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
NOTCH1_chr9_136489433_136551048	136535944	A A	AGGGGAGC others(358): Show AGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGA GAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTGG GGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGA GAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGG GGGGGAGCACTCAGGATCCCTCCTGGGGCAATGAGTGCAGGGTGGGTGGA GAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGAGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGG TGGGAGTGGGTGGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	324	0.0031	365	c.140 others(382): Show c.140+8079_140+8080insCCTCCACCCACTCCCACCATGCACCCAT TGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCATG CACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCT GCACTCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTG CACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCT GCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCCACCCACCATG CACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCT GCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(358): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGGTGGCGGTAATGAGAGGTCATACCGG GTGGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGA GGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGG CGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACC GGGTGGGGTGGGGTAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	208	0.0048	365	c.346 others(384): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACC CGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACC CCACCCCACCCGGTATGACCTCTCACTACCCCACCCCCACCCGGTATGAC CTCTCATTACCGCCACCCCCACCCGGTATGACCTCTCACTACCCCACCCC ACCTGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATT ACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTAT GACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(358): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCACCCTCCCCCCCTCCC CTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCCTCCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTT CCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCC TCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0283 a0001c0001t0052g0283	1	326	0.0031	365	c.433 others(382): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGG AAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGG GGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGA GGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OPRL1_chr20_64075082_64105633	64094273	T T	TGGGGGGC others(358): Show TGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGG GGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGT CAGTGTGCGGGCAGTGTGTGGGGGTCAGTGTGGGGGGCAGTGTGGGGGCA GTGTGTGGGTCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTG TGGGGGGCAGTGTGGGGGTCAGTGTGGGGGCAGTGTGGGGGCAGTGTGGG GGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGCGGGC AGTGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGGGGGCAG TGTGTGGGTCAGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	66	0.0152	365	c.233 others(382): Show c.233+1323_233+1324insGGGCAGTGTGGGGGGCAGTGTGGGGGCA GTGTGTGGGTCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTG TGGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGTGTGTGGGGGTCAGTGTG GGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGGGGGCAGTGTGGGGG GCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGTCAGTGTGGGGGCA GTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGT GTGGGTCAGTGTGCGGGCAGTGTGTGGGGGGCAGTGTGGGGGGCAGTGTG GGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(358): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	438	0.0023	365	c.-29 others(380): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAA TAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(358): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18994.hp1 NA19078.hp2 others(1): Show HG02970.hp1 NA18994.hp1 NA19078.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0107 a0001c0001t0002g0073 a0002c0002t0003g0096 a0001c0001t0001g0107 a0001c0001t0002g0073 a0002c0002t0003g0096	4	438	0.0091	365	c.-29 others(380): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAA TAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(358): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA19007.hp2 NA19009.hp2 HG04199.hp1 NA19007.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0120 a0001c0001t0001g0038 a0001c0001t0001g0120	3	438	0.0069	365	c.-29 others(380): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAA TAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(358): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02083.hp2 HG03490.hp2 others(2): Show HG00558.hp1 HG02083.hp2 HG03490.hp2 HG04115.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	5	438	0.0114	365	c.-29 others(380): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA TAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(358): Show ACTGAATGTACATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	438	0.0023	365	c.-29 others(380): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(358): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00140.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	2	438	0.0046	365	c.