Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
MSH3_chr5_80649652_80881815	80692400	T T	TTAGATAG others(177): Show TTAGATAGATAGATAAACATGTATATGTTTAGATAGATAAACATGTATAT GTTTAGATAGATAGACATGTATATGTTTAGATAGATAGACATGTATATGT TTAGATAGATAGACATGTATATGTTTAGATAGATAGATAAACATGTATAT GTTTAGATAGATAGATAAACATGTATATGTTTAGA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0331 a0001c0001t0006g0331	1	362	0.0028	184	c.134 others(205): Show c.1340+13317_1340+13318insGATAAACATGTATATGTTTAGATA GATAAACATGTATATGTTTAGATAGATAGACATGTATATGTTTAGATAGA TAGACATGTATATGTTTAGATAGATAGACATGTATATGTTTAGATAGATA GATAAACATGTATATGTTTAGATAGATAGATAAACATGTATATGTTTAGA TAGATAGATA		MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr5	TogoVar
MYNN_chr3_169768396_169794716	169771186	A A	TTTATATT others(177): Show TTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCAAATATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	184	c.-23 others(195): Show c.-2309_-2308insTTTATATTTATATATCATAAATATATAAAAATTT ATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAAT ATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTA TATATCATAAATATATAAAAATTTATATTTATATATCAAATATATAAAAA		MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding					2210		chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084296	T T	TATAATAC others(177): Show TATAATACACATCTATGTATTATATATCTATAATACACATCTATGTATTA TATATCTATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	170	0.0059	184	c.332 others(203): Show c.332+40052_332+40053insTATAATACACATCTATGTATTATATA TCTATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATC		MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084511	C C	CTATCGAT others(177): Show CTATCGATAGATAATACACATCTATGTATTATATATCGATAATACACATC TATGTATTATATATCGATAATACACATCTATGTATTATATATCGATAGAT AATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATT ATATATCGATAGATAATACACATCTATGTATTATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	170	0.0059	184	c.332 others(203): Show c.332+40245_332+40246insATAGATAATACACATCTATGTATTAT ATATCGATAATACACATCTATGTATTATATATCGATAATACACATCTATG TATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGAT AATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATT ATATATCG		MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CAGTGCCC others(177): Show CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCA GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	184	c.-41 others(195): Show c.-4100_-4099insAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3985		chr22	TogoVar
NEO1_chr15_73047463_73310205	73191318	T T	TGTAACTT others(177): Show TGTAACTTTAGGATAATAGTAATTGGAAAGAACATAGAAAGACAGAGTAT CGATGAGAATTCAATAGTCAGCATTAAAGGAGATTAAAAGTGAAGATAAA AGCTTAACTTTATGAAGCAAAGTTTGAAGGTTTTTTCAAAATAGACAACA GAAATCTTTAGGATAATAGTAACTTTAGGATAATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0057 a0001c0003t0003g0057	1	324	0.0031	184	c.129 others(205): Show c.1291+13047_1291+13230dupTTTAGGATAATAGTAACTTTAGGA TAATAGTAACTTTAGGATAATAGTAATTGGAAAGAACATAGAAAGACAGA GTATCGATGAGAATTCAATAGTCAGCATTAAAGGAGATTAAAAGTGAAGA TAAAAGCTTAACTTTATGAAGCAAAGTTTGAAGGTTTTTTCAAAATAGAC AACAGAAATC		NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr15	TogoVar
NINL_chr20_25447697_25590531	25468941	T T	TGACTCTC others(177): Show TGACTCTCACTGGTGGGTGCCCCACTGCCCTGTCCCCTGACTCTCACTGG TGGGTGCCCCACTGCCCTGTCCCTCGACTCTCACTGGTGGGTGCCCCACT GCCCTGTCCCCCGACTCTCACTGGTGGGCACCCCCCCTGCCCTGTCCCAA CTCTCACTGGTGGGCGCCCCACCGCCCTGTCCCCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0214 a0004c0012t0001g0214	1	310	0.0032	184	c.335 others(203): Show c.3353+1049_3353+1050insGGGGGACAGGGCGGTGGGGCGCCCAC CAGTGAGAGTTGGGACAGGGCAGGGGGGGTGCCCACCAGTGAGAGTCGGG GGACAGGGCAGTGGGGCACCCACCAGTGAGAGTCGAGGGACAGGGCAGTG GGGCACCCACCAGTGAGAGTCAGGGGACAGGGCAGTGGGGCACCCACCAG TGAGAGTC		NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	18/23						chr20	TogoVar
