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
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(392): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCACCCTC CCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCC TCCCCTCCCCCTTCCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCC CTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTC CCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCC TCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0025 a0001c0001t0034g0025	1	30	0.0333	399	c.433 others(416): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGG AGGGGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGG GGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAG GGGAGGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGAA GGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGG AGGGGAGGGGAAGGGGAGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUB1_chr7_151336812_151383449	151344739	C C	CGCCTGTA others(392): Show CGCCTGTAATCCCAGCGTTTTGAGACCAAGGTGGGTGGATCACTTGAGGT CAGGAATTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTA AAAATATGAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCG TTTTGAGACCAAGGTGGGTGGATCACTTGAGGTCAGGAATTCGAGACCAG CCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATATGAAAATTAGC TGGGCGTGGTGGTGCATGCCTGTAATCCCAGCGTTTTGAGACCAAGGTGG GTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCGA AACCCCGTCTCTACTAAAAATATGAAAATTAGCTGGGCGTGGTGGTGCAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	409	0.0024	399	c.-2- others(412): Show c.-2-493_-2-492insTGGGCGTGGTGGTGCATGCCTGTAATCCCAGC GTTTTGAGACCAAGGTGGGTGGATCACTTGAGGTCAGGAATTCGAGACCA GCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATATGAAAATTAG CTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCGTTTTGAGACCAAGGTG GGTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCG AAACCCCGTCTCTACTAAAAATATGAAAATTAGCTGGGCGTGGTGGTGCA TGCCTGTAATCCCAGCGTTTTGAGACCAAGGTGGGTGGATCACTTGAGGT CAGGAATTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTA AAAATATGAAAATTAGC	NUB1	ENSG00000013374.17	transcript	ENST00000568733.6	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP93_chr16_56725129_56855286	56808501	A A	AAATATAT others(392): Show AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATA AAATATATAGTTATGTAACTATATAAATATATAGTTATGTAACTATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18945.hp1 HG02056.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0266 a0001c0003t0002g0289 a0001c0003t0002g0266 a0001c0003t0002g0289	2	329	0.0061	399	c.489 others(416): Show c.489+2870_489+2871insATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAATAT ATAGTTATGTAACTATATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	948880	C C	CCCTGCCT others(392): Show CCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCG GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	231	0.0043	399	c.360 others(418): Show c.360+30438_360+30439insCGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAG GGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC CGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CCGGGGGGAGAGGAGGAGGCAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODF3L2_chr19_458361_479983	479593	C C	CGGGGTTT others(392): Show CGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGA TCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACC GTGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGGTTTCTCCATGTT GGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAATTTTG TATTTTTAGTAGAGACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGA TCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01884.hp1 others(23): Show HG00408.hp1 HG00438.hp1 HG01884.hp1 HG02258.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03516.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18947.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA19010.hp2 NA19057.hp2 NA19064.hp1 NA19080.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0014	a0001c0002 a0001c0003 a0001c0013 others(5): Show a0001c0002 a0001c0003 a0001c0013 a0002c0001 a0002c0005 a0004c0009 a0010c0025 a0014c0020	a0001c0002t0003 a0001c0003t0002 a0001c0013t0003 others(6): Show a0001c0002t0003 a0001c0003t0002 a0001c0013t0003 a0002c0001t0001 a0002c0001t0002 a0002c0005t0001 a0004c0009t0002 a0010c0025t0002 a0014c0020t0002	a0001c0002t0003g0012 a0001c0003t0002g0017 a0001c0003t0002g0024 others(16): Show a0001c0002t0003g0012 a0001c0003t0002g0017 a0001c0003t0002g0024 a0001c0003t0002g0031 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0136 a0001c0013t0003g0139 a0001c0013t0003g0140 a0002c0001t0001g0001 a0002c0001t0001g0079 a0002c0001t0002g0018 a0002c0001t0002g0027 a0002c0001t0002g0052 a0002c0005t0001g0023 a0004c0009t0002g0142 a0004c0009t0002g0145 a0010c0025t0002g0057 a0014c0020t0002g0053	26	182	0.1429	399	c.-48 others(410): Show c.-4847_-4846insCATCTCTACTAAAAATACAAAATTAGCCGGGCAC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGA TCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCC GTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGAT CGAGACCAGCCTGGCCAACATGGAGAAACCCCCATCTCTACTAAAAATAC AAAATTAGCCGGGCACGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGA GGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCA ACATGGAGAAACCCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4611		chr19	TogoVar
ODF3L2_chr19_458361_479983	479593	C C	CGGGGTTT others(392): Show CGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGA TCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GTGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGGTTTCTCCATGTT GGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAATTTTG TATTTTTAGTAGAGACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGA TCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0163 a0006c0010t0004g0163	1	157	0.0064	399	c.-48 others(410): Show c.-4847_-4846insCATCTCTACTAAAAATACAAAATTAGCCGGGCAC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGA TCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCC GTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGAT CGAGACCAGCCTGGCCAACATGGAGAAACCCCCATCTCTACTAAAAATAC AAAATTAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCA ACATGGAGAAACCCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4611		chr19	TogoVar
