Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MUC4_chr3_195741771_195816929	195781725	G G	GCTGGTGA others(281): Show GCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGCGGAAGTGT CGGTAACAGGAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTG GTGACATGAAGAGAGGTGGCGTGACGTGTGGATAATGAGGAAGCATTGGT GACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGGAGTGTCGGTGA CAGGTAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACA GGAAGACGGGTGGTGTCACCTGTGGATACTGACGAAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp2 HG00639.hp2	a0032 a0032	a0032c0077 a0032c0077	a0032c0077t0001 a0032c0077t0001	a0032c0077t0001g0095 a0032c0077t0001g0095	1	246	0.0041	288	c.985 others(297): Show c.9854_9855insTGCTTCGTCAGTATCCACAGGTGACACCACCCGTCT TCCTGTCACCAGCCCTTCCTCAGCATCTACAGGTCACACCACCCCTCTAC CTGTCACCGACACTCCCTCAGCATCCACAGGTGACACCACCCCTCTTCCT GTCACCAATGCTTCCTCATTATCCACACGTCACGCCACCTCTCTTCATGT CACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTTCCTGTTA CCGACACTTCCGCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACC AG	p.Asp others(303): Show p.Asp3285_Thr3286insAlaSerSerValSerThrGlyAspThrThr ArgLeuProValThrSerProSerSerAlaSerThrGlyHisThrThrPr oLeuProValThrAspThrProSerAlaSerThrGlyAspThrThrProL euProValThrAsnAlaSerSerLeuSerThrArgHisAlaThrSerLeu HisValThrSerProSerSerAlaSerThrGlyHisAlaThrProLeuPr oValThrAspThrSerAlaAlaSerThrGlyHisAlaThrProLeuProV alThrSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9966/16756	9854/16239	3285/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782557	G G	GGGGTGGC others(281): Show GGGGTGGCGTGTCCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA GGTGGCGTGACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGG TGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTG GTGTCACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGT GTCACCTGTAGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGT CACCTGTGGATAATGAGGAAGCATCGGTGACATGAAGAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03209.hp2 HG03209.hp2	a0088 a0088	a0088c0111 a0088c0111	a0088c0111t0002 a0088c0111t0002	a0088c0111t0002g0010 a0088c0111t0002g0010	1	243	0.0041	288	c.902 others(297): Show c.9022_9023insTTCTTCATGTCACCGATGCTTCCTCATTATCCACAG GTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCTACAGGT GACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTGA CACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGG CCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTCACGCC ACCTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGACACGCCAC CC	p.Ser others(301): Show p.Ser3008delinsPheLeuHisValThrAspAlaSerSerLeuSerTh rGlyAspThrThrProLeuProValThrAspThrSerSerAlaSerThrG lyAspThrThrProLeuProValThrAspThrSerSerValSerThrGly AspThrThrProLeuProValThrAspThrSerSerAlaSerThrGlyGl nAlaThrProLeuProValThrSerThrSerSerAlaSerThrGlyHisA laThrSerLeuProValThrAspThrSerSerValSerThrGlyHisAla ThrPro	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9134/16756	9022/16239	3008/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782735	C C	CAGTGACA others(281): Show CAGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCG GTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGT GACAGGAAGAGGGGTGGTGTCCCCTGTGGATAATGAGGAAGCATCGGTGA CATGAAGAGCGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACA AGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAAG AAGATGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00558.hp1 HG02273.hp1 NA19007.hp2 HG00558.hp1 HG02273.hp1 NA19007.hp2	a0012 a0061 a0012 a0061	a0012c0013 a0061c0045 a0012c0013 a0061c0045	a0012c0013t0001 a0061c0045t0001 a0012c0013t0001 a0061c0045t0001	a0012c0013t0001g0087 a0012c0013t0001g0090 a0061c0045t0001g0078 a0012c0013t0001g0087 a0012c0013t0001g0090 a0061c0045t0001g0078	3	130	0.0231	288	c.884 others(297): Show c.8844_8845insAGCCCTTCCTCAGCATCCACAGGTCACGCCACCCAT CTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCTCTCT TCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCGCTCTTC ATGTCACCGATGCTTCCTCATTATCCACAGGGGACACCACCCCTCTTCCT GTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGT CACCGACACTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCA CT	p.Thr others(303): Show p.Thr2948_Asp2949insSerProSerSerAlaSerThrGlyHisAla ThrHisLeuLeuValThrAspAlaSerSerValSerThrGlyHisAlaTh rSerLeuLeuValThrAspAlaSerSerValSerThrGlyHisAlaThrA laLeuHisValThrAspAlaSerSerLeuSerThrGlyAspThrThrPro LeuProValThrSerProSerSerAlaSerThrGlyAspThrThrProLe uProValThrAspThrSerSerValSerThrGlyHisAlaThrSerLeuP roValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8956/16756	8844/16239	2948/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784276	A A	ACATGAAG others(281): Show ACATGAAGAGGAGTGACGTGACCTGTGGATGCTGAGGAAGTGCTAGTGAC AGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAGTGTCGGTGACAA GAAGAGAGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGA AGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAG ACGGGTGGTGTCACCTGTGGATACTGACGAAGCGTCGGTGACAAGAAGAG GGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18971.hp1 NA18971.hp1	a0107 a0107	a0107c0057 a0107c0057	a0107c0057t0001 a0107c0057t0001	a0107c0057t0001g0086 a0107c0057t0001g0086	1	150	0.0067	288	c.730 others(297): Show c.7303_7304insGCACCGACACTTCCTCAGTATCCACAGGTCACACCA CCCCTCTTCTTGTCACCGACGCTTCGTCAGTATCCACAGGTGACACCACC CGTCTTCCTGTCACCAGCCCTTCCTCAGCATCTACAGGTCACACCACCCC TCTTCATGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCTCTC TTCTTGTCACCGACACTTCCTCAGTATCCACAGGTGACACCACGCCTCTT CCTGTCACTAGCACTTCCTCAGCATCCACAGGTCACGTCACTCCTCTTCA TG	p.Pro others(303): Show p.Pro2434_Val2435insGlyThrAspThrSerSerValSerThrGly HisThrThrProLeuLeuValThrAspAlaSerSerValSerThrGlyAs pThrThrArgLeuProValThrSerProSerSerAlaSerThrGlyHisT hrThrProLeuHisValThrAspThrSerSerAlaSerThrGlyGlnAla ThrSerLeuLeuValThrAspThrSerSerValSerThrGlyAspThrTh rProLeuProValThrSerThrSerSerAlaSerThrGlyHisValThrP roLeuHis	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7415/16756	7303/16239	2435/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784463	T T	TGGTGACA others(281): Show TGGTGACAGGAAGACGGGTGGTGTCACCTGTGGATACTGACGAAGCGTCG GTGACAAGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGT GCCAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGA CAGGAAGAGGGGTGGCATGACCTGTGGATGCCGAGGAAACGTTGGTGACA GGAAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCGGTGACAGG AAGATGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00423.hp1 HG02027.hp1 HG02056.hp2 others(4): Show HG00423.