NLK_chr17_28037677_28201381	28172264	A A	AAATTCCT others(177): Show AAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGAATTT ATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGA ATTTATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATG AGGAATTTATTTAAATTCCTTTACATGAGGAATTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19043.hp1 HG02257.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0105 a0001c0001t0005g0106	2	108	0.0185	184	c.104 others(201): Show c.1048-253_1048-252insAATTCCTTTACATGAGGAATTTATTTAA ATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGAATTTAT TTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGAAT TTATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAG GAATTT		NLK	ENSG00000087095.13	transcript	ENST00000407008.8	protein_coding	6/10						chr17	TogoVar
NLRP13_chr19_55890945_55937336	55930880	A A	ATATATAT others(177): Show ATATATATATATATATATATATATACACACACACGTATATATATACATAT ATATATACATACACATATATATATACATATATATACATACACATATATAT ACATATATATACATACACATATATATACATATATATACATACACATATAT ATATACATACACATATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0411 a0005c0013t0001g0411	1	440	0.0023	184	c.319 others(201): Show c.319+1112_319+1113insCACATATATATGTATATATATATGTGTA TGTATATATATATGTGTATGTATATATATGTATATATATGTGTATGTATA TATATGTATATATATGTGTATGTATATATATGTATATATATATGTGTATG TATATATATATGTATATATATACGTGTGTGTGTATATATATATATATATA TATATA		NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10						chr19	TogoVar
NLRP5_chr19_55994726_56066810	55998672	G G	GTGTGTGT others(177): Show GTGTGTGTGTGTGTGTATATATATATATATGTGTGTATATATATATATAT ATGTGTGTATATATATATATGTGTGTGTATATATATATGTGTGTATATAT ATATATGTGTGTATATATATATATGTGTGTATATATATATATGTGTGTAT ATATATATGTGTGTATATATATATGTGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0351 a0009c0013t0001g0351	1	396	0.0025	184	c.-10 others(195): Show c.-1054_-1053insTGTGTGTGTGTGTGTATATATATATATATGTGTG TATATATATATATATATGTGTGTATATATATATATGTGTGTGTATATATA TATGTGTGTATATATATATATGTGTGTATATATATATATGTGTGTATATA TATATATGTGTGTATATATATATGTGTGTATATATATATGTGTGTATATA		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding					1053		chr19	TogoVar
NLRP5_chr19_55994726_56066810	55998672	G G	GTGTGTGT others(177): Show GTGTGTGTGTGTGTGTATATATATATATATGTGTGTATATATATATATAT ATGTGTGTATATATATATATGTGTGTGTATATATATATGTGTGTATATAT ATATGTGTGTATATATATATATGTGTGTATATATATATATGTGTGTATAT ATATATGTGTGTATATATATATATGTGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0350 a0009c0013t0001g0350	1	396	0.0025	184	c.-10 others(195): Show c.-1054_-1053insTGTGTGTGTGTGTGTATATATATATATATGTGTG TATATATATATATATATGTGTGTATATATATATATGTGTGTGTATATATA TATGTGTGTATATATATATGTGTGTATATATATATATGTGTGTATATATA TATATGTGTGTATATATATATGTGTGTATATATATATATGTGTGTATATA		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding					1053		chr19	TogoVar
NPIPB4_chr16_21829582_21862756	21850494	C C	CAAAAAAT others(177): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGGTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0061 a0061	a0061c0061 a0061c0061	a0061c0061t0001 a0061c0061t0001	a0061c0061t0001g0048 a0061c0061t0001g0048	1	204	0.0049	184	c.121 others(201): Show c.121-2954_121-2953insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTT		NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	2/7						chr16	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(177): Show ATATATAATATATATTATATATATAAAGTATATATAATATATATAATATA TATTATATATATAAAGTATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATTATATATAAAGTATATATATAATATATATTATATA TATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	308	0.0033	184	c.730 others(201): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATACTTTATATA TATAATATATATTATATATATTATATATACTTTATATATATAATATATAT TATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(177): Show ATATATAATATATATTATATATATAAAGTATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATTATATATAAAGTATATATATAATATATATTATATA TATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01074.hp2 others(10): Show HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG02004.hp2 NA18960.hp2 NA18983.hp1 NA19065.hp1 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(10): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0008g0026 a0001c0001t0008g0174	13	308	0.0422	184	c.730 others(201): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATACTTTATATATATAATATATAT TATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NXN_chr17_794310_984776	891873	C C	CTAACCCC others(177): Show CTAACCCCACCATGCACAACCCAACAGGGAACCTAAGCTAACCCCACCAT GCACGACCCAACAGGGCACCTAAACTAACCCCACCATGCACGACCCAGCA GGGAACCTAAGCTAACCCCACCATGCAGAACCCAACAGGGAACCTAAACT AACCCCACCATGCACAACCCAACAAGGAACTAAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01358.hp1 others(20): Show HG00735.hp2 HG01167.hp1 HG01358.hp1 HG01928.hp1 HG01975.hp2 HG02257.hp1 HG02723.hp1 HG02735.hp1 HG03041.hp1 HG03130.