ODF3L2_chr19_458361_479983	479676	T T	TACAGGCG others(392): Show TACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGAC GGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGA TCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGGTTTCTCCATGTT GGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCT CCCAAAGTGCTGGGATGACAGGCGTGAGCCACCGTGCCCGGCTAATTTTG TATTTTTAGTAGAGACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGA TCTCCTGACCTCGTGATCCGCCTTCCTCGGCCTCCCAAAGTGCTGGGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0134 a0001c0002t0003g0134	1	302	0.0033	399	c.-49 others(410): Show c.-4930_-4929insCATCCCAGCACTTTGGGAGGCCGAGGAAGGCGGA TCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCC GTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCACGCCTGTC ATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGAT CGAGACCAGCCTGGCCAACATGGAGAAACCCCCGTCTCTACTAAAAATAC AAAATTAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCA ACATGGAGAAACCCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCACG GTGGCTCACGCCTGT	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4694		chr19	TogoVar
ODF3L2_chr19_458361_479983	479783	G G	GCCTCGGC others(392): Show GCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACCGTGCCCG GCTAATTTTGTATTTTTAGTAGAGACGGGGGTTTCTCCATGTTGGCCAGG CTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAG TGCTGGGATGACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTT AGTAGAGACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTG ACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGGTTT CTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	211	0.0047	399	c.-50 others(410): Show c.-5037_-5036insAAGGCGGATCACGAGGTCAGGAGATCGAGACCAG CCTGGCCAACATGGAGAAACCCCCGTCTCTACTAAAAATACAAAATTAGC CGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC AGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGA AACCCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCAC GCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTC AGGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCCGTCTCTACTA AAAATACAAAATTAGCCGGGCACGGTGGCTCACGCCTGTCATCCCAGCAC TTTGGGAGGCCGAGG	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4801		chr19	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(392): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATGTATACTCTATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	254	0.0039	399	c.-16 others(410): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATGTATACTCTATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83951892	C C	CCTCCCTC others(392): Show CCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTC CCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCT CCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCATCCCTTCC TCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTC CCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTC CCTACTTCCCTCCCTCCCTGCCTCCCTCCCTCCTTCCTTCCCTCCCTCCC TGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG CCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03139.hp1 HG02559.hp1 HG03139.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0016 a0001c0002 a0007c0016	a0001c0002t0002 a0007c0016t0003 a0001c0002t0002 a0007c0016t0003	a0001c0002t0002g0173 a0007c0016t0003g0229 a0001c0002t0002g0173 a0007c0016t0003g0229	2	288	0.0069	399	c.-15 others(410): Show c.-1511_-1510insCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCT CCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCT CCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTT CCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTC CACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCC CTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCCTCCTT CCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCC TTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCT CCCTGCCTCCCTCCT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1347		chr16	TogoVar
PALLD_chr4_168492052_168933441	168793366	C C	CATATATA others(392): Show CATATATATACATATATATGTGTGCATATATATACATATATGTGTGCATA TATATACATATATGTGTGCATATATATACATATATGTGTGCATATATATA CATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACA TATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATA TATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATA TATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATA TGTGTGCATATATATACATATATATGTGTGCATATATATACATATATATG TGTGCATATATATACATATATATGTGTGCATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03516.hp1 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0010 a0001c0002t0007 a0001c0002t0010	a0001c0002t0007g0056 a0001c0002t0010g0106 a0001c0002t0007g0056 a0001c0002t0010g0106	2	137	0.0146	399	c.196 others(420): Show c.1964+81451_1964+81452insACATATATATGTGTGCATATATAT ACATATATGTGTGCATATATATACATATATGTGTGCATATATATACATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATATGTGTGC ATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCAT ATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATATGTGATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARVB_chr22_44019302_44177939	44113512	T T	TACCAACA others(392): Show TACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAGAT ACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAA CTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGGCCCTGCACCAA CACAGATACATTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTG TTACTAACTAAGGCCCTGCACCAACACAAATACGTTCTTACTAAGTAAGG CCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGTACCAACA CAGATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTT ACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTGC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19005.hp1 NA18980.