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 NA18959.hp1 NA19004.hp2	a0011 a0025 a0054 others(2): Show a0011 a0025 a0054 a0055 a0056	a0011c0058 a0011c0059 a0025c0069 others(4): Show a0011c0058 a0011c0059 a0025c0069 a0025c0081 a0054c0049 a0055c0070 a0056c0068	a0011c0058t0001 a0011c0059t0001 a0025c0069t0001 others(4): Show a0011c0058t0001 a0011c0059t0001 a0025c0069t0001 a0025c0081t0001 a0054c0049t0001 a0055c0070t0001 a0056c0068t0001	a0011c0058t0001g0080 a0011c0059t0001g0079 a0025c0069t0001g0059 others(4): Show a0011c0058t0001g0080 a0011c0059t0001g0079 a0025c0069t0001g0059 a0025c0081t0001g0127 a0054c0049t0001g0026 a0055c0070t0001g0044 a0056c0068t0001g0125	7	121	0.0579	288	c.711 others(297): Show c.7116_7117insGACACTTCCTCAGCATCCACAGGTCACGCCACCCAT CTTCCTGTCACCGGCCTTTCCTCAGCTTCCACAGGTGACACCACCCGTCT TCCTGTCACCAACGTTTCCTCGGCATCCACAGGTCATGCCACCCCTCTTC CTGTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCT GGCACCGACACTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCTTGT CACCGACGCTTCGTCAGTATCCACAGGTGACACCACCCGTCTTCCTGTCA CC	p.Thr others(303): Show p.Thr2372_Ser2373insAspThrSerSerAlaSerThrGlyHisAla ThrHisLeuProValThrGlyLeuSerSerAlaSerThrGlyAspThrTh rArgLeuProValThrAsnValSerSerAlaSerThrGlyHisAlaThrP roLeuProValThrSerThrSerSerAlaSerThrGlyAspThrThrPro LeuProGlyThrAspThrSerSerValSerThrGlyHisThrThrProLe uLeuValThrAspAlaSerSerValSerThrGlyAspThrThrArgLeuP roValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7228/16756	7116/16239	2372/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195785335	A A	AGAAGAGG others(281): Show AGAAGAGGGGTGGCGTGACCTGTGGATGCCGAGGAAACGTTGGTGACAGG AAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCGGTGACAGGAA GATGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGA GGGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGG GGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGG TGGTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01433.hp2 HG01884.hp2 HG02257.hp1 others(4): Show HG01433.hp2 HG01884.hp2 HG02257.hp1 HG02451.hp1 HG02723.hp1 HG02895.hp1 HG03540.hp2	a0016 a0044 a0059 others(3): Show a0016 a0044 a0059 a0064 a0076 a0078	a0016c0152 a0016c0153 a0044c0147 others(4): Show a0016c0152 a0016c0153 a0044c0147 a0059c0148 a0064c0119 a0076c0154 a0078c0146	a0016c0152t0004 a0016c0153t0005 a0044c0147t0003 others(4): Show a0016c0152t0004 a0016c0153t0005 a0044c0147t0003 a0059c0148t0012 a0064c0119t0008 a0076c0154t0003 a0078c0146t0004	a0016c0152t0004g0241 a0016c0153t0005g0242 a0044c0147t0003g0208 others(4): Show a0016c0152t0004g0241 a0016c0153t0005g0242 a0044c0147t0003g0208 a0059c0148t0012g0236 a0064c0119t0008g0196 a0076c0154t0003g0206 a0078c0146t0004g0235	7	219	0.0320	288	c.624 others(297): Show c.6244_6245insATGTCACCGACGCTTCCTCAGTATCCACAGGTGACA CCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCTCAGGTCACACC ACCCCTCTTCCTGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCAC CCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCC ATCTTCCTGTCACCGGCCTTTCCTCAGCTTCCACAGGTGACACCACCCGT CTTCCTGTCACCAACGTTTCCTCGGCATCCACAGGTCACGCCACCCCTCT TC	p.Leu others(303): Show p.Leu2081_Leu2082insHisValThrAspAlaSerSerValSerThr GlyAspThrThrProLeuProValThrSerProSerSerAlaSerSerGl yHisThrThrProLeuProValThrAspAlaSerSerAlaSerThrGlyA spThrThrProLeuProValThrAspThrSerSerAlaSerThrGlyHis AlaThrHisLeuProValThrGlyLeuSerSerAlaSerThrGlyAspTh rThrArgLeuProValThrAsnValSerSerAlaSerThrGlyHisAlaT hrProLeu	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6356/16756	6244/16239	2082/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195785623	G G	GGAAGAGA others(281): Show GGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGG AAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGGAA GAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGA GAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGAGG GGTGGTGTCACCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGGGG TGGTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp2 HG02145.hp2	a0058 a0058	a0058c0162 a0058c0162	a0058c0162t0009 a0058c0162t0009	a0058c0162t0009g0237 a0058c0162t0009g0237	1	247	0.0040	288	c.595 others(297): Show c.5956_5957insTTGTCACCGACGCTTCCTCAGTATCCACAGGTGACA CCACCCCTCTTCCTGTCACCGACACTAACTCAGCATCCACAGGTGACACC ACCCCTCTTCATGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCAC CTCTCTTCCTGTCACCAGCCTTTCCTCAGCATCCACAGGTGACACCACGC CTCTTCCTGTCACTAGCCCTTCCTCAGCATCCTCAGGTCACACCACCCCT CTTCCTGTCACCGACGCTTCCTCAGTACCCACAGGTCACGCCACCTCTCT TC	p.Leu others(303): Show p.Leu1985_Pro1986insLeuValThrAspAlaSerSerValSerThr GlyAspThrThrProLeuProValThrAspThrAsnSerAlaSerThrGl yAspThrThrProLeuHisValThrAspAlaSerSerValSerThrGlyH isAlaThrSerLeuProValThrSerLeuSerSerAlaSerThrGlyAsp ThrThrProLeuProValThrSerProSerSerAlaSerSerGlyHisTh rThrProLeuProValThrAspAlaSerSerValProThrGlyHisAlaT hrSerLeu	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6068/16756	5956/16239	1986/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195786116	T T	TGTGACCT others(281): Show TGTGACCTGTAGATGCTGAGGAAGTGCTGGTGACAGGAACAGGGGTGGCG TGACCGGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTG ACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCAC CTGTGGATACTGAGGAAGTGTTGGTGACAGGAAGAGGGGTGGCCTGACCT