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18964.hp1 NA19043.hp2 NA19066.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0002t0004 a0001c0002t0032 a0001c0004t0007 a0001c0011t0006 a0003c0013t0001	a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0076 others(20): Show a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0002g0053 a0001c0001t0002g0093 a0001c0001t0002g0112 a0001c0001t0002g0178 a0001c0001t0003g0157 a0001c0001t0003g0181 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0006g0156 a0001c0001t0007g0040 a0001c0001t0017g0002 a0001c0002t0004g0228 a0001c0002t0032g0242 a0001c0004t0007g0233 a0001c0011t0006g0159 a0003c0013t0001g0236	23	242	0.0950	184	c.361 others(203): Show c.361-65796_361-65795insCCTTAGTTCCTTGTTGGGTTGTGCAT GGTGGGGTTAGTTTAGGTTCCCTGTTGGGTTCTGCATGGTGGGGTTAGCT TAGGTTCCCTGCTGGGTCGTGCATGGTGGGGTTAGTTTAGGTGCCCTGTT GGGTCGTGCATGGTGGGGTTAGCTTAGGTTCCCTGTTGGGTTGTGCATGG TGGGGTTA		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXPH1_chr7_8428609_8757961	8623671	A A	AAAAAGTT others(177): Show AAAAAGTTCTTATTATTTTTTTTTTTTCTTTCTCTGCCCCTATCTTTTTT CCAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGACAATGTTTTAC TGTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTAGGAGTATTTT CTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG01081.hp1 others(38): Show HG00323.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01433.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp2 HG02976.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020	a0001c0001t0001g0014 a0001c0001t0001g0044 a0001c0001t0001g0050 others(38): Show a0001c0001t0001g0014 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0002g0178 a0001c0001t0003g0049 a0001c0001t0003g0091 a0001c0001t0003g0111 a0001c0001t0003g0143 a0001c0001t0005g0047 a0001c0001t0005g0072 a0001c0001t0005g0162 a0001c0001t0006g0170 a0001c0001t0009g0137 a0001c0001t0009g0138 a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0020g0117	41	208	0.1971	184	c.55- others(203): Show c.55-127324_55-127323insATTTTTTTTTTTTCTTTCTCTGCCCC TATCTTTTTTCCAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGAC AATGTTTTACTGTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTA GGAGTATTTTCTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGAAAAG TTCTTATT		NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8623671	A A	AAAAAGTT others(177): Show AAAAAGTTCTTATTATTTTTTTTTTTTCTTTCTCTGCCCCTATCTTTTTT CCAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGACAGTGTTTTAC TGTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTAGGAGTATTTT CTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	208	0.0048	184	c.55- others(203): Show c.55-127324_55-127323insATTTTTTTTTTTTCTTTCTCTGCCCC TATCTTTTTTCCAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGAC AGTGTTTTACTGTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTA GGAGTATTTTCTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGAAAAG TTCTTATT		NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8623671	A A	AAAAAGTT others(177): Show AAAAAGTTCTTATTTTTTTTTTTTTTTCTTTCTCTGCCCCTATCTTTTTT CCAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGACAATGTTTTAC TGTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTAGGAGTATTTT CTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02109.hp2 others(12): Show HG01069.hp1 HG01071.hp2 HG02109.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02809.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 NA18906.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0013 a0001c0001t0001g0073 a0001c0001t0001g0105 others(12): Show a0001c0001t0001g0013 a0001c0001t0001g0073 a0001c0001t0001g0105 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0179 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0003g0058 a0001c0001t0003g0148 a0001c0001t0005g0048	15	208	0.0721	184	c.55- others(203): Show c.55-127321_55-127320insTTTTTTTTTTCTTTCTCTGCCCCTAT CTTTTTTCCAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGACAAT GTTTTACTGTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTAGGA GTATTTTCTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGAAAAGTTC TTATTTTT		NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(177): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGAAAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	296	0.0034	184	c.-20 others(193): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC		OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding					173		chr13	TogoVar