-29 others(380): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(358): Show AGGGAAGGGAAGAGGGGGGGGAAAGGGAAGGGAAGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGG GGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGAGG GGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGG AGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAG GGGGGAGGGGAGGGGGAGGGAGGGGGGGAGGGGGAGGGGGGAGGGGAGGG GGAGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAA GGGAAGGGGAGGGAAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	302	0.0033	365	c.155 others(382): Show c.1551+378_1551+379insCTTCCCTCCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCT CCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTTCCCTTCCCTTTCCCCCCCCTCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALLD_chr4_168492052_168933441	168793366	C C	CATATATA others(358): Show CATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCA TATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATA TATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATA TATACATATATATGTGTGCATATATATACATATATATGTGTGCATATATA TACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATA CATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACA TATATATGTGTGCATATATATACATATATATGTGATATATATCGCATATA TATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	156	0.0064	365	c.196 others(386): Show c.1964+81451_1964+81452insACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GATATATATCGCATATATATACATATATATGTGATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARD3B_chr2_204540475_205625162	205134941	T T	TTTAGTTT others(358): Show TTTAGTTTCCATTTATCTCATTTTAAAGATGAAAGTGAGGTACAGAAACA CTGCCCCTTACCAGCATTTACATCGTCAAAATCAGAAATACGACTGGGTG TGGTGGCTCATGCCTGTAATCCCATCACTTCAGGAGGCTGAGGTTGGTGG ATTGCTTGAACCCAGGAGTTTGAGACCAGGCTGGACAACATGGTGAAACC CCATCTCTACAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGCACACACC TGTAGTCCCAGCCACTTGGTAGGCTGAGGCAGGAGGATCATCTGAGCCTA GAGAAGTAGAGGCTGTAGTGAACCAAGATCATGCCACTGCACTCTAGCCT GGGCAACAGACTAGAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0009 a0003c0009t0009	a0003c0009t0009g0039 a0003c0009t0009g0039	1	54	0.0185	365	c.143 others(384): Show c.1434+9204_1434+9205insTTAGTTTCCATTTATCTCATTTTAAA GATGAAAGTGAGGTACAGAAACACTGCCCCTTACCAGCATTTACATCGTC AAAATCAGAAATACGACTGGGTGTGGTGGCTCATGCCTGTAATCCCATCA CTTCAGGAGGCTGAGGTTGGTGGATTGCTTGAACCCAGGAGTTTGAGACC AGGCTGGACAACATGGTGAAACCCCATCTCTACAAAAAAAAAAAAAAATT AGCCAGGCATGGTGGCACACACCTGTAGTCCCAGCCACTTGGTAGGCTGA GGCAGGAGGATCATCTGAGCCTAGAGAAGTAGAGGCTGTAGTGAACCAAG ATCATGCCACTGCACTCTAGCCTGGGCAACAGACTAGAC	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	10/22			chr2	TogoVar
PARD3_chr10_34104561_34820296	34665840	A A	AACACAGA others(358): Show AACACAGAACAGAACAGAACAGAACAGAAGAGAACAGAACAGAAGAGAAC AGAACAGAAGAGAACAGAACAGAAGAGAACAGAACAGAAGAGAACAGAAG AGAACAGAAGAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAAC AGAACAGAACAGAACAGAACAGAACAGAAAACAGAACAGAACAGAAAACA GAACAGAACAGAAAACAGAACAGAACAGAAAACAGAACAGAACAGAAAAC AGAACAGAACAGAAAACAGAACAGAACAGAACAGAACAGAACAGAACAGA ACAGAACAGAACAGAACAGAACAGAACAACAGAACAGAACAACAGAACAG AACAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	100	0.0100	365	c.222 others(384): Show c.222+30477_222+30478insGTTCTGTTCTGTTGTTCTGTTCTGTT GTTCTGTTCTGTTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGT TCTGTTCTGTTCTGTTCTGTTCTGTTTTCTGTTCTGTTCTGTTTTCTGTT CTGTTCTGTTTTCTGTTCTGTTCTGTTTTCTGTTCTGTTCTGTTTTCTGT TCTGTTCTGTTTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCT GTTCTGTTCTGTTCTGTTCTGTTCTGTTCTCTTCTGTTCTCTTCTGTTCT CTTCTGTTCTGTTCTCTTCTGTTCTGTTCTCTTCTGTTCTGTTCTCTTCT GTTCTGTTCTCTTCTGTTCTGTTCTGTTCTGTTCTGTGT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PCBP3_chr21_45638725_45947450	45909791	C C	CCCCCCCC others(358): Show CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAG ATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACT GCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCC CAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCC ACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	292	0.0034	365	c.471 others(380): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATAC GGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCC ACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCC CCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGA CCCCCCCCACCCACTGCCCAGATACGGACCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45910134	C C	CGCCCACT others(358): Show CGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGAC CTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATAC AGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCC AGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACA CACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGG CCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGA CCCCCCCCCACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCCAGA TACGGACCCCCCGCCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02015.hp1 HG03017.hp2 others(8): Show HG01167.hp2 HG02015.hp1 HG03017.hp2 HG03239.hp2 HG03540.hp1 NA18962.hp1 NA18983.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0018	a0001c0001t0001g0164 a0001c0001t0002g0010 a0001c0001t0002g0240 others(8): Show a0001c0001t0001g0164 a0001c0001t0002g0010 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0271 a0001c0001t0002g0284 a0001c0001t0007g0234 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0258 a0001c0001t0018g0266	11	292	0.0377	365	c.471 others(380): Show c.471+648_471+649insGCCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGG CCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGA CCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCAG ATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGC TTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCC ACCACTGCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATATGGACC TGGCCACCCACTGCCCAGATACGGACCCCCCGCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45910134	C C	CGCCCACT others(358): Show CGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGAC CTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATAC AGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCC AGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCACACA CACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGG CCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGA CCCCCCCCCACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCCAGA TACGGACCCCCCGCCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	