GTGGATGCCGAGGAAATGTCGGTGACAGGAAGACGGGTGGTGTCACCTGT GGAAGCTGAGGAAAGGCCGGTGACAGGAAGAGGGGTGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG02895.hp2 HG03688.hp2 others(2): Show HG00099.hp1 HG02895.hp2 HG03688.hp2 HG03942.hp2 HG04199.hp2	a0022 a0026 a0079 others(1): Show a0022 a0026 a0079 a0099	a0022c0020 a0026c0048 a0079c0133 others(1): Show a0022c0020 a0026c0048 a0079c0133 a0099c0132	a0022c0020t0001 a0026c0048t0001 a0079c0133t0001 others(1): Show a0022c0020t0001 a0026c0048t0001 a0079c0133t0001 a0099c0132t0001	a0022c0020t0001g0028 a0022c0020t0001g0093 a0026c0048t0001g0096 others(2): Show a0022c0020t0001g0028 a0022c0020t0001g0093 a0026c0048t0001g0096 a0079c0133t0001g0016 a0099c0132t0001g0032	5	246	0.0203	288	c.546 others(297): Show c.5463_5464insGCCACCCCTCTTCCTGTCACCGGCCTTTCCTCAGCT TCCACAGGTGACACCACCCGTCTTCCTGTCACCGACATTTCCTCGGCATC CACAGGTCAGGCCACCCCTCTTCCTGTCACCAACACTTCCTCAGTATCCA CAGGTGACACCATGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACA GGTCACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACCGG TCACGCCACCCCTGTTCCTGTCACCAGCACTTCCTCAGCATCTACAGGTC AC	p.Asp others(303): Show p.Asp1821_Thr1822insAlaThrProLeuProValThrGlyLeuSer SerAlaSerThrGlyAspThrThrArgLeuProValThrAspIleSerSe rAlaSerThrGlyGlnAlaThrProLeuProValThrAsnThrSerSerV alSerThrGlyAspThrMetProLeuProValThrSerProSerSerAla SerThrGlyHisAlaThrProLeuProValThrSerThrSerSerAlaSe rThrGlyHisAlaThrProValProValThrSerThrSerSerAlaSerT hrGlyHis	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	5575/16756	5463/16239	1821/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195786715	G G	GGGCTGGT others(281): Show GGGCTGGTGACAGGAAGAGGGGTGGTGTCACCTTTGGATGCTGAGGAAGT GTCGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGC TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG GTGACAGGAAGAGGAGTGGCCTGACCTGTGGATGCCGAGGAAACGTCGGT GACAGGAAGACGGGTGGTGTCATCTGTGGTAGCTGAGGAAAGGCCGGTGA CAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp2 HG02258.hp2	a0060 a0060	a0060c0160 a0060c0160	a0060c0160t0009 a0060c0160t0009	a0060c0160t0009g0222 a0060c0160t0009g0222	1	248	0.0040	288	c.486 others(297): Show c.4864_4865insATTCCTCAGTATCCACAGGTCACGCCACCCCTCTTC CTGTCACCGGCCTTTCCTCAGCTACCACAGATGACACCACCCGTCTTCCT GTCACCGACGTTTCCTCGGCATCCACAGGTCAGGCCACTCCTCTTCCTGT CACCAGCCTTTCCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCA CTAGCCCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCTTGTCACC GACACTTCCTCAGCATCCAAAGGTGACACCACCCCTCTTCCTGTCACCAG CC	p.Thr others(301): Show p.Thr1622delinsAsnSerSerValSerThrGlyHisAlaThrProLe uProValThrGlyLeuSerSerAlaThrThrAspAspThrThrArgLeuP roValThrAspValSerSerAlaSerThrGlyGlnAlaThrProLeuPro ValThrSerLeuSerSerValSerThrGlyAspThrThrProLeuProVa lThrSerProSerSerAlaSerThrGlyHisAlaThrProLeuLeuValT hrAspThrSerSerAlaSerLysGlyAspThrThrProLeuProValThr SerPro	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4976/16756	4864/16239	1622/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195787031	G G	GACCTGTG others(281): Show GACCTGTGGATTCTGAGGAAGTGTCGGTGACAGGAAGAGGGTTGGTGTGA CCTGTGGATGCCGAGGAAGCGTAGGTGACAGGAAGAGGGGTGACGTGACC TGTGGATTCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTG TGGATACTGAGGAAGCATCGGTGACATGAAGAGGGGTGGTGTCACCTGTG GATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGA TACTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02976.hp2 HG02976.hp2	a0081 a0081	a0081c0158 a0081c0158	a0081c0158t0009 a0081c0158t0009	a0081c0158t0009g0244 a0081c0158t0009g0244	1	238	0.0042	288	c.454 others(297): Show c.4548_4549insGACACCACCCCTCTTCATGTCACCGACGCTTCCTCA GTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGC ATCCACAGGTGACACCACCCCTCTTCATGTCACCGATGCTTCCTCAGTAT CCACAGGTCACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGAATCC ACAGGTCACGTCACCCCTCTTCCTGTCACCTACGCTTCCTCGGCATCCAC AGGTCACACCAACCCTCTTCCTGTCACCGACACTTCCTCAGAATCCACAG GT	p.Gly others(303): Show p.Gly1516_His1517insAspThrThrProLeuHisValThrAspAla SerSerValSerThrGlyHisAlaThrProLeuProValThrSerThrSe rSerAlaSerThrGlyAspThrThrProLeuHisValThrAspAlaSerS erValSerThrGlyHisThrThrProLeuProValThrAspThrSerSer GluSerThrGlyHisValThrProLeuProValThrTyrAlaSerSerAl aSerThrGlyHisThrAsnProLeuProValThrAspThrSerSerGluS erThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4660/16756	4548/16239	1516/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195787521	T T	TGCTGAGG others(281): Show TGCTGAGGAAGTGCTGGTGAGAGGAAGAGGGGTGGCCTGACCTGTGGATG CTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTAGATGCT GAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGA GGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATAATGAGG AAGCATCGGTGACATGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAA GGGCTAGTGACAGGAAGAGGGGTGGTGTCATCTGTGGAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02717.hp1 HG02717.hp1	a0074 a0074	a0074c0137 a0074c0137	a0074c0137t0005 a0074c0137t0005	a0074c0137t0005g0227 a0074c0137t0005g0227	1	246	0.0041	288	c.405 others(297): Show c.4058_4059insGTCCACAGATGACACCACCCCTCTTCCTGTCACTAG CCCTTCCTCAGCATCCACAGGTCACGCCACCCTTCTTCATGTCACCGATG CTTCCTCATTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACT TCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTC CTCAGCATCTACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCT CAGCATCCACAGGTCAGGCCACCCCTCTTCCTCTCACCAGCACTTCCTCA GC	p.Val others(303): Show p.Val1353_Ser1354insSerThrAspAspThrThrProLeuProVal ThrSerProSerSerAlaSerThrGlyHisAlaThrLeuLeuHisValTh rAspAlaSerSerLeuSerThrGlyAspThrThrProLeuProValThrA spThrSerSerAlaSerThrGlyAspThrThrProLeuProValThrAsp AlaSerSerAlaSerThrGlyAspThrThrProLeuProValThrAspTh rSerSerAlaSerThrGlyGlnAlaThrProLeuProLeuThrSerThrS erSerAla	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4170/16756	4058/16239	1353/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195787810	G G	GCTGAGGA others(281): Show GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATAC TGAGGAACTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTG AGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAG GAAAGGCTGGTGACAGGAAGAGGGGTGACGTGACCTGTGGATTCTGAGGA AGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTGAGGAAA GGCTGGTGACAGGAAGAGGGGTGACGTGACCTGTGGATT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp1 HG02717.hp1	a0074 a0074	a0074c0137 a0074c0137	a0074c0137t0005 a0074c0137t0005	a0074c0137t0005g0227 a0074c0137t0005g0227	1	248	0.0040	288	c.376 others(297): Show c.3769_3770insAATCCACAGGTCACGTCACCCCTCTTCCTGTCACCA GCCTTTCCTCAGCATCCACAGGTCACACCACCCCTCTTCCTGTCACCGAC ACTTCCTCAGAATCCACAGGTCACGTCACCCCTCTTCCTGTCACCAGCCT TTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTT CCTCAGCATCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACAGTTCC TCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACCGACACTTCCTC AG	p.Ser others(303): Show p.Ser1256_Ala1257insGluSerThrGlyHisValThrProLeuPro ValThrSerLeuSerSerAlaSerThrGlyHisThrThrProLeuProVa lThrAspThrSerSerGluSerThrGlyHisValThrProLeuProValT hrSerLeuSerSerValSerThrGlyAspThrThrProLeuProValThr AspThrSerSerAlaSerThrGlyHisAlaThrSerLeuProValThrAs pSerSerSerValSerThrGlyHisThrThrProLeuProValThrAspT hrSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3881/16756	3769/16239	1257/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788371	A A	ACGTGACC others(281): Show ACGTGACCTGTGGATTCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGT GTGACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGACGT GACCTGTGGATTCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGA CCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCGTGACC TGTGGATACTGAGGAAGCATCGGTGACATGAAGAGGGGTGGTGTGACCTG TGGATGCCGAGGAAGCGTAGGTGACAGGAAGAGGGGTGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03579.hp1 NA18906.hp2 HG03579.hp1 NA18906.hp2	a0093 a0102 a0093 a0102	a0093c0031 a0102c0136 a0093c0031 a0102c0136	a0093c0031t0005 a0102c0136t0005 a0093c0031t0005 a0102c0136t0005	a0093c0031t0005g0230 a0102c0136t0005g0240 a0093c0031t0005g0230 a0102c0136t0005g0240	2	237	0.0084	288	c.320 others(297): Show c.3208_3209insCCACCCCTCTTCCTGTCACCTACGCTTCCTCGGCAT CCACAGGTCACACCACCCCTCTTCATGTCACCGATGCTTCCTCAGTATCC ACAGGTCACGCCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGTATCCAC AGGTCACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGAATCCACAG GTCACGTCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATCCACAGGT CACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGAATCCACAGGTCA CG	p.His others(303): Show p.His1069_Val1070insAlaThrProLeuProValThrTyrAlaSer SerAlaSerThrGlyHisThrThrProLeuHisValThrAspAlaSerSe rValSerThrGlyHisAlaThrProLeuProValThrSerProSerSerV alSerThrGlyHisThrThrProLeuProValThrAspThrSerSerGlu SerThrGlyHisValThrProLeuProValThrSerLeuSerSerAlaSe rThrGlyHisThrThrProLeuProValThrAspThrSerSerGluSerT hrGlyHis	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3320/16756	3208/16239	1070/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788482	T T	TCTGAGGA others(281): Show TCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATAC TGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTG AGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAG GAAGGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGA AGCATCGGTGACATGAAGAGGGGTGGTGTGACCTGTGGATGCCGAGGAAG CGTAGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02976.hp2 HG02976.hp2	a0081 a0081	a0081c0158 a0081c0158	a0081c0158t0009 a0081c0158t0009	a0081c0158t0009g0244 a0081c0158t0009g0244	1	244	0.0041	288	c.309 others(297): Show c.3097_3098insCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCT ACGCTTCCTCGGCATCCACAGGTCACACCACCCCTCTTCATGTCACCGAT GCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCCC TTCCTCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACCGACACTT CCTCAGCATCCACAGGTCACACCACCCCTCTTCCTGTCACCGACACTTCC TCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACCGACACTTCCTC AG	p.Ser others(303): Show p.Ser1032_Glu1033insAlaSerThrGlyHisAlaThrProLeuPro ValThrTyrAlaSerSerAlaSerThrGlyHisThrThrProLeuHisVa lThrAspAlaSerSerAlaSerThrGlyHisAlaThrProLeuProValT hrSerProSerSerValSerThrGlyHisThrThrProLeuProValThr AspThrSerSerAlaSerThrGlyHisThrThrProLeuProValThrAs pThrSerSerValSerThrGlyHisThrThrProLeuProValThrAspT hrSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3209/16756	3097/16239	1033/5412			chr3	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(281): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATAATATATATTA TATAAAATATATATTATATTATATAATATATATTTTATAAAATATATATT ATATTATATAATATATATTTTATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02300.hp2 HG01433.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	118	0.0169	288	c.51 others(299): Show c.5159_*5160insATATAATATATATTTTATAAAATATATATTATAT AATATAATATATATTTTATAAAATATATATTATATAATATAATATATATT TTATATAATATATATTATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT ATAATATATATTATATATAATATAATATATATTATATATAATATATATTA TATA		MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding					4927		chr12	TogoVar
NAP1L5_chr4_88690913_88702829	88698989	T T	TTTCCTCA others(281): Show TTTCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTCT TCCTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTCTTC CTCACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTCTTCCT CACGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTCTTCCTCA CGCTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTCTTCCTCACG CTCCTCACCCTCTTCTTCCTCACCCTCTTCACCCTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	244	0.0041	288	c.-12 others(299): Show c.-1236_-1235insGAAGAGGGTGAAGAGGGTGAGGAAGAAGAGGGTG AGGAGCGTGAGGAAGAAGAGGGTGAAGAGGGTGAGGAAGAAGAGGGTGAG GAGCGTGAGGAAGAAGAGGGTGAAGAGGGTGAGGAAGAAGAGGGTGAGGA GCGTGAGGAAGAAGAGGGTGAAGAGGGTGAGGAAGAAGAGGGTGAGGAGC GTGAGGAAGAAGAGGGTGAAGAGGGTGAGGAAGAAGAGGGTGAGGAGCGT GAGGAAGAAGAGGGTGAAGAGGGTGAGGAAGAAGAGGGTGAGGAGCGTGA GGAA		NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding					1161		chr4	TogoVar