OR13D1_chr9_104689518_104700462	104696164	A A	AAAGAAAG others(177): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	184	c.70 others(193): Show c.702_*703insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG		OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding					703		chr9	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(177): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGA GAGGAGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGAGACGGGGGG AGAGAGAGGGAGAAAAGGAGAGGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	186	0.0054	184	c.537 others(203): Show c.537+18643_537+18644insTCTCTCTCCCCCCCTCTCCTTTTCTC CCTCTCTCTCCCCCCGTCTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTC TCTCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCC CCCCCCCCTCCCCCACCTCCTCGTCTCTCCCCCCCCTCTCCCCCACCTCC TTGTCTCT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(177): Show GGAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGG AGAGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAG GAGAGAGAGAGGGAGTAAAGGGGAGGGAGGGGGGGAGAGAGAGACGGGGG GAGAGAGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01070.hp2 others(7): Show HG00280.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01175.hp2 HG01978.hp2 HG01993.hp2 HG02965.hp2 HG03834.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0031 a0003c0017	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0002 a0002c0031t0001 a0003c0017t0001	a0001c0001t0001g0024 a0001c0001t0001g0133 a0001c0002t0001g0113 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0133 a0001c0002t0001g0113 a0002c0003t0001g0028 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0107 a0002c0005t0002g0116 a0002c0031t0001g0159 a0003c0017t0001g0004	10	186	0.0538	184	c.537 others(203): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCTCCCCTTTACTCCCT CTCTCTCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCT CCCCCCTCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCT TGTCTCTC		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(177): Show GGAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAG GAGAGAGAGAGGGAGTAAAGGGGAGGGAGGGGGGGAGAGAGAGACGGGGG GAGAGAGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG01255.hp2 others(1): Show HG00280.hp2 HG01175.hp1 HG01255.hp2 HG02602.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0015 others(1): Show a0001c0001 a0001c0009 a0003c0015 a0003c0022	a0001c0001t0009 a0001c0009t0001 a0003c0015t0002 others(1): Show a0001c0001t0009 a0001c0009t0001 a0003c0015t0002 a0003c0022t0003	a0001c0001t0009g0127 a0001c0009t0001g0125 a0003c0015t0002g0009 others(1): Show a0001c0001t0009g0127 a0001c0009t0001g0125 a0003c0015t0002g0009 a0003c0022t0003g0160	4	186	0.0215	184	c.537 others(203): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCTCCCCTTTACTCCCT CTCTCTCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCT CCCCCCCCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCT TGTCTCTC		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGGAGAGA others(177): Show GGGAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGG GAGGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGA GGAGAGAGAGAGGGAGTAAAGGGGAGGGAGGGGGGGAGAGAGAGACGGGG GGAGAGAGAGGGAGAAAAGGAGAGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	186	0.0054	184	c.537 others(203): Show c.537+18643_537+18644insTCTCTCTCCCCCTCTCCTTTTCTCCC TCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCTCCCCTTTACTCCCTC TCTCTCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTC CCCCCCCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTT GTCTCTCC		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11						chr3	TogoVar