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0264 a0001c0001t0001g0009 a0001c0001t0001g0264	2	199	0.0101	399	c.274 others(416): Show c.274-5484_274-5086dupACACAGATACGTTGTTACTAAGTAAGGC CCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACAC AGATACATTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAA GTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCA CCAACACAAATACGTTCTTACTAAGTAAGGCCCTGCACCAACACAGATAC ATTGTTACTAACTAAGGCCCTGTACCAACACAGATACGTTGTTACTAAGT AAGGCCCTGCACCAACACAGATACATTGTTACTAAGGCCCTGCACCAACA CAGATACATTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTT ACTAACTAAGGCCCTGCACCA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(392): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT AATACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	122	0.0082	399	c.70 others(410): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTAATACATATATAACATATATGTATTACATATATGT AATACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATGTATTACATATATG TAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(392): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT AATACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	122	0.0082	399	c.70 others(410): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTAATACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATGTATTACATATATG TAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(392): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	122	0.0082	399	c.70 others(410): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTAATACATATATAACATGTATTACATATATG TAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(392): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATAACATATATGTATTACATATATGTATTACATATATAACAT ATATGTATTACATATATGTATTACATATATAACATATATGTATTACATAT ATGTAATACATATATAACATATATGTATTACATATATGTAATACATATAT AACATATATGTATTACATATATGTAATACATATATAACATGTATTACATA TATGTAATACACATATAACATGTATTACATATATGTAATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	399	c.70 others(410): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATAACATATATGTATTACATATATGTA TTACATATATAACATATATGTATTACATATATGTATTACATATATAACAT ATATGTATTACATATATGTAATACATATATAACATATATGTATTACATAT ATGTAATACATATATAACATATATGTATTACATATATGTAATACATATAT AACATGTATTACATATATGTAATACACATATAACATGTATTACATATATG TAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(392): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0001 a0006c0007t0001g0001	1	122	0.0082	399	c.70 others(410): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATGTATTACATATATG TAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(392): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTAATACATATATAACATATATGTATTACATA TATGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	1	122	0.0082	399	c.70 others(410): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTAATACATATATAACATGTATTACATATATG TAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCSK5_chr9_75885673_76367975	76305717	T T	TGTATCCA others(392): Show TGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTA GTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAG ACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTAGCCATGTGCCCCT ATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCT ATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATT CTGAGAGTTTAATTACCGTAGCCATGTGCCCCTATGTTAAGCACTTGACA CGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATT TTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02735.hp2 HG04199.hp2 HG02132.hp1 HG02735.hp2 HG04199.hp2	a0001 a0007 a0021 a0001 a0007 a0021	a0001c0001 a0007c0015 a0021c0090 a0001c0001 a0007c0015 a0021c0090	a0001c0001t0026 a0007c0015t0003 a0021c0090t0001 a0001c0001t0026 a0007c0015t0003 a0021c0090t0001	a0001c0001t0026g0093 a0007c0015t0003g0049 a0021c0090t0001g0150 a0001c0001t0026g0093 a0007c0015t0003g0049 a0021c0090t0001g0150	3	146	0.0205	399	c.360 others(418): Show c.3605-2792_3605-2791insGCCATGTGCCCCTATGTTAAGCACTT GACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAAT TATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAAT TACCGTAGCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCAT TTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTA GAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACCGTATCCATGTGCC CCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAAT CCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGG ATTCTGAGAGTTTAATTACTGTA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76305717	T T	TGTATCCA others(392): Show TGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTA GTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAG ACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTAGCCATGTGCCCCT ATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCT ATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATT CTGAGAGTTTAATTACTGTAGCCATGTGCCCCTATGTTAAGCACTTGACA CGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATT TTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACC	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA21309.hp2 HG02895.hp1 NA21309.hp2	a0016 a0019 a0016 a0019	a0016c0025 a0019c0091 a0016c0025 a0019c0091	a0016c0025t0005 a0019c0091t0004 a0016c0025t0005 a0019c0091t0004	a0016c0025t0005g0033 a0019c0091t0004g0164 a0016c0025t0005g0033 a0019c0091t0004g0164	2	145	0.0138	399	c.360 others(418): Show c.3605-2792_3605-2791insGCCATGTGCCCCTATGTTAAGCACTT GACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAAT TATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAAT TACTGTAGCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCAT TTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTA GAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACCGTATCCATGTGCC CCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAAT CCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGG ATTCTGAGAGTTTAATTACTGTA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76305850	T T	TGTATCCA others(392): Show TGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTA GTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAG ACAAGGAAAGTAGGATTCTGAGAGTTTAATTACCGTAGCCATGTGCCCCT ATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCT ATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATT CTGAGAGTTTAATTACCGTAGCCATGTGCCCCTATGTTAAGCACTTGACA CGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATT TTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02055.hp1 HG02280.hp1	a0002 a0007 a0002 a0007	a0002c0009 a0007c0008 a0002c0009 a0007c0008	a0002c0009t0038 