NAP1L5_chr4_88690913_88702829	88699285	T T	TTCCCCAC others(281): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCCACTCATCGAC CCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCA CCCACCCACCCCTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCC TATTCCTCCCCACCCACCCACCCAGCCCCACCCTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	299	0.0033	288	c.-15 others(299): Show c.-1532_-1531insGGAAGAGGGTGGGGCTGGGTGGGTGGGTGGGGAG GAATAGGGTGGGGCTGGGTGGGTGGGTGGAGAAGAAGCGGGTAGGGGTGG GTGGGTGGGGAAGAGGGTAGGGGTGGGTCGGTGGGGAAGAAGAGGGTGGA GCTGGGTCGATGAGTGGGGTGGGGCTGGGTGGGTGGGTGGAGAAGAAGCG GGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGGGTGGGTCGGTGGGGAAG AAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGGGGCTGGGTGGGTGGGTG GGGA		NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding					1457		chr4	TogoVar
NCAPG2_chr7_158626169_158709804	158667579	C C	CCTTACCG others(281): Show CCTTACCGACCCTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	252	0.0040	288	c.148 others(307): Show c.1480-2830_1480-2829insCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGGGTCGGTAAG		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NDUFC1_chr4_139284931_139307477	139289140	A A	AAAAAAAA others(281): Show AAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGC CACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	374	0.0027	288	c.97 others(297): Show c.972_*973insGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCA GTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC TCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTT TT		NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding					790		chr4	TogoVar
NFATC1_chr18_79390930_79534323	79494279	C C	CGCCGGGG others(281): Show CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCC GGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACGGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGA AGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02922.hp2 HG03516.hp1 HG02293.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0013 a0001c0005 a0001c0013	a0001c0005t0005 a0001c0013t0005 a0001c0005t0005 a0001c0013t0005	a0001c0005t0005g0056 a0001c0005t0005g0111 a0001c0013t0005g0114 a0001c0005t0005g0056 a0001c0005t0005g0111 a0001c0013t0005g0114	3	148	0.0203	288	c.278 others(307): Show c.2782+7426_2782+7427insGAACCTGGTGCGGCCGGGGGAAGGCG AGAACGGGCACACGCCCCCCATCAACCTGGTACGGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCG GGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGG CACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCAT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8656420	C C	CTTCTCTC others(281): Show CTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCC CCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTACA GCCCACCTTGTGCACAAAGCCAGTGTTCTCCCTGCAGCCCACCTTCTCCC AGAAACCCTCCTGCCTTCTCCACGCAGCCCATCTTCTCTCTGAAGCCCAC CTCCTCCCGCAGCCCACCTCCTCCCTGAAGCCCACCTCCTCCCACAGCCC ACCTCCTCCCTGAAGCCCACCTCCTCCCTGAAGCCCCCT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0050 a0001c0001t0044g0050	1	322	0.0031	288	c.-16 others(309): Show c.-163-18130_-163-18129insTCTCTCTGAAGCCCACCTCCTCCC GCAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTC CCTGAAGCCCACCTTCTCCCTACAGCCCACCTTGTGCACAAAGCCAGTGT TCTCCCTGCAGCCCACCTTCTCCCAGAAACCCTCCTGCCTTCTCCACGCA GCCCATCTTCTCTCTGAAGCCCACCTCCTCCCGCAGCCCACCTCCTCCCT GAAGCCCACCTCCTCCCACAGCCCACCTCCTCCCTGAAGCCCACCTCCTC CCTGAAGCCCCCTT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678159	A A	ATCCATCC others(281): Show ATCCATCCATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCAT CCATCCACCTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCATCCATC CGTCCGTCCGTCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCA TCCATTCAGCCATCCATCCATCCATCCATTCCATCCATCCATCCATCCAT TCTTCCATCCATCCATTCATTAGTTTATCCATCCCCATCCATCCATCCAT CCATCCATCCATCCATCCCTCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0153 a0001c0001t0105g0153	1	357	0.0028	288	c.55 others(297): Show c.555_*556insATCCATTTGTCCATCCATCCATCCACCTATCCATCC ATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCA TCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATC CATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTC ATTAGTTTATCCATCCCCATCCATCCATCCATCCATCCATCCATCCATCC CTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CC		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6				556	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678159	A A	ATCCATCC others(281): Show ATCCATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCAT CCACCTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTC CGTCCGTCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCA TTCAGCCATCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCTT CCATCCATCCATTCATTAGTTTATCCATCCCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02630.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0109 a0001c0001t0108 a0001c0001t0109	a0001c0001t0108g0011 a0001c0001t0109g0096 a0001c0001t0108g0011 a0001c0001t0109g0096	2	358	0.0056	288	c.55 others(297): Show c.555_*556insATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCATCCATCCATCCATCCATCCATCCATCC CTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CC		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6				556	INFO_REALIGN_3_PRIME	chr19	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(281): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01943.hp1 NA18747.hp1 others(2): Show HG00544.hp1 HG01943.hp1 NA18747.hp1 NA18953.