P2RY8_chrX_1457581_1542185	1524547	A A	ATCCACTC others(177): Show ATCCACTCATCCATCCATCCATCCATCCCTCCATCCATGCATGCATGCAT CCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCTATCCATCC ATCCATCCATCCATTCATCCACTCATCCATCCATACATCCACGCATCCAT CCATCCATCCATCCATCCATTCATCCATCCATCCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	114	0.0088	184	c.-25 others(203): Show c.-25+12373_-25+12374insGGGATGGATGGATGAATGGATGGATG GATGGATGGATGGATGCGTGGATGTATGGATGGATGAGTGGATGAATGGA TGGATGGATGGATGGATAGATGGATGAATGGATGGATGGATGGATGGATG GATGGATGGATGCATGCATGCATGGATGGAGGGATGGATGGATGGATGGA TGAGTGGA		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(177): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGG GGAGGGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	302	0.0033	184	c.155 others(201): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCTTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTTCC CTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PAK4_chr19_39120786_39184404	39153279	G G	GACAGAGT others(177): Show GACAGAGTCCCACTCCATCACCCAGGCTGAAGTGCAGTGGCACAATCTCA GCTTACTGCAACCTCCACCTTCTGGGTTCAAGCAATTCTCGTACCTCAGC CTTCCGAGTAGCTGGAATCACAGGCATGTGCCACCACACCCGGCTAATTT TTGTGTTTTGTTGTTGTTGTTTTTATTTTTTTGAA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	368	0.0027	184	c.-95 others(203): Show c.-95-14850_-95-14849insTCCGAGTAGCTGGAATCACAGGCATG TGCCACCACACCCGGCTAATTTTTGTGTTTTGTTGTTGTTGTTTTTATTT TTTTGAAACAGAGTCCCACTCCATCACCCAGGCTGAAGTGCAGTGGCACA ATCTCAGCTTACTGCAACCTCCACCTTCTGGGTTCAAGCAATTCTCGTAC CTCAGCCT		PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM_chr19_703935_753329	735231	T T	TGTGTCTG others(177): Show TGTGTCTGGGGGCCCAGGTGCTTGTCTGGATGTCTGGGGGCCCACAGGTG CCTGTGTCCGGGTGTCTGGGTGGGATCTGTGTGTCTGAGGGCCCAGGTGC CTGTCTGGATGTCTGGGGGCCCAGGTTCCTGTGTCCGGGTGTCTGGATGG GATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp2 HG02886.hp2 others(7): Show HG02055.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG03540.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0016 a0001c0002 a0001c0003 a0001c0016	a0001c0002t0001 a0001c0002t0002 a0001c0003t0006 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0006 a0001c0016t0001	a0001c0002t0001g0028 a0001c0002t0002g0004 a0001c0002t0002g0025 others(6): Show a0001c0002t0001g0028 a0001c0002t0002g0004 a0001c0002t0002g0025 a0001c0002t0002g0262 a0001c0002t0002g0264 a0001c0002t0002g0361 a0001c0002t0002g0365 a0001c0003t0006g0241 a0001c0016t0001g0349	10	404	0.0248	184	c.443 others(199): Show c.443-768_443-767insTTGTCTGGATGTCTGGGGGCCCACAGGTGC CTGTGTCCGGGTGTCTGGGTGGGATCTGTGTGTCTGAGGGCCCAGGTGCC TGTCTGGATGTCTGGGGGCCCAGGTTCCTGTGTCCGGGTGTCTGGATGGG ATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGGTGTCTGGGGGCCCAG GTGC		PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM_chr19_703935_753329	735232	G G	GTGTCTGG others(177): Show GTGTCTGGGGGCCCAGGTGCTTGTCTGGATGTCTGGGGGCCCACAGGTGC CTGTGTCCGGGTGTCTGGGTGGGATCTGTGTGTCTGAGGGCCCAGGTGCC TGTCTGGATATCTGGGGGCCCAGGTTCCTGTGTCCGGGTGTCTGGATGGG ATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03239.hp2 HG02698.hp2 HG03239.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0004 a0002c0001t0001 a0002c0001t0004	a0002c0001t0001g0056 a0002c0001t0004g0312 a0002c0001t0001g0056 a0002c0001t0004g0312	2	404	0.0050	184	c.443 others(199): Show c.443-768_443-767insTTGTCTGGATGTCTGGGGGCCCACAGGTGC CTGTGTCCGGGTGTCTGGGTGGGATCTGTGTGTCTGAGGGCCCAGGTGCC TGTCTGGATATCTGGGGGCCCAGGTTCCTGTGTCCGGGTGTCTGGATGGG ATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGATGTCTGGGGGCCCAG GTGC		PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM_chr19_703935_753329	735232	G G	GTGTCTGG others(177): Show GTGTCTGGGGGCCCAGGTGCTTGTCTGGATGTCTGGGGGCCCACAGGTGC CTGTGTCCGGGTGTCTGGGTGGGATCTGTGTGTCTGAGGGCCCAGGTGCC TGTCTGGATGTCTGGGGGCCCAGGTTCCTGTGTCCGGGTGTCTGGATGGG ATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0024 a0001c0004t0024	a0001c0004t0024g0126 a0001c0004t0024g0126	1	404	0.0025	184	c.443 others(199): Show c.443-768_443-767insTTGTCTGGATGTCTGGGGGCCCACAGGTGC CTGTGTCCGGGTGTCTGGGTGGGATCTGTGTGTCTGAGGGCCCAGGTGCC TGTCTGGATGTCTGGGGGCCCAGGTTCCTGTGTCCGGGTGTCTGGATGGG ATCCGTGTGTCTGAGGGCCCAGGTGCCTGTCTGGATGTCTGGGGGCCCAG GTGC		PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