a0007c0008t0012 a0002c0009t0038 a0007c0008t0012	a0002c0009t0038g0070 a0007c0008t0012g0007 a0002c0009t0038g0070 a0007c0008t0012g0007	2	163	0.0123	399	c.360 others(418): Show c.3605-2663_3605-2662insCGTAGCCATGTGCCCCTATGTTAAGC ACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCA GAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTT TAATTACCGTAGCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATC TCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCAT TTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACCGTATCCATG TGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAA CAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAG TAGGATTCTGAGAGTTTAATTAC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76305850	T T	TGTATCCA others(392): Show TGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTA GTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAG ACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTAGCCATGTGCCCCT ATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCT ATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATT CTGAGAGTTTAATTACTGTAGCCATGTGCCCCTATGTTAAGCACTTGACA CGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATT TTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0023 a0001c0013t0023	a0001c0013t0023g0137 a0001c0013t0023g0137	1	162	0.0062	399	c.360 others(418): Show c.3605-2659_3605-2658insGCCATGTGCCCCTATGTTAAGCACTT GACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAAT TATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAAT TACTGTAGCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCAT TTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTA GAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACCGTATCCATGTGCC CCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAAT CCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGG ATTCTGAGAGTTTAATTACTGTA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76305854	T T	GCCATGTG others(392): Show GCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCT TCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAA GGAAAGTAGGATTCTGAGAGTTTAATTACTGTAGCCATGTGCCCCTATGT TAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAA GGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGA GAGTTTAATTACCGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTA TTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCT CTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACCGTAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0005 a0005	a0005c0002 a0005c0002	a0005c0002t0029 a0005c0002t0029	a0005c0002t0029g0160 a0005c0002t0029g0160	1	164	0.0061	399	c.360 others(418): Show c.3605-2792_3605-2791insGCCATGTGCCCCTATGTTAAGCACTT GACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAAT TATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAAT TACTGTAGCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCAT TTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTA GAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACCGTATCCATGTGCC CCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAACAAT CCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGG ATTCTGAGAGTTTAATTACCGTA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37			chr9	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGGAGGGG others(392): Show GGGAGGGGAGGGGGAAGAGGGGAGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGAGGGGGA ATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	29	0.0345	399	c.53 others(410): Show c.5377_*5378insGGAGGGGAGGGGGAAGAGGGGAGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAG GGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(392): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACAC CCGCCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCG GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACC CGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACAC CCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0030 a0001c0010t0001g0030	1	58	0.0172	399	c.173 others(416): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGCCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGC TCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCAC ACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCG CCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCC GCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401913	C C	CCCCGACC others(392): Show CCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCC GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0024 a0012c0020t0001g0024	1	174	0.0057	399	c.173 others(418): Show c.1738-1163_1738-1162insCGACCCGCTCACCCCCGACCCGCTCA CCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCTCACACC CGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCC CGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCAC CCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCC CCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCT CACCCGGGACCCCCGCTCACACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402065	G G	GCCCCCGC others(392): Show GCCCCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGAC CCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACCCGCT CACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCC CGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCC GACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCC CGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCT CACACCCGACCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACAC CCGCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0073 a0001c0004t0001g0073	1	177	0.0056	399	c.173 others(418): Show c.1738-1012_1738-1011insCCCCGCTCACCCCCGACCCGCTCACC CCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCG ACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCG CTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTC ACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCC CCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCGGCCCCG CTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCA CACCCGCCCCGCTCACCCCGGAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLPP2_chr19_276043_296403	291604	G G	GGGGAGGA others(392): Show GGGGAGGAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGC GGGGAGGGGAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGG GAGGGGAGGAGGGAGGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGC GGGCAGGGGAGCGGCGGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGG GGAGGGAGGGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGG ACGGCAGCGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGG GTTAGGGGCGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGA GGGGAGAGGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	273	0.0037	399	c.