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0030	5	161	0.0311	288	c.91+ others(301): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132149045	A A	ACTCACAC others(281): Show ACTCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0001 a0006c0034t0001	a0006c0034t0001g0071 a0006c0034t0001g0071	1	185	0.0054	288	c.901 others(303): Show c.901+158_901+159insCCTAATCCCCTCGGTGAGTGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCG CTCACACC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NPDC1_chr9_137034463_137051177	137050236	G G	GTCCCTAC others(281): Show GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGC CTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00609.hp1 others(61): Show HG00099.hp1 HG00408.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG02486.hp2 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18942.hp2 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18986.hp1 NA18989.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19077.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0013 a0004c0017 a0001c0001 a0001c0013 a0004c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0013t0001 a0004c0017t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0075 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0122 a0001c0001t0005g0028 a0001c0001t0007g0090 a0001c0013t0001g0089 a0004c0017t0002g0096	64	351	0.1823	288	c.-42 others(299): Show c.-4248_-4247insTAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAG GGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGA		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					4060		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050236	G G	GTCCCTAC others(281): Show GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCGCCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGC CTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	288	0.0035	288	c.-42 others(299): Show c.-4248_-4247insTAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAG GGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGCGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGA		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					4060		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050236	G G	GTCCCTAC others(281): Show GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTT ACCCTCGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGC CTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02040.hp2 HG02083.hp2 others(6): Show HG00621.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 NA18940.hp2 NA18947.hp1 NA18986.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0088 a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0088	9	296	0.0304	288	c.-42 others(299): Show c.-4248_-4247insTAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAG GGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG AGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGA		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					4060		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050236	G G	GTCCCTAC others(281): Show GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGA CAAAGTTCCCAGCCACCCGCGTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGC CTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	288	0.0035	288	c.-42 others(299): Show c.-4248_-4247insTAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAG GGCAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACACGCGGGTGGCTGGGAA CTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGA		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					4060		chr9	TogoVar
NPDC1_chr9_137034463_137051177	137050266	C C	CCGCCTGC others(281): Show CCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTAC CCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTC CCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGA CAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCC ACCCGCCTATCCCTACCCACGACAAAGTTCCCAGCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	400	0.0025	288	c.-42 others(299): Show c.-4278_-4277insTGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTG GCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCA GGCG		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					4090		chr9	TogoVar
NR0B1_chrX_30299206_30314390	30310831	T T	TTCCTTCC others(281): Show TTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	265	0.0038	288	c.-14 others(299): Show c.-1469_-1468insGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGA AGGA		NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding					1442		chrX	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(281): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0004 a0001c0001t0001 a0003c0003t0004	a0001c0001t0001g0113 a0003c0003t0004g0216 a0001c0001t0001g0113 a0003c0003t0004g0216	2	314	0.0064	288	c.-30 others(299): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTTTA AATG		NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding					2982		chr8	TogoVar
NUP93_chr16_56725129_56855286	56808381	T T	TATATAGT others(281): Show TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATAGT TATATAACTATATAAAATATAGTTATATAACTATATAAAATATATAGTTA TATAACTATATAAAATATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	342	0.0029	288	c.489 others(305): Show c.489+2759_489+2760insATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATAGTTATATAACTATA TAAAATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAA ATATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAA ATATAGTTAT		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3198019	A A	AGGAGAGG others(281): Show AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG00738.hp2 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0147 a0001c0001t0002g0080 a0001c0001t0002g0147	2	226	0.0088	288	c.