PARL_chr3_183824271_183889880	183884808	G G	GCAGCCCC others(177): Show GCAGCCCCAGCCTCTCTGCGCCCAGCCTCGCCACGCCCCCTCCCCCCCCC CCCCCCCACGCACCCCACCCCACGCCCACCCTCCCCACCCCCCCCCGCCT CCCACCCCCCCCCCCCCACTCCCCCACCCCCCCCATCTCCCCTCCCCACC ACCCTCCCCCCACCCCCCTCCCACCCTCCCCTCCT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0019 a0005c0005t0001g0019	1	358	0.0028	184	c.38_ others(189): Show c.38_39insAGGAGGGGAGGGTGGGAGGGGGGTGGGGGGAGGGTGGTGG GGAGGGGAGATGGGGGGGGTGGGGGAGTGGGGGGGGGGGGGTGGGAGGCG GGGGGGGGTGGGGAGGGTGGGCGTGGGGTGGGGTGCGTGGGGGGGGGGGG GGGGAGGGGGCGTGGCGAGGCTGGGCGCAGAGAGGCTGGGGCTG	p.Cys others(4): Show p.Cys13fs	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/10	72/1501	38/1140	13/379			chr3	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGG others(177): Show GGGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGTCAGCTGGG GCGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGCG GGGGGGGCGGGGGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGCGGGGG GGGCGGGGGGCGGGGGGGCGGGGGGGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0020 a0002c0004t0003g0020	1	221	0.0045	184	c.-95 others(193): Show c.-958_-957insGGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGG GGGGTCAGCTGGGGCGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGGCGG GGGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGCGGGGGGGGCGGGGGG CGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGCGGGGGGC		PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding					765		chrX	TogoVar
PATL1_chr11_59631716_59674037	59632736	T T	TATATCTA others(177): Show TATATCTATATATATATCTATATATATCTATATATATCTATATATATATC TATATATATCTATATATATCTATATATATCTATATATATATCTATATATA TCTATATATATATCATATATAGATATATATCTATATATATCTATATATAT ATCTATATATATCTATATATATATCTATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0198	1	276	0.0036	184	c.56 others(195): Show c.5653_*5654insGATATATATAGATATATATATAGATATATATAGA TATATATATAGATATATATAGATATATATCTATATATGATATATATATAG ATATATATAGATATATATATAGATATATATAGATATATATAGATATATAT AGATATATATATAGATATATATAGATATATATAGATATATATATAGATAT		PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding					3979		chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842829	T T	TATAGATG others(177): Show TATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	184	c.-26 others(195): Show c.-2641_-2640insCTATCGATAGATACATCTATCTATCTATCGATAG ATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGAT ACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATAC ATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTAT		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2175		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842829	T T	TATAGATG others(177): Show TATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 NA18972.hp2 HG02451.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	436	0.0046	184	c.-26 others(195): Show c.-2641_-2640insCTATCGATAGATACATCTATCTATCGATAGATAC ATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTAT CGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATAC ATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTAT		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2175		chr20	TogoVar
PCLO_chr7_82749012_83167884	82999857	T T	TTATATAT others(177): Show TTATATATAAAATATAATATGTAATATTATATATAAAATATAATATGTAA TATTATATATAAAATATAATATGTAATATTATATATAAAATATAATATGT AATATTATATATAAAATATAATATGTAATATTATATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0145 a0001c0004t0004g0145	1	188	0.0053	184	c.330 others(205): Show c.3301-33371_3301-33370insTAATATTACATATTATATTTTATA TATAATATTACATATTATATTTTATATATAATATTACATATTATATTTTA TATATAATATTACATATTATATTTTATATATAATATTACATATTATATTT TATATATAATATTACATATTATATTTTATATATAATATTACATATTATAT TTTATATATA		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PEBP4_chr8_22708251_22932914	22860226	A A	ATACACAT others(177): Show ATACACATATATATGTGTATATATATACACATATATATGTGTATATATAT ACACATATATATGTGTATATATATACACATATATATGTGTATATATATAC ACATATATATGTGTATATATATACACATATATATGTGTATATATATACAC ATATATATGTGTATATATATACACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0096 a0005c0006t0001g0096	1	278	0.0036	184	c.259 others(203): Show c.259-42492_259-42491insCACATATATATGTGTATATATATACA CATATATATGTGTATATATATACACATATATATGTGTATATATATACACA TATATATGTGTATATATATACACATATATATGTGTATATATATACACATA TATATGTGTATATATATACACATATATATGTGTATATATATACACATATA TATGTGTA		PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6						chr8	TogoVar