-26 others(408): Show c.-269_-268insTCCCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCCT CCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCC TCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTG CCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCC CTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCCG CCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCC TCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCTGCT GCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTC CCCCCCTCCTCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		202		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(392): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGG GAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGAGGGGAGGAGGG GGGGAGGGGAGGAAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCAGCGGG CGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAGGAGGGAGGG GGAGGGGAGGAGGGGCGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGG AGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	113	0.0088	399	c.-27 others(408): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCGC CCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCC TCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCCCC TTCCTCCCCTCCCCCCCTCCTCCCCTCCCCCTCCCTCCCCTCCTCCCCGC CCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCC CTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCTCT CCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCG CTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PRKCA_chr17_66297613_66815743	66798947	G G	GTGGTGGT others(392): Show GTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGT GACGGTGGTGACGGTGGTGACGGTGGTGGTGGTGGTGACGGTGGTGGTGG TGACGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGACGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGACGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGACGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0049 a0001c0001t0047g0049	1	156	0.0064	399	c.185 others(418): Show c.1855-4915_1855-4914insATGGTGGTGGTGATGGTGATGGTGGT GGTGGTGGTGGTGACGGTGGTGACGGTGGTGACGGTGGTGGTGGTGGTGA CGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTG GTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGACGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123455	G G	GTCATGGT others(392): Show GTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCATG GTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0047	1	214	0.0047	399	c.335 others(418): Show c.335-11806_335-11805insCATGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACAGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTA GGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGC GATAGTTAGCGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGG GTCACAGCGATAGTTAGCGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRC2B_chr9_131389086_131505193	131420462	T T	TTTCTTTC others(392): Show TTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTCTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTT CTTTCTTTCTTTCTTTCTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT ACTTTCTTTCTTCTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTCTTTCCTTTCTTCTTCTTCTTTCTTCTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	213	0.0047	399	c.-51 others(416): Show c.-51-9615_-51-9614insCTTTCTTTCTTTCTCTTTCTTTCTTTCT TCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTACTTTCTTTCTTCTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTCTTTCCTTTCTTCTTCTTCTTTCTTCTC TTTCTTCTTTCTTTCTTTCTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PXT1_chr6_36385551_36447854	36429253	G G	GAGAGTGA others(392): Show GAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAAAAAGAAAAAGA AAAAATGTATGCATATATATGTATACATATGCCAGAAAAACACTATGCTC TTTTATGTAACTGTTCGTATAACTGGATAATTACCAGGCCGGACGCAGTG GCTCACCCTTGTAAACCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCAA TTGAGGTCAGGAGTTCTAGACCAGCCTAGCCAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAACTAGCTGGGCGTGGTGGTGCATGCCTGTAAT CTCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAGCCTGAGAGGC AGAGGTTGCAGTGAGCCAAGACGGCACCACTGCACTCCAATCTGGGCAAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03471.hp2 HG02886.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0349 a0001c0001t0009g0350 a0001c0001t0008g0349 a0001c0001t0009g0350	2	83	0.0241	399	c.-9- others(414): Show c.-9-3163_-9-3162insGTTGCCCAGATTGGAGTGCAGTGGTGCCGT CTTGGCTCACTGCAACCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCCT CAGCCTCCTGAGTAGCTGAGATTACAGGCATGCACCACCACGCCCAGCTA GTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGG TCTAGAACTCCTGACCTCAATTGATCCACCCGCCTCTGCCTCCCAAAGTG CTGGGTTTACAAGGGTGAGCCACTGCGTCCGGCCTGGTAATTATCCAGTT ATACGAACAGTTACATAAAAGAGCATAGTGTTTTTCTGGCATATGTATAC ATATATATGCATACATTTTTTCTTTTTCTTTTTTTTCTTTTTTTTTTTTT TGAGACAGGGTCTCACTCT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36429253	G G	GAGAGTGA others(392): Show GAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAAAAAGAAAAAGA AAAAATTTATGCATATATATGTATACATATGCCAGAAAAACACTATGCTC TTTTATGTAACCGTTCGTATAACTGGATAATTACCAGGCCGGACGCAGTG GCTCACCCTTGTAAACCCAGCACTTTGGGAGGCAGAGGCAGGTGGATCAA TTGAGGTCAGGAGTCCTAGACCAGCCTAGCCAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAACTAGCTGGGCGTGGTGGTGCATGCCTGTAAT CTCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAGCCTGAGAGGC AGAGGTTGCAGTGAGCCAAGACGGCACCACTGCACTCCAATCTGGGCAAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02523.hp1 HG02080.hp2 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0247 a0002c0002t0001g0248	2	83	0.0241	399	c.-9- others(414): Show c.