-12 others(305): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(281): Show CTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCT TTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTT CTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTG CTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCT TTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02027.hp2 HG01070.hp1 HG01071.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0016 a0001c0003t0011g0153 a0001c0003t0011g0016 a0001c0003t0011g0153	3	321	0.0093	288	c.487 others(305): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTGCTTTCTTG CTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCT TGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTG CTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCT TTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TTCTTGTTTT		OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(281): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCT TTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTG CTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTGCT TTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTG CTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCT TTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0346 a0001c0003t0026g0346	1	319	0.0031	288	c.487 others(305): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCT TTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTT CTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCT TTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TTCTTGTTTT		OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(281): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCT TTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTT CTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTG CTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCT TTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTGT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0037 a0001c0003t0003g0037	1	319	0.0031	288	c.487 others(305): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTG CTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCT TGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTG CTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCT TTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TTCTTGTTTT		OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOG_chr11_17542259_17651044	17552528	C C	CTCCCCCA others(281): Show CTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTC CTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACC TGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCC CACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGT CCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCT GTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0006 a0006	a0006c0142 a0006c0142	a0006c0142t0001 a0006c0142t0001	a0006c0142t0001g0120 a0006c0142t0001g0120	1	241	0.0041	288	c.293 others(303): Show c.293-515_293-514insTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552531	C C	CCCCACCT others(281): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0048 a0048	a0048c0038 a0048c0038	a0048c0038t0001 a0048c0038t0001	a0048c0038t0001g0005 a0048c0038t0001g0005	1	240	0.0042	288	c.292 others(303): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
PAK1_chr11_77317017_77479094	77332356	A A	AGGGAAGG others(281): Show AGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGCGGGAGGG GAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0287 a0001c0001t0003g0287	1	246	0.0041	288	c.155 others(305): Show c.1551+373_1551+374insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCGCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(281): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	321	0.0031	288	c.-26 others(299): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATC		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2214		chr20	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(281): Show TTCCCTCCCCTCTCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTGCCCTCCCCCCTCCCTTCCCCTGCCCTCCCCCTCCCCCTC CCCTCCCCACTTCCCCTCCCCCTCCCCTGCCCTCCTCCTCCCCCTCCCTC ATCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	7	0.1429	288	c.-37 others(299): Show c.-3700_-3699insGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAG GGGATGAGGGAGGGGGAGGAGGAGGGCAGGGGAGGGGGAGGGGAAGTGGG GAGGGGAGGGGGAGGGGGAGGGCAGGGGAAGGGAGGGGGGAGGGCAGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGAGAGGGGA GGGA		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding					3663		chr15	TogoVar
PDCD6_chr5_266646_319974	318084	T T	TCTCCCCC others(281): Show TCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCT TACCCTGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCC CAACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCATCCTTTACCTCCCCCCATCTTTTACCTCCCCCCACCCT CCATCTCCCCCCAACCCTGCACCTCCCCCAATCCTTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	92	0.0109	288	c.35 others(299): Show c.3569_*3570insCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCC TGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCC ACCCTCCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCATCTTTT ACCTCCCCCCACCCTCCATCTCCCCCCAACCCTGCACCTCCCCCAATCCT TCAC		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding					3111		chr5	TogoVar