PER3_chr1_7779291_7850177	7803433	C C	CAAAAAAT others(177): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01255.hp1 HG02896.hp1 HG01168.hp1 HG01255.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0190 a0002c0002t0001g0009 a0002c0002t0001g0190	3	410	0.0073	184	c.980 others(199): Show c.980-254_980-253insATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX10_chr1_2398974_2417564	2401382	T T	TCCTCCCT others(177): Show TCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTC CTCCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTC CCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTC CTCCCTCCTTCCTCCCTCCTCCTCCCTCCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0127 a0001c0017t0001g0127	1	358	0.0028	184	c.43 others(195): Show c.4383_*4384insGAGGAAGGAGGGAGGAGGAGGGAGGAAGGAGGGA GGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGGAGGAAGGAG GGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGGGAGGAGGGGGAGGGA GGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAGAAGGGAGGAGGGAGG		PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding					2591		chr1	TogoVar
PGAM5_chr12_132705842_132727734	132718391	G G	GGTCCTGG others(177): Show GGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGC TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0155 a0001c0001t0007g0155	1	394	0.0025	184	c.719 others(199): Show c.719+277_719+278insGGTGGGGGGTCCTGGGTGGGGGGGTCCTGG GTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTG GGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGT GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT CCTG		PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718514	T T	TGTCCTGG others(177): Show TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT GCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGG GTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTG GGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	394	0.0025	184	c.719 others(199): Show c.719+516_719+517insTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGT GCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGG GTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTG GGGG		PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718531	G G	GTGCTGGG others(177): Show GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCT GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGG TGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGG GTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0068 a0001c0001t0006g0068	1	394	0.0025	184	c.719 others(199): Show c.719+502_719+503insATGCTGGGTGGGGGTGTCCTGGGTGGGGTG CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC TGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG GTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGG GTGC		PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3R1_chr5_68210756_68306821	68263008	T T	TATACATG others(177): Show TATACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATG CATGTAGATACATGTGTACATATATACATGTAGATGCATGTAGATACATG TGTACATATATACATGTAGATGCATGTAGATACATGTGTACATGTAGATA CATGTAGATGCATGTAGATACATGTATACATGTAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0061 a0002c0004t0061	a0002c0004t0061g0244 a0002c0004t0061g0244	1	308	0.0033	184	c.335 others(203): Show c.335-10370_335-10369insGCATGTAGATACATGTGTACATATAT ACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATGCAT GTAGATACATGTGTACATATATACATGTAGATGCATGTAGATACATGTGT ACATGTAGATACATGTAGATGCATGTAGATACATGTATACATGTAGATAC ATGTAGAT		PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr5	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCTC others(177): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0076 a0002c0005t0004g0076	1	134	0.0075	184	c.575 others(205): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAG		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66						chr6	TogoVar