292	0.0034	365	c.471 others(380): Show c.471+648_471+649insGCCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGG CCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGA CCCCCCCAACCCACTTCCCAGATACGGACCCCCCCCCACCCACTGCCCAG ATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGC TTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCC ACCACTGCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATATGGACC TGGCCACCCACTGCCCAGATACGGACCCCCCGCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PDIA2_chr16_278164_292215	285949	C C	CCCCAACC others(358): Show CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCC CAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCT CCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0058 a0006c0014t0002g0058	1	436	0.0023	365	c.111 others(382): Show c.1119+272_1119+273insAACCCCGCGGTTCTCCCAACCCCAACCC CAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC CCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCC GCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCC CAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PERM1_chr1_970198_987093	977470	C C	CCCCCGCA others(358): Show CCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACC GCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAATC CCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCACG ACCCCCAATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0190 a0002c0005t0009g0190	1	408	0.0025	365	c.215 others(382): Show c.2150-847_2150-846insTGGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGT TGCGGGGGGAGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGG TTCTCGGGGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCG TGGGAGGCGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGT TGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGCGGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PGAP6_chr16_365788_386978	370285	C C	CCCTACCC others(358): Show CCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCA CCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACT CACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CACTCACCCCCTAACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	376	0.0027	365	c.17 others(376): Show c.1701_*1702insAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGA GAGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGTGCCGGGGGCCGGGGTAGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		502		chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(358): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGGCACCG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04204.hp1 HG03239.hp2 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	2	408	0.0049	365	c.-10 others(382): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCACCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(358): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGGCACCG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0305 a0001c0002t0002g0305	1	408	0.0025	365	c.-10 others(382): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCACCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(358): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGGCACCG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01975.hp2 HG01255.hp1 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0309 a0001c0002t0002g0310	2	408	0.0049	365	c.-10 others(382): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCACCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIMREG_chr17_6439455_6456469	6455713	G G	GGGGAGGA others(358): Show GGGGAGGAGATGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGAGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGCGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG GGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGGAAGAGGAGGGAAAGGGG GAAGAGGGGGATGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	312	0.0032	365	c.53 others(376): Show c.5366_*5367insGGGAGGAGATGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAATAGGGGAGGGAGGAGAGGAGGGAAGAGGGAAGAGGGGAGG GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGA GGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGCGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGGAA GAGGAGGGAAAGGGGGAAGAGGGGGATGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4245		chr17	TogoVar
PJA2_chr5_109329722_109414974	109354509	T T	TATAGATT others(358): Show TATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCT ATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATA TCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGA TATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTGGAT ATCTATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTCGATATCTATGATATCTAGAGATATCTATAGATTAGATA TCTATGATATCTAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0083 a0003c0003t0002g0083	1	346	0.0029	365	c.176 others(384): Show c.1764+1405_1764+1406insCTCTAGATATCATAGATATCTAATCT ATAGATATCTCTAGATATCATAGATATCGAATCTATAGATATCTCTAGAT ATCATAGATATCTAATCTATAGATATCTCTAGATATAGATATCCAATCTA TAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATA TCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATC TATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGA TATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAA TCTATAGATATCTCTAGATATCATAGATATCTAATCTAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(358): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGG GAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA AGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGAAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0004 a0004c0014t0004	a0004c0014t0004g0024 a0004c0014t0004g0024	1	134	0.0075	365	c.575 others(386): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(358): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA AGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19054.hp1 