PDE6B_chr4_620573_675782	660995	G G	GGGTGGGT others(281): Show GGGTGGGTGGGCCAATGGTAGTTGGATAGTTGGATAAATGGATGGATGGG TGGGTGGGCCATGGTAGTTGGATGGTTGGATAAATTGATGGATGGGTGGG TGGGCGGGCCAATGGTAGTTGGATGGTTGGATAAATGGATGGATGGGTGG GTGGGCCAATGGTAGTTGGATGGTTGGATAAATGGATGGATGGGTGGGTG GGCCAATGGTAGTTGGATGGTTGGATAAATTGATGGATGGGTGGGTGGGT GGGCCAATGGTAGTTGGATGGTTGGATAAATGGATGGGT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	306	0.0033	288	c.161 others(305): Show c.1614+388_1614+389insTGGGCCAATGGTAGTTGGATAGTTGGAT AAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGATAAAT TGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGGATAAA TGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAATGG ATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAATTGATG GATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAATGGAT GGGTGGTGGG		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE8B_chr5_77205680_77433256	77254224	T T	TAGAAATT others(281): Show TAGAAATTGAGAGGTGTCCGCATATTCTCACTCATAGGTGGGAATTGAAC AATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGT GGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACTAATGC TAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	311	0.0032	288	c.339 others(307): Show c.339+42977_339+42978insCGCATATTCTCACTCATAGGTGGGAA TTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATAC TAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGT ATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAG AGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA TTGAGAGGTGTC		PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
PGAP6_chr16_365788_386978	378181	C C	CCCACCCG others(281): Show CCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGC CATCGCCACCCTGACTGCCATCGCCACCCGCACTGCCATCGCCACCCGCA CTGCCATCGCCACCCGCACTGCCATCCCCACCCGCACTGACATCGCCACC CGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGC CACTCTGACTGCCATCGCCACCCTGACTGCCATCGCCACCCGCACTGCCA TCCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0146 a0002c0002t0003g0146	1	320	0.0031	288	c.122 others(303): Show c.122-334_122-333insCGATGGCAGTGCGGGTGGCGATGGCAGTGC GGGTGGGGATGGCAGTGCGGGTGGCGATGGCAGTCAGGGTGGCGATGGCA GTCAGAGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGAT GGCAGTGCGGGTGGCGATGTCAGTGCGGGTGGGGATGGCAGTGCGGGTGG CGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTCAGG GTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGT GCGGGTGG		PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12						chr16	TogoVar
PGAP6_chr16_365788_386978	378243	C C	CACTGCCA others(281): Show CACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCA CCCGCACTGCCATCCCCACCCGCACTGCCATCCCCACCCACACTGCCATC GCCACCCGCACTGCCATCCCCACCCGCACTGCCATCGCCACCCTGACTGC CATCGCCACCCTGACTGCCATCGCCACCCGCACTGACATCGCCACCCGCA CTGCCATCGCTACCCGCACTGCCATCGCCACTCTGACTGCCATCCCCACC CGCACTGCCATCCCCACCCGCACTGCCATCGCCACTCTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02976.hp2 HG03225.hp2 others(2): Show HG02257.hp2 HG02976.hp2 HG03225.hp2 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0015 a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0015 a0001c0004t0001g0050 a0001c0004t0001g0051	5	317	0.0158	288	c.122 others(303): Show c.122-396_122-395insCAGAGTGGCGATGGCAGTGCGGGTGGGGAT GGCAGTGCGGGTGGGGATGGCAGTCAGAGTGGCGATGGCAGTGCGGGTAG CGATGGCAGTGCGGGTGGCGATGTCAGTGCGGGTGGCGATGGCAGTCAGG GTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGT GCGGGTGGCGATGGCAGTGTGGGTGGGGATGGCAGTGCGGGTGGGGATGG CAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGG ATGGCAGT		PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12						chr16	TogoVar
PGC_chr6_41731711_41752397	41738240	A A	ATATATAT others(281): Show ATATATATATGCATATATATATGCATATATATATACATATATATATGCAT ATATATATGCATATATATACGCATATATATATGCATATATATATACATAT ATATGCATATATATACGTATATATATGCATATATATATACGTATATATAT GCATATATATATACGTATATATATATGCATATATATATACGTATATATAT GCATATATATATACGTATATATATGCATATATATATACGTATATATATGC ATATATATATACGTATATATATATGCATATATATATACG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	461	0.0022	288	c.916 others(303): Show c.916-413_916-412insCGTATATATATATGCATATATATATACGTA TATATATATGCATATATATACGTATATATATATGCATATATATACGTATA TATATATGCATATATATACGTATATATATATGCATATATATATACGTATA TATATATGCATATATATACGTATATATATATGCATATATATACGTATATA TATGCATATATATGTATATATATATGCATATATATATGCGTATATATATG CATATATATATGCATATATATATGTATATATATATGCATATATATATGCA TATATATA		PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8						chr6	TogoVar
PKP3_chr11_389209_409908	398294	C C	CTACCCCC others(281): Show CTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACA CCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCTGTACCCC CGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCT GTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03540.hp2 NA19240.hp2 HG03471.hp2 HG03540.hp2 NA19240.hp2	a0003 a0016 a0003 a0016	a0003c0014 a0003c0019 a0016c0035 a0003c0014 a0003c0019 a0016c0035	a0003c0014t0001 a0003c0019t0001 a0016c0035t0001 a0003c0014t0001 a0003c0019t0001 a0016c0035t0001	a0003c0014t0001g0182 a0003c0019t0001g0181 a0016c0035t0001g0180 a0003c0014t0001g0182 a0003c0019t0001g0181 a0016c0035t0001g0180	3	204	0.0147	288	c.106 others(305): Show c.1068+639_1068+640insACATATACCTCATCACCTCCGTACCCCC GCACACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCG TACACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCTGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCT CCGTACCCCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB4_chr20_9064087_9485808	9188883	T T	GTGTTCAT others(281): Show GTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAAGT GTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAACTGT TCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAAGTGTTC ATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAAGTGTTCAT TGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCATTG TGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	61	0.0164	288	c.-78 others(302): Show c.-78-28507delTinsGTGTTCATTGTGGAGGGCTGTCATACAGTGAC ATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATACAGTGACAT TCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTC TGGGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATATAGTGACATTCTG GGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGG TTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTT GGTTAAC		PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39						chr20	TogoVar

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