001c0001t0064g0006	5	175	0.0286	309	c.712 others(326): Show c.712-4638_712-4637insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGATGTGCTTCATATTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP1R21_chr2_48435766_48520386	48502400	T T	TAAAAAGA others(302): Show TAAAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0335 a0001c0003t0028g0335	1	362	0.0028	309	c.193 others(328): Show c.1936-3156_1936-3155insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAG	PPP1R21	ENSG00000162869.16	transcript	ENST00000294952.13	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(302): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGGGGCCCCGC GGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG03669.hp1 HG01255.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0257 a0001c0001t0001g0053 a0001c0001t0001g0257	2	302	0.0066	309	c.30 others(320): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCGC CGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTCGCCGCCGCC GCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCACAGCGCCCCC CTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGGCCGCGCCCC TGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTGGCGCCCCCG GCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCGGGAGCCGCC GCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(302): Show CCGGCGGCTGTGGCGGCGGCGGCTCCCGGGCGGCGACGGCGGGCGGGGGG GCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGCGGCTGGCGC GGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGGGGCCCGGCT GCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCGGCCGCGCGG GGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGGTGGCGGCGG GGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGGGGGCCCCGC GGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02622.hp1 HG02602.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0252 a0001c0001t0001g0239 a0001c0001t0001g0252	2	302	0.0066	309	c.30 others(320): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCG GGAGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2106871	C C	CCCTCCGG others(302): Show CCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAG GTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCA CCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCAC ACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAG GACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGG TGGGCGAGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp2 HG03669.hp1 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0233 a0001c0003t0001g0088 a0001c0002t0001g0233 a0001c0003t0001g0088	2	264	0.0076	309	c.335 others(328): Show c.335-28386_335-28385insGGTGGGCGAGGACCTCCATGCGTGTC ACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCA TGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGA GGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCG GTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAG GCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACT CTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122647	G G	GTCACAGC others(302): Show GTCACAGCGATAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATA GTTAGCGTCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	221	0.0045	309	c.335 others(328): Show c.335-12614_335-12613insCACAGCGATAGTTAGCGTCATGGTGG TGGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACAGCGATAGTTAGCGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(302): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC CCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCC CCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	73	0.0137	309	c.23 others(320): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PTP4A3_chr8_141387021_141437454	141429985	A A	AGGACCAG others(302): Show AGGACCAGATGGCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGT AAGGACCAGGTGGCGGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCG CTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCCGGTGGCTGGGGACAGGGTGAGCGTACAGCCCAGGTTT CCGCTGTAAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	322	0.0031	309	c.405 others(324): Show c.405-935_405-934insATGGCGGGGACAGGGTGAGCACACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGT CCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAG TCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACA GTCCGGGTCCCCGCTGTAAGGACCCGGTGGCTGGGGACAGGGTGAGCGTA CAGCCCAGGTTTCCGCTGTAAGGGACCAG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPRG_chr3_61556571_62302609	61909689	A A	ACTGAAGT others(302): Show ACTGAAGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03540.hp1 HG02896.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0016 a0001c0019t0001 a0001c0001t0016 a0001c0019t0001	a0001c0001t0016g0031 a0001c0019t0001g0069 a0001c0001t0016g0031 a0001c0019t0001g0069	2	94	0.0213	309	c.191 others(328): Show c.191-79926_191-79925insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGAAGTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(302): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGG TCTCCACGAGGCCCCCCAGCTCCACTGCGCCCCGCCCCAGCCTCATCGCG CCACACCCCA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0154 a0001c0002t0006g0154	1	140	0.0071	309	c.329 others(326): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGC TGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCC TCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTG GGGCGGGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCTTGCTCCC AAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGG GGCCTCGTGGAGACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(302): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCCAGCTCCACT GCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTG GTCTCCACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCG CCACACCCCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	140	0.0071	309	c.329 others(326): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGGCC TCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTG GGGCGGGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCTTGCTCCC AAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGG GGCCTCGTGGAGACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGA others(302): Show TCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	235	0.0043	309	c.126 others(328): Show c.1265+3387_1265+3388insGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(302): Show AGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCG AGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTC CAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCCGAG GCCGCCCAGG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	132	0.0076	309	c.126 others(328): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCCGAGGCCGCCCAGGGCCCTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(302): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02922.hp2 HG02559.hp2 HG02809.