HG01243.hp2 NA19054.hp1	a0001 a0019 a0001 a0019	a0001c0002 a0019c0089 a0001c0002 a0019c0089	a0001c0002t0001 a0019c0089t0002 a0001c0002t0001 a0019c0089t0002	a0001c0002t0001g0107 a0019c0089t0002g0116 a0001c0002t0001g0107 a0019c0089t0002g0116	2	134	0.0149	365	c.575 others(386): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(358): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA AGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0118 a0001c0019t0001g0118	1	134	0.0075	365	c.575 others(386): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(358): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA AGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	134	0.0075	365	c.575 others(386): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(358): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGAAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG06807.hp1 HG01261.hp1 HG06807.hp1	a0001 a0043 a0001 a0043	a0001c0009 a0043c0066 a0001c0009 a0043c0066	a0001c0009t0001 a0043c0066t0003 a0001c0009t0001 a0043c0066t0003	a0001c0009t0001g0106 a0043c0066t0003g0098 a0001c0009t0001g0106 a0043c0066t0003g0098	2	134	0.0149	365	c.575 others(386): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(358): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGAAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0077 a0002c0077	a0002c0077t0002 a0002c0077t0002	a0002c0077t0002g0102 a0002c0077t0002g0102	1	134	0.0075	365	c.575 others(386): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(358): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGAAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0025 a0025	a0025c0050 a0025c0050	a0025c0050t0001 a0025c0050t0001	a0025c0050t0001g0023 a0025c0050t0001g0023	1	134	0.0075	365	c.575 others(386): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(358): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG GAAGAAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0027 a0003c0016t0001g0027	1	134	0.0075	365	c.575 others(386): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCC TCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLEKHG4B_chr5_87168_194966	165262	T T	TCAGTAAT others(358): Show TCAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCG GGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGAT GGGGTGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGC TCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGTCGGAGCTCACA CAGTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGG GGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACG GGGCGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCAGTAATCCTCT GACGGGGCGGAGCTCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0146 a0001c0007t0008g0146	1	210	0.0048	365	c.347 others(384): Show c.3476+1716_3476+1717insGTAATCCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGG GGCTCACAGTAATCCTCTGATGGGGTGGAGCTCACACTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCT CTGACGGGGTCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCAC ACTAATGCTCTGATGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGG GCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGG GGCGGGGCTCAGTAATCCTCTGACGGGGCGGAGCTCACA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(358): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCGGGACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGC CACCGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	294	0.0034	365	c.550 others(382): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(358): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02129.hp1 HG02040.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	354	0.0057	365	c.-27 others(374): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCC TCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCGCCTTC CTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCCC GCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCCGT CCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCC CTCCCCTCCTCCCCCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCC GCTCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PPP1R3A_chr7_113871777_113924009	113909427	G G	GTAATAAT others(358): Show GTAATAATAGTACCTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAGATCGAGA CCGTCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCCGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCGGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATAATAATAATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	294	0.0034	365	c.782 others(382): Show c.782+8787_782+8788insTTATTATTATTATTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCCGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGACGGTCTCGATCTCCT GACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTGGAGGTACTATTATTA	PPP1R3A	ENSG00000154415.8	transcript	ENST00000284601.4	protein_coding	1/3			chr7	TogoVar
PRDM8_chr4_80192503_80209329	80205715	T T	TCTACTAT others(358): Show TCTACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCAACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	420	0.0024	365	c.21 others(376): Show c.2183_*2184insCTACTATTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAACGCCATTCTCCTGCCTC AGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGC	PRDM8	ENSG00000152784.16	transcript	ENST00000415738.3	protein_coding		1387		chr4	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(358): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCCTCCCTCA TCCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCC CATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTAT CCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTC ATCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTC CCTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCA CCCCCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	386	0.0026	365	c.