-9-3163_-9-3162insGTTGCCCAGATTGGAGTGCAGTGGTGCCGT CTTGGCTCACTGCAACCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCCT CAGCCTCCTGAGTAGCTGAGATTACAGGCATGCACCACCACGCCCAGCTA GTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGG TCTAGGACTCCTGACCTCAATTGATCCACCTGCCTCTGCCTCCCAAAGTG CTGGGTTTACAAGGGTGAGCCACTGCGTCCGGCCTGGTAATTATCCAGTT ATACGAACGGTTACATAAAAGAGCATAGTGTTTTTCTGGCATATGTATAC ATATATATGCATAAATTTTTTCTTTTTCTTTTTTTTCTTTTTTTTTTTTT TGAGACAGGGTCTCACTCT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36429253	G G	GAGAGTGA others(392): Show GAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAAAAAGAAAAAGA AAAAATTTATGCATATATATGTATACATATGCCAGAAAAACACTATGCTC TTTTATGTAACCGTTCGTATAACTGGATAATTACCAGGCCGGACGCAGTG GCTCACCCTTGTAAACCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCAA TTGAGGTCAGGAGTCCTAGACCAGCCTAGCCAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAACTAGCTGGGCATGGTGGTGCATGCCTGTAAT CTCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAGCCTGAGAGGC AGAGGTTGCAGTGAGCCAAGACGGCACCACTGCACTCCAATCTGGGCAAC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	82	0.0122	399	c.-9- others(414): Show c.-9-3163_-9-3162insGTTGCCCAGATTGGAGTGCAGTGGTGCCGT CTTGGCTCACTGCAACCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCCT CAGCCTCCTGAGTAGCTGAGATTACAGGCATGCACCACCATGCCCAGCTA GTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGG TCTAGGACTCCTGACCTCAATTGATCCACCCGCCTCTGCCTCCCAAAGTG CTGGGTTTACAAGGGTGAGCCACTGCGTCCGGCCTGGTAATTATCCAGTT ATACGAACGGTTACATAAAAGAGCATAGTGTTTTTCTGGCATATGTATAC ATATATATGCATAAATTTTTTCTTTTTCTTTTTTTTCTTTTTTTTTTTTT TGAGACAGGGTCTCACTCT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36429253	G G	GAGAGTGA others(392): Show GAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAAAAAGAAAAAGA AAAAATTTATGCATATATATGTATACATATGCCAGAAAAACACTATGCTC TTTTATGTAACCGTTCGTATAACTGGATAATTACCAGGCCGGACGCAGTG GCTCACCCTTGTAAACCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCAA TTGAGGTCAGGAGTCCTAGACCAGCCTAGCCAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAACTAGCTGGGCGTGGTGGTGCATGCCTGTAAT CTCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAGCCTGAGAGGC AGAGGTTGCAGTGAGCCAAGACGGCACCACTGCACTCCAATCTGGGCAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(152): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00673.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0007 others(132): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0029 a0002c0002t0001g0090 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0163 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0299 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0347 a0002c0002t0002g0010	155	236	0.6568	399	c.-9- others(414): Show c.-9-3163_-9-3162insGTTGCCCAGATTGGAGTGCAGTGGTGCCGT CTTGGCTCACTGCAACCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCCT CAGCCTCCTGAGTAGCTGAGATTACAGGCATGCACCACCACGCCCAGCTA GTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGG TCTAGGACTCCTGACCTCAATTGATCCACCCGCCTCTGCCTCCCAAAGTG CTGGGTTTACAAGGGTGAGCCACTGCGTCCGGCCTGGTAATTATCCAGTT ATACGAACGGTTACATAAAAGAGCATAGTGTTTTTCTGGCATATGTATAC ATATATATGCATAAATTTTTTCTTTTTCTTTTTTTTCTTTTTTTTTTTTT TGAGACAGGGTCTCACTCT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36429253	G G	GAGAGTGA others(392): Show GAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAAAAAGAAAAAGA AAAAATTTATGCATATATATGTATACATATGCCAGAAAAACACTATGCTC TTTTATGTAACTGTTCGTATAACTGGATAATTACCAGGCCGGACGCAGTG GCTCACCCTTGTAAACCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCAA TTGAGGTCAGGAGTTCTAGACCAGCCTAGCCAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGTGCATGCCTGTAAT CTCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAGCCTGAGAGGC AGAGGTTGCAGTGAGCCAAGACGGCACCACTGCACTCCAATCTGGGCAAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp2 others(13): Show HG00738.hp2 HG01167.hp1 HG01169.hp2 HG01361.hp2 HG01891.hp1 HG02559.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03540.hp2 HG03579.hp1 NA18942.hp1 NA18957.hp1 NA18977.hp2 NA18978.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0003t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(13): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0005g0165 a0001c0001t0010g0352 a0001c0001t0011g0351 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298	16	97	0.1649	399	c.-9- others(414): Show c.-9-3163_-9-3162insGTTGCCCAGATTGGAGTGCAGTGGTGCCGT CTTGGCTCACTGCAACCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCCT CAGCCTCCTGAGTAGCTGAGATTACAGGCATGCACCACCACGCCCAGCTA CTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGG TCTAGAACTCCTGACCTCAATTGATCCACCCGCCTCTGCCTCCCAAAGTG CTGGGTTTACAAGGGTGAGCCACTGCGTCCGGCCTGGTAATTATCCAGTT ATACGAACAGTTACATAAAAGAGCATAGTGTTTTTCTGGCATATGTATAC ATATATATGCATAAATTTTTTCTTTTTCTTTTTTTTCTTTTTTTTTTTTT TGAGACAGGGTCTCACTCT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36429272	A A	AAAAAAAA others(392): Show AAAAAAAAAAAAAAAGAAAAAAAAGAAAAAGAAAAAATTTATGCATATAT ATGTATACATATGCCAGAAAAACACTATGCTCTTTTATGTAACTGTTCGT ATAACTGGATAATTACCAGGCCGGACGCAGTGGCTCACCCTTGTAAACCC AGCACTTTGGGAGGCAGAGGCGGGTGGATCAATTGAGGTCAGGAGTTCTA GACCAGCCTAGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAA AGTAGCTGGGCGTGGTGGTGCATGCCTGTAATCTCAGCTACTCAGGAGGC TGAGGCAGGAGAATAGCTTGAGCCTGAGAGGCAGAGGTTGCAGTGAGCCA AGACGGCACCACTGCACTCCAATCTGGGCAACAGAGTGAGACCCTGTCTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02970.hp2 HG01070.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0160 a0001c0001t0001g0125 a0001c0001t0001g0160	2	388	0.0052	399	c.-9- others(414): Show c.-9-3182_-9-3181insGAGACAGGGTCTCACTCTGTTGCCCAGATT GGAGTGCAGTGGTGCCGTCTTGGCTCACTGCAACCTCTGCCTCTCAGGCT CAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATG CACCACCACGCCCAGCTACTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTGGCTAGGCTGGTCTAGAACTCCTGACCTCAATTGATCCACCCG CCTCTGCCTCCCAAAGTGCTGGGTTTACAAGGGTGAGCCACTGCGTCCGG CCTGGTAATTATCCAGTTATACGAACAGTTACATAAAAGAGCATAGTGTT TTTCTGGCATATGTATACATATATATGCATAAATTTTTTCTTTTTCTTTT TTTTCTTTTTTTTTTTTTT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