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0125 a0001c0001t0003g0254 a0001c0001t0003g0255	3	159	0.0189	309	c.24- others(324): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGT ATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(302): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG03209.hp1 HG02258.hp1 HG02630.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0230 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0230	3	159	0.0189	309	c.24- others(324): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGT ATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(302): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00735.hp1 others(38): Show HG00438.hp2 HG00558.hp1 HG00735.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02074.hp1 HG02145.hp2 HG02257.hp2 HG02717.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 NA18940.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19005.hp1 NA19043.hp1 NA19064.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 others(38): Show a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0248 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0265	41	197	0.2081	309	c.24- others(324): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGT ATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(302): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAACA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG01891.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0246 a0001c0001t0001g0247	2	158	0.0127	309	c.24- others(324): Show c.24-1846_24-1845insTTTTTTTTTTTGTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGT ATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(302): Show CAAAAATCTTCTAAACAAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0318 a0001c0001t0004g0318	1	157	0.0064	309	c.24- others(324): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCGT ATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCACCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RALYL_chr8_84178274_84926844	84525029	G G	GCCTCAAT others(302): Show GCCTCAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAAGCCAAGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG00741.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0077 a0001c0001t0008g0027 a0001c0001t0001g0077 a0001c0001t0008g0027	2	71	0.0282	309	c.-23 others(326): Show c.-23-4260_-23-4259insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAAGCCAAGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGACCTCAATTTT	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAVER1_chr19_10311212_10338529	10337272	C C	CTGGGTGT others(302): Show CTGGGTGTGGTAGTGCACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGG CAGGAGAATCTCTTGAACTTGGGAGGTGGAGGTTGCAGTGAGCAAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCCAAAAA AAAAAAAAGAAGAAGAAGAAGAAAAGGCCAGGTGCAGTGGCTCACGCCTG TAATCCCAACACTTTAGGAGGCGGAGGCAGGCAGATCATGAGGTCAGAAG TTCGAGACCAGCTTGACCACATGGTGAAACCCTGTCTCTACTAAAAATAC AAAAATTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0258 a0001c0003t0003g0258	1	380	0.0026	309	c.-37 others(320): Show c.-3766_-3765insACTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCATGTGGTCAAGCTGGTCTCGAACTTCTGACCTCATGATCTGCCTGC CTCCGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGGC CTTTTCTTCTTCTTCTTCTTTTTTTTTTTTTGGAGATGGAGTCTCACTCT GTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGCTCACTGCAACCTCCA CCTCCCAAGTTCAAGAGATTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGA CTACAGGTGTGCACTACCACACCCA	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding		3744		chr19	TogoVar
RBFOX1_chr16_6014024_7718340	6372940	G G	GTTGTGTA others(302): Show GTTGTGTAGAATGGAGATTGGGTGGAAGTATAGTCGGATGGGAGGATGGT TGGTAAGGATCTTTGGGTAGGAGGATGGTTGGATGGAATGGAGATTCAGT GGCAGAGTATAGTTGGATGGAAGGATAGTTCATTGTGATCACTGGGTAGG AGTATTGTCGGGTGGAATGGAGATTGGGTGGAAGTATAACTGGATGGGAG GATTGTTGTTTAGGATCTTTGGGTAGGAGGATGTTTGGGTGGAGTGGAGA TTCAGCGGAAGTGTATAGTTGGATAGAAGGATAGTTCGTTGGGATCACTG GGTAGGAGGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19240.hp1 HG03139.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0023 a0001c0001t0011 a0001c0001t0023	a0001c0001t0011g0035 a0001c0001t0023g0047 a0001c0001t0011g0035 a0001c0001t0023g0047	2	44	0.0455	309	c.-64 others(328): Show c.-64+55927_-64+55928insATGGTTGGTAAGGATCTTTGGGTAGG AGGATGGTTGGATGGAATGGAGATTCAGTGGCAGAGTATAGTTGGATGGA AGGATAGTTCATTGTGATCACTGGGTAGGAGTATTGTCGGGTGGAATGGA GATTGGGTGGAAGTATAACTGGATGGGAGGATTGTTGTTTAGGATCTTTG GGTAGGAGGATGTTTGGGTGGAGTGGAGATTCAGCGGAAGTGTATAGTTG GATAGAAGGATAGTTCGTTGGGATCACTGGGTAGGAGGATTGTGTAGAAT GGAGATTGGGTGGAAGTATAGTCGGATGGGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6372940	G G	GTTGTGTA others(302): Show GTTGTGTAGAATGGAGATTGGGTGGAAGTATAGTCGGATGGGAGGATGGT TGGTAAGGATCTTTGGGTAGGAGGATGGTTGGATGGAATGGAGATTCAGT GGCAGAGTATAGTTGGATGGAAGGATAGTTCATTGTGATCACTGGGTAGG AGTATTGTTGGGTGGAATGGAGATTGGGTGGAAGTATAACTGGATGGGAG GATTGTTGTTTAGGATCTTTGGGTAGGAGGATGTTTGGGTGGAGTGGAGA TTCAGCGGAAGTGTATAGTTGGATAGAAGGATAGTTCGTTGGGATCACTG GGTAGGAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(21): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00609.hp2 HG00741.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG03927.hp2 NA18522.hp2 NA18994.hp1 NA19240.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0003c0003t0034	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 others(21): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0044 a0001c0001t0003g0010 a0001c0001t0003g0041 a0001c0001t0003g0049 a0001c0001t0009g0036 a0001c0001t0010g0037 a0001c0001t0017g0014 a0001c0001t0018g0052 a0001c0001t0024g0008 a0001c0001t0026g0051 a0001c0001t0030g0024 a0001c0001t0039g0019 a0001c0001t0040g0064 a0001c0001t0041g0021 a0001c0001t0043g0003 a0003c0003t0034g0061	24	66	0.3636	309	c.-64 others(328): Show c.-64+55927_-64+55928insATGGTTGGTAAGGATCTTTGGGTAGG AGGATGGTTGGATGGAATGGAGATTCAGTGGCAGAGTATAGTTGGATGGA AGGATAGTTCATTGTGATCACTGGGTAGGAGTATTGTTGGGTGGAATGGA GATTGGGTGGAAGTATAACTGGATGGGAGGATTGTTGTTTAGGATCTTTG GGTAGGAGGATGTTTGGGTGGAGTGGAGATTCAGCGGAAGTGTATAGTTG GATAGAAGGATAGTTCGTTGGGATCACTGGGTAGGAGGATTGTGTAGAAT GGAGATTGGGTGGAAGTATAGTCGGATGGGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar

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