-58 others(380): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTG AGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGT GAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAG GATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGGT GACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGG ATGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(358): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCCTCCCTCA TCCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCC CATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTAT CCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTC ATCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	386	0.0026	365	c.-58 others(380): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGGTGAAGGATGGGGG AGGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGTGAAGGA TGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTG AGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGT GAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAG GATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGGT GACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGG ATGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(358): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCCTCCCC CATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTAT CCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTC ATCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTC CCTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCA CCCCCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	386	0.0026	365	c.-58 others(380): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTG AGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGT GAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGGTGA GGATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGT GACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGG ATGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(358): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCCTCCCCCATCCTTCACCCCCTC CCTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCA CCCCCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19054.hp2 HG00642.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0053 a0001c0001t0001g0054	2	386	0.0052	365	c.-58 others(380): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGA TGGGGGAGGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGT GAGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGG TGAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGA GGATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGT GACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGG ATGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(358): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCTCCCTCCCTCA TCCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCC CATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTAT CCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTC ATCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTC CCTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCA CCCCCTCCCTCATCCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	386	0.0026	365	c.-58 others(380): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTG AGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGT GAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAG GATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGAGGT GACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGG ATGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787286	A A	ACCCCCTC others(358): Show ACCCCCTCCCTCATCCTCACTCCTCTCTCATCACCCCTCCTCCATCCTTC ACCCCCCCATCGTCACCCCCTCCCTCATCCTCACCCCCTTCCTCCTCACT CCCCTCCCTCATCCTCACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCT CACCCTCATCCTCACCCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCA GCCCCCTCCTCCTCACTCCCCTCCCTCATCCTCACCCCTGTCTCATCCTC ACCCCCTCCCCCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCCC ATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCTCATCCTTCACCCC CTCCCTCATCCTTCAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	386	0.0026	365	c.-58 others(380): Show c.-58+246_-58+247insGTGAAGGATGAGGGAGGGGGTGAAGGATGA GGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGGGGGAGGGGGTGA AGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGACAGG GGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGGCTGAGGATGGAGGAG GGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGTGAGGACGAGGAGGGG TGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAAGG GGGTGAGGATGAGGGAGGGGGTGACGATGGGGGGGTGAAGGATGGAGGAG GGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787336	A A	ACCCCCCC others(358): Show ACCCCCCCATCGTCACCCCCTCCCTCATCCTCACCCCCTTCCTCCTCACT CCCCTCCCTCATCCTCACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCT CACCCTCATCCTCACCCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCA GCCCCCTCCTCCTCACTCCCCTCCCTCATCCTCACCCCTGTCTCATCCTC ACCCCCTCCCCCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCCC ATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCTCATCCTTCACCCC CTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCTCATCACCC CTCCTCCATCCTTCAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	386	0.0026	365	c.-58 others(380): Show c.-58+196_-58+197insGTGAAGGATGGAGGAGGGGTGATGAGAGAG GAGTGAGGATGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGA GGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGGGGGAGGGGGTGA AGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGACAGG GGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGGCTGAGGATGGAGGAG GGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGTGAGGACGAGGAGGGG TGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAAGG GGGTGAGGATGAGGGAGGGGGTGACGATGGGGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787350	A A	ACCCCCTC others(358): Show ACCCCCTCCCTCATCCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCC TCACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCA CCCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTC ACTCCCCTCCCTCATCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCAT CCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCT CCCCCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTTC ACCCCCTCCCTCATCCTCACTCCTCTCTCATCACCCCTCCTCCATCCTTC ACCCCCCCATCGTCAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01099.hp2 others(3): Show HG00735.hp2 HG00741.hp2 HG01099.hp2 HG02074.hp2 NA19006.