RAB11FIP3_chr16_420649_528011	492455	T T	TCCCCGGG others(392): Show TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGG AGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	269	0.0037	399	c.126 others(418): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGG AGACCCGAGGCCGTCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RGPD5_chr2_109789305_109862705	109794583	G G	GGGGGGAG others(392): Show GGGGGGAGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGG CGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCG GCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGG GGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGGGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGG GGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCGGCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	33	0.0303	399	c.72+ others(410): Show c.72+49_72+50insGGAGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCG GCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCC CGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCC GGGGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCG GCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGC CGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC CCCGGCCCGGCCGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(392): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAAATATATATAT TTAAATATATATTAATATATATATTTAAAGATATATATTAAATTATATAT ATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATAC ATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATATT TTTAAATATATATATATTTATATATATATTTATATATATATATTTATATA TATATTTTTATATATATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	364	0.0027	399	c.182 others(416): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAAATATATATATTTAAATATATATTAATATATATATTTAAA GATATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTA AATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATATA TATATTTTTAATATATATATTTTTAAATATATATATATTTATATATATAT TTATATATATATATTTATATATATATTTTTATATATATATATTTATATAT ATATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(392): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAAATATATATAT TTAAATATATATTAATATATATATTTAAAGATATATATTAAATTATATAT ATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATAC ATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATATT TTTAAATATATATATATTTATATATATATTTTTATATATATATTTATATA TATATTTATATATATATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	364	0.0027	399	c.182 others(416): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAAATATATATATTTAAATATATATTAATATATATATTTAAA GATATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTA AATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATATA TATATTTTTAATATATATATTTTTAAATATATATATATTTATATATATAT TTTTATATATATATTTATATATATATTTATATATATATATATTTATATAT ATATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(392): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAAATATATATAT TTAAATATATATTAATATATATATTTAAAGATATATATTAAATTATATAT ATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATAC ATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATATT TTTAAATATATATATATTTATATATATATTTTTATATATATATTTATATA TATATTTTTATATATATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01109.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	2	365	0.0055	399	c.182 others(416): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAAATATATATATTTAAATATATATTAATATATATATTTAAA GATATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTA AATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATATA TATATTTTTAATATATATATTTTTAAATATATATATATTTATATATATAT TTTTATATATATATTTATATATATATTTTTATATATATATATTTATATAT ATATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(392): Show AATATATATATTTAAATATATATATTAAAAATATATATATTTAAATATAT ATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATATATTAAT ATACATATTTTAATATATATAATTTAATATATATCTTTAAATATATATAA ATATATATTTAAATATATATATTTAAATATATATTAATATATATATTTAA AGATTATATATTAAATTATATATATTAAAATATGTATATTAATATATATT TAAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATA TATATATTTTTAATATATATATTTTTAAATATATATATTTATATATATAT TTTTATATATATATATTTATATATATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG02145.hp1 others(20): Show HG00280.hp2 HG00544.hp2 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02622.hp2 HG02735.hp1 HG03139.hp2 HG03688.hp2 HG03831.hp2 NA18948.hp2 NA18959.hp2 NA18962.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp2 NA18982.hp1 NA18983.hp2 NA18991.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0009 a0001c0003 a0003c0009	a0001c0003t0002 a0003c0009t0002 a0001c0003t0002 a0003c0009t0002	a0001c0003t0002g0004 a0001c0003t0002g0071 a0001c0003t0002g0080 others(2): Show a0001c0003t0002g0004 a0001c0003t0002g0071 a0001c0003t0002g0080 a0001c0003t0002g0082 a0003c0009t0002g0004	23	28	0.8214	399	c.182 others(416): Show c.182-2703_182-2702insTATATATATTAAAAATATATATATTTAA ATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATAT ATTAATATACATATTTTAATATATATAATTTAATATATATCTTTAAATAT ATATAAATATATATTTAAATATATATATTTAAATATATATTAATATATAT ATTTAAAGATTATATATTAAATTATATATATTAAAATATGTATATTAATA TATATTTAAATTATATAATTTAAATATACATATTTAAAAATATATATATT TAAATATATATATTTTTAATATATATATTTTTAAATATATATATTTATAT ATATATTTTTATATATATATATTTATATATATATTTTTAAATATATATAT ATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(392): Show AATATATATATTTAAATATATATATTAAAAATATATATATTTAAATATAT ATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATATATTAAT ATACATATTTTAATATATATAATTTAATATATATCTTTAAATATATATAA ATATATATTTAAATATATATATTTAAATATATATTAATATATATTTAAAG ATTATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTA AATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATATA TATATTTTTAATATATATATTTTTAAATATATATATTTATATATATATTT TTATATATATATATTTATATATATATTTTTAAATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0076 a0001c0003t0002g0076	1	6	0.1667	399	c.182 others(416): Show c.182-2703_182-2702insTATATATATTAAAAATATATATATTTAA ATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATAT ATTAATATACATATTTTAATATATATAATTTAATATATATCTTTAAATAT ATATAAATATATATTTAAATATATATATTTAAATATATATTAATATATAT TTAAAGATTATATATTAAATTATATATATTAAAATATGTATATTAATATA TATTTAAATTATATAATTTAAATATACATATTTAAAAATATATATATTTA AATATATATATTTTTAATATATATATTTTTAAATATATATATTTATATAT ATATTTTTATATATATATATTTATATATATATTTTTAAATATATATATAT ATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(392): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATAAATATATATTTAAATATATATATTTAAATA TATATTAATATATATATTTAAAGATATATATTAAATTATATATATTAAAA TATGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTA AAAATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAAT ATATATATATTTATATATATATTTTTATATATATATATTTATATATATAT TTTTATATATATATATTTATATATATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	6	0.1667	399	c.182 others(416): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATAAATATATATTTAAATATATATATT TAAATATATATTAATATATATATTTAAAGATATATATTAAATTATATATA TTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATACA TATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATATTT TTAAATATATATATATTTATATATATATTTTTATATATATATATTTATAT ATATATTTTTATATATATATATTTATATATATATTTTTAAATATATATAT ATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(392): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATTAATATATATTTAAATATTTAAATATATATT AATATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATA TTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAAATATA TATATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATAT TTATATATATATTTTTAAATATATATATATTTATATATATATTTTTAAAT ATATATATATATATTTATATATATATTTTTAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0086 a0001c0002t0003g0086	1	6	0.1667	399	c.182 others(416): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATTAATATATATTTAAATATTTAAATA TATATTAATATATATTTAAAGATATATATTAAATTATATATATTAAAATA TGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAA AATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAATAT ATATATTTATATATATATTTTTAAATATATATATATTTATATATATATTT TTAAATATATATATATATATTTATATATATATTTTTAAATATATATATAT ATATATATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATAGA others(392): Show ATGATAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAGAGATGATGG TGATGGTGATGATGGAGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTG GTGATGATGGTGATGGTGATGGTAGAGATGATGGTGATGATGGAGGTGGT GGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGA TGGTGACGGTGATGGTAGAGATGATAGTGATAGTGGTGGTGATGATGGTG GTGATGGTGGTGGTGGTGATGATGGTGATGGTAGAGATGGTGGTGGTGGT GGTGGTGATGATGGTGACGGTGATGGTAGAGATGATGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00621.hp1 others(40): Show HG00323.hp1 HG00544.hp1 HG00621.hp1 HG00735.hp2 HG01081.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG02015.hp1 HG02165.hp1 HG02280.hp1 HG02486.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03540.hp1 HG03834.hp1 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18963.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(34): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0024 a0001c0029 a0001c0031 a0001c0034 a0001c0036 a0001c0037 a0001c0053 a0001c0058 a0001c0066 a0001c0074 a0001c0083 a0001c0084 a0001c0087 a0001c0090 a0001c0091 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097	a0001c0002t0007 a0001c0002t0017 a0001c0003t0001 others(37): Show a0001c0002t0007 a0001c0002t0017 a0001c0003t0001 a0001c0004t0001 a0001c0005t0026 a0001c0006t0076 a0001c0007t0069 a0001c0008t0036 a0001c0008t0054 a0001c0009t0001 a0001c0009t0078 a0001c0011t0062 a0001c0012t0003 a0001c0013t0013 a0001c0015t0007 a0001c0016t0029 a0001c0018t0017 a0001c0019t0003 a0001c0022t0001 a0001c0023t0007 a0001c0024t0003 a0001c0029t0025 a0001c0031t0027 a0001c0034t0004 a0001c0036t0004 a0001c0037t0053 a0001c0053t0006 a0001c0058t0004 a0001c0066t0058 a0001c0074t0032 a0001c0083t0028 a0001c0084t0059 a0001c0087t0002 a0001c0090t0001 a0001c0091t0016 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0096t0072 a0001c0097t0001	a0001c0002t0007g0136 a0001c0002t0017g0118 a0001c0003t0001g0156 others(40): Show a0001c0002t0007g0136 a0001c0002t0017g0118 a0001c0003t0001g0156 a0001c0004t0001g0152 a0001c0005t0026g0151 a0001c0006t0076g0183 a0001c0007t0069g0128 a0001c0008t0036g0002 a0001c0008t0054g0169 a0001c0009t0001g0125 a0001c0009t0078g0021 a0001c0011t0062g0114 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0013t0013g0061 a0001c0015t0007g0140 a0001c0015t0007g0146 a0001c0016t0029g0184 a0001c0018t0017g0141 a0001c0019t0003g0134 a0001c0022t0001g0170 a0001c0023t0007g0132 a0001c0024t0003g0133 a0001c0029t0025g0153 a0001c0031t0027g0173 a0001c0034t0004g0131 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0037t0053g0139 a0001c0053t0006g0122 a0001c0058t0004g0154 a0001c0066t0058g0126 a0001c0074t0032g0060 a0001c0083t0028g0158 a0001c0084t0059g0165 a0001c0087t0002g0050 a0001c0090t0001g0161 a0001c0091t0016g0166 a0001c0093t0070g0157 a0001c0094t0057g0137 a0001c0095t0003g0138 a0001c0096t0072g0171 a0001c0097t0001g0155	43	50	0.8600	399	c.349 others(416): Show c.349-7107_349-7106insAGAGATGGTGATGGTGGTGATGATGATG GTCGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTAGAGATGATGGTGATGGTGATGATGGAGGTGATGGTGGTGATGG TGATGGTGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGATG GTGATGATGGAGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATAGTGATAG TGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGATGGTGATGGTA GAGATGGTGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGAT GATGGTGGTGGTGGTGGTGAT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(392): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp2 HG01169.hp2 others(5): Show HG01123.hp1 HG01168.hp2 HG01169.hp2 HG02004.hp1 NA18949.hp1 NA18961.hp1 NA19054.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0009 a0001c0002t0004 a0001c0002t0009	a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0029 others(5): Show a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0029 a0001c0002t0004g0031 a0001c0002t0004g0033 a0001c0002t0004g0053 a0001c0002t0009g0042 a0001c0002t0009g0048	8	189	0.0423	399	c.632 others(416): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(392): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACTGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0057 a0001c0002t0009g0057	1	182	0.0055	399	c.632 others(416): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACTGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar

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