PKP3_chr11_389209_409908	401629	G G	GACCCGCT others(177): Show GACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01256.hp1 HG01943.hp2 others(2): Show HG00673.hp1 HG01256.hp1 HG01943.hp2 NA18970.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0149 a0001c0003t0001g0152 a0001c0003t0001g0155 others(2): Show a0001c0003t0001g0149 a0001c0003t0001g0152 a0001c0003t0001g0155 a0001c0003t0001g0159 a0001c0003t0001g0160	5	216	0.0232	184	c.173 others(201): Show c.1737+924_1737+925insACCCGCTCACCCCCGGCCCCGCTCACCC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTC ACACCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP3_chr11_389209_409908	402351	G G	GCCCCGCT others(177): Show GCCCCGCTCACCCCCGACCCGCTCACACCCGGCCCCGCTCACCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCGCT CACCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCACCC GGGACCCCGCTCACACCCGCCCCGCTCACCCCGGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02683.hp1 HG00642.hp1 HG02683.hp1	a0001 a0017 a0001 a0017	a0001c0004 a0017c0040 a0001c0004 a0017c0040	a0001c0004t0001 a0017c0040t0001 a0001c0004t0001 a0017c0040t0001	a0001c0004t0001g0080 a0017c0040t0001g0163 a0001c0004t0001g0080 a0017c0040t0001g0163	2	216	0.0093	184	c.173 others(201): Show c.1738-712_1738-711insACCCGCTCACACCCGGCCCCGCTCACCC CGGCCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGA CCCGCTCACCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGC TCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCA CCCCCG		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCH1_chr3_155474881_155750071	155667902	T T	TAAAAAAA others(177): Show TAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCCAGGAGTGGT GGCGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGATAATTG CTTGAACCCAGGAGGCAGAGCTTGCAATGAGCCAAGTTTGCACCACTGCA CTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02257.hp2 HG01978.hp1 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0235 a0001c0003t0001g0088 a0001c0003t0001g0235	2	264	0.0076	184	c.79+ others(201): Show c.79+36243_79+36244insTGAGATGGAGTCTTGCTCTGTCACCCAG GCTGGAGTGCAGTGGTGCAAACTTGGCTCATTGCAAGCTCTGCCTCCTGG GTTCAAGCAATTATCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGC ACACGCCACCACTCCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTT TTTTTT		PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	2/22						chr3	TogoVar
PLCH1_chr3_155474881_155750071	155668084	C C	CAAAAAAA others(177): Show CAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCCAGGAGTGGT GGCGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGATAATTG CTTGAACCCAGGAGGCAGAGCTTGCAATGAGCCAAGTTTGCACCACTGCA CTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0019 a0001c0022t0003g0019	1	264	0.0038	184	c.79+ others(201): Show c.79+36061_79+36062insTGAGATGGAGTCTTGCTCTGTCACCCAG GCTGGAGTGCAGTGGTGCAAACTTGGCTCATTGCAAGCTCTGCCTCCTGG GTTCAAGCAATTATCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGC ACACGCCACCACTCCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTT TTTTTT		PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	2/22						chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(177): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18942.hp2 NA18955.hp2 others(6): Show HG02027.hp2 NA18942.hp2 NA18955.hp2 NA18992.hp2 NA18993.hp1 NA19007.hp1 NA19060.hp1 NA19070.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0001 a0001c0016t0001 a0001c0002t0001 a0001c0016t0001	a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0055 others(6): Show a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0105 a0001c0016t0001g0050	9	250	0.0360	184	c.309 others(203): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT GCCTGCCT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLD5_chr1_242077986_242529697	242394804	A A	ATATGAAT others(177): Show ATATGAATATATATGAATATATGTATATATATGATTATATATGATATATA TATGAATATATATGTATATATGTATACATTATATGAATATATATGATTAT ATATGAATATATATGATTATATATGAATATATATGATTATATAAATATAT ATGAATATATATGAATATATATGAATATATATGAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02615.hp2 others(5): Show HG02145.hp1 HG02258.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0003 a0001c0002t0024 a0001c0002t0069	a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0014g0179 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0014g0179 a0001c0001t0014g0185 a0001c0001t0014g0186 a0001c0002t0003g0143 a0001c0002t0024g0150 a0001c0002t0069g0129	8	188	0.0426	184	c.190 others(203): Show c.190-46563_190-46562insATCATATATATTCATATATATTCATA TATATTCATATATATTTATATAATCATATATATTCATATATAATCATATA TATTCATATATAATCATATATATTCATATAATGTATACATATATACATAT ATATTCATATATATATCATATATAATCATATATATACATATATTCATATA TATTCATA		PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9						chr1	TogoVar

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