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0039 a0002c0002t0001g0018 a0001c0001t0001g0013 a0001c0001t0001g0039 a0002c0002t0001g0018	6	386	0.0155	365	c.-58 others(380): Show c.-58+182_-58+183insGTGACGATGGGGGGGTGAAGGATGGAGGAG GGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGGTGAAGGATGAGGGAG GGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGAT GGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGT GAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGGC TGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGTG AGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGGG AGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PTPRT_chr20_42067756_43194906	42993447	T T	TATATATA others(358): Show TATATATACACACATATATATACACATATATGTGTGTGTGTATATATATA TACACATATATATGTGTGTGTATATATATATACACATATATATAGTGTGT GTATATATATACATATATTTGTGTATATATATACATATATGTGTGTGTAT ATATATACATATATGTGTGTGTGTATATATACATATGTGTGTGTATATAT ACATATATATGTGTGTGTATATATACACATATATGTGTGTGTATATATAC ATATATGTGTATATATATACACATATATGTATATATACACACACATATAT GTGTATATATACACACACATATATGTGTATATATACACACACATATATGT GTATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0015 a0001c0002 a0002c0001 a0002c0015	a0001c0002t0006 a0002c0001t0011 a0002c0015t0001 a0001c0002t0006 a0002c0001t0011 a0002c0015t0001	a0001c0002t0006g0036 a0002c0001t0011g0019 a0002c0001t0011g0020 others(1): Show a0001c0002t0006g0036 a0002c0001t0011g0019 a0002c0001t0011g0020 a0002c0015t0001g0013	4	62	0.0645	365	c.89- others(384): Show c.89-107516_89-107515insGTGTGTGTATATATACACATATATGT GTGTGTATATATACACATATATGTGTGTGTATATATACACATATATGTGT GTGTATATATACATATATGTGTATATATATACACATATATGTATATATAC ACACACATATATGTGTATATATACACACACATATATATGTATATATACAC ACACATATGTATATATACACACACACATATATGTATATATATACACACAC ATATATGTATATATATACACAAATATATGTATATATATACACACACTATA TATATGTGTATATATATATACACACACATATATATGTGTATATATATATA CACACACACATATATGTGTATATATATGTGTGTATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RARG_chr12_53205569_53237209	53208342	T T	TAAACCTG others(358): Show TAAACCTGCCTGCAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGC CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	365	c.33 others(376): Show c.3333_*3334insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAACTGCAGGCAGGTTT	RARG	ENSG00000172819.17	transcript	ENST00000425354.7	protein_coding		2226		chr12	TogoVar
RBFOX3_chr17_79084345_79616051	79495482	A A	AGGAAGGT others(358): Show AGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCA GAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGG GGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGG GGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGA AGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGG GTGGGGAGGTGGGGGCAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGT GCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGG AGGGGTGCAGAGGGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01071.hp1 others(24): Show HG00423.hp2 HG00558.hp1 HG01071.hp1 HG01175.hp2 HG01884.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02280.hp1 HG02615.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03927.hp2 NA18747.hp2 NA18906.hp2 NA18970.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009	a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0058 others(24): Show a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0002g0131 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0055 a0001c0001t0003g0086 a0001c0001t0004g0090 a0001c0001t0005g0107 a0001c0001t0005g0144 a0001c0001t0007g0001 a0001c0001t0010g0022 a0001c0001t0018g0049 a0001c0001t0024g0149 a0001c0001t0025g0143 a0001c0001t0026g0106 a0001c0002t0001g0044 a0001c0002t0001g0064 a0001c0002t0002g0134 a0001c0002t0004g0091 a0001c0002t0006g0140 a0001c0002t0009g0041	27	154	0.1753	365	c.-31 others(386): Show c.-319-12885_-319-12884insCACCCTCTGCACCCCTCCCCCACC TCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCC CCCACCTTCCCACCCTCTGCACCCCTGCCCCCACCTCCCCACCCTCTGCA CCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCC TCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTC CCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCC ACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCC TCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	ATATATAT others(358): Show ATATATATATATTTAAAAATATATATATTAAAAATATATATATTTAAATA TATATATCTTTAAATATGTATATTTAAATTATATAATTTAAATATATATT AATATACATATTTTAATATATATAATTTAATATATATCTTTAAATATATA TTAATATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTA TATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAGATA TATATATTTAAATATATATATTTTTAATATATATATTTTTAAATATATAT ATATTTATATATATATTTTTATATATATATATTTATATATATATTTTTAA ATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	408	0.0025	365	c.182 others(382): Show c.182-2718_182-2717insTATATATATATTTAAAAATATATATATT AAAAATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAAT TATATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTA ATATATATCTTTAAATATATATTAATATATATTTAAAGATATATATTAAA TTATATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTT AAATATACATATTTAAAGATATATATATTTAAATATATATATTTTTAATA TATATATTTTTAAATATATATATATTTATATATATATTTTTATATATATA TATTTATATATATATTTTTAAATATATATATATATTT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar

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