Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
POU1F1_chr3_87254404_87281584	87260868	TTTTTTTT others(5): Show TTTTTTTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp2 HG01358.hp2 others(28): Show HG01081.hp2 HG01346.hp2 HG01358.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02015.hp2 HG02109.hp1 HG02523.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18965.hp1 NA19002.hp1 NA19043.hp2 NA19057.hp2 NA19077.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0073 others(20): Show a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0126 a0001c0001t0001g0163 a0001c0001t0002g0036 a0001c0001t0002g0080 a0001c0001t0002g0108 a0001c0001t0002g0130 a0001c0001t0003g0094 a0001c0001t0003g0144 a0001c0001t0003g0148 a0001c0001t0003g0157 a0001c0001t0004g0048 a0001c0001t0004g0159 a0001c0001t0006g0037 a0001c0001t0006g0103 a0001c0001t0007g0061 a0001c0001t0010g0105	31	420	0.0738	-12	c.665 others(27): Show c.665+393_665+404delTAAATAAAAAAA		POU1F1	ENSG00000064835.12	transcript	ENST00000350375.7	protein_coding	5/5						chr3	TogoVar
POU2AF1_chr11_111347255_111384275	111352993	AGAAGGAA others(5): Show AGAAGGAAGGAAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp2 HG02300.hp2 NA18612.hp1 others(3): Show HG02132.hp2 HG02300.hp2 NA18612.hp1 NA18946.hp2 NA19005.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0013 a0001c0001t0017g0148 a0001c0001t0017g0152 others(1): Show a0001c0001t0017g0013 a0001c0001t0017g0148 a0001c0001t0017g0152 a0001c0001t0017g0261	6	384	0.0156	-12	c.12 others(23): Show c.1256_*1267delCTTCCTTCCTTC		POU2AF1	ENSG00000110777.12	transcript	ENST00000393067.8	protein_coding	5/5				1256		chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111261260	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	380	0.0026	-12	c.120 others(29): Show c.120+5190_120+5201delCACACACACACA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111264491	CGAAAGAA others(5): Show CGAAAGAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp2 HG02165.hp2 others(11): Show HG00408.hp1 HG01168.hp2 HG02165.hp2 HG02257.hp1 HG02723.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG04204.hp2 NA19006.hp1 NA19007.hp1 NA19054.hp1 NA19066.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0012 a0001c0001t0003g0013 a0001c0001t0003g0152 others(11): Show a0001c0001t0001g0012 a0001c0001t0003g0013 a0001c0001t0003g0152 a0001c0001t0003g0167 a0001c0001t0003g0209 a0001c0001t0003g0216 a0001c0001t0003g0223 a0001c0001t0003g0237 a0001c0001t0004g0095 a0001c0001t0004g0099 a0001c0001t0004g0129 a0001c0001t0004g0132 a0001c0001t0004g0141 a0001c0001t0007g0222	14	380	0.0368	-12	c.120 others(29): Show c.120+8473_120+8484delAAAGAAAGAAAG		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111264565	AAAGAAAG others(5): Show AAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03453.hp1 HG03579.hp1 others(1): Show HG01891.hp2 HG03453.hp1 HG03579.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0004c0005t0001 a0001c0001t0001 a0001c0001t0004 a0004c0005t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0004g0096 others(1): Show a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0004g0096 a0004c0005t0001g0089	4	380	0.0105	-12	c.120 others(29): Show c.120+8474_120+8485delAAGAAAGAAAGG		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4						chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111268527	ATTTTATT others(5): Show ATTTTATTTTATT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp1 HG02922.hp1 others(3): Show HG02647.hp2 HG02896.hp1 HG02922.hp1 HG03453.hp2 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0213 a0001c0001t0001g0373 a0001c0001t0002g0138 others(3): Show a0001c0001t0001g0213 a0001c0001t0001g0373 a0001c0001t0002g0138 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0277	6	380	0.0158	-12	c.120 others(31): Show c.120+12438_120+12449delTTATTTTATTTT		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276447	AAAAAAAA others(5): Show AAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0089 a0004c0005t0001g0089	1	380	0.0026	-12	c.121 others(29): Show c.121-4949_121-4938delAAAAAATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276449	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	380	0.0026	-12	c.121 others(29): Show c.121-4947_121-4936delAAAATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276451	AAAATATA others(5): Show AAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 HG03579.hp1 others(3): Show HG01891.hp2 HG02970.hp2 HG03579.hp1 NA18941.hp2 NA18985.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0070 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250	6	380	0.0158	-12	c.121 others(29): Show c.121-4945_121-4934delAATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	380	0.0026	-12	c.121 others(29): Show c.121-4926_121-4915delATATATATATAT		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111278556	GTCTCTCT others(5): Show GTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00609.hp1 others(64): Show HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02132.hp2 HG02293.hp2 HG02523.hp1 HG02602.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18941.hp2 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18956.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18970.hp2 NA18983.hp2 NA18985.hp2 NA18987.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp2 NA19076.hp1 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 others(64): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0048 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0116 a0001c0001t0002g0137	67	380	0.1763	-12	c.121 others(29): Show c.121-2821_121-2810delTCTCTCTCTCTC		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280518	ACTCTGTG others(5): Show ACTCTGTGCTGCC	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	380	0.0026	-12	c.121 others(27): Show c.121-878_121-867delTCTGTGCTGCCC		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF3_chr11_111293546_111313735	111308995	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG00741.hp2 others(36): Show HG00597.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01978.hp2 HG02027.hp2 HG02074.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02647.hp1 HG02809.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp2 HG03491.hp2 NA18747.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18960.hp1 NA18978.hp1 NA18979.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp2 NA19003.hp1 NA19007.hp2 NA19074.hp1 NA19077.hp2 NA20805.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0005c0007	a0001c0001t0001 a0001c0002t0001 a0003c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0003c0005t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0071 a0001c0002t0001g0002 a0003c0005t0001g0059 a0005c0007t0001g0001	39	468	0.0833	-12	c.55 others(21): Show c.559_*570delAAAAAAAAAAAA		POU2AF3	ENSG00000214290.9	transcript	ENST00000610738.6	protein_coding					261		chr11	TogoVar
POU2F1_chr1_167215886_167432340	167351532	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG03195.hp1 others(2): Show HG02258.hp1 HG02280.hp1 HG03195.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0026 a0001c0001t0060 others(1): Show a0001c0001t0003 a0001c0001t0026 a0001c0001t0060 a0001c0003t0061	a0001c0001t0003g0116 a0001c0001t0026g0113 a0001c0001t0026g0114 others(2): Show a0001c0001t0003g0116 a0001c0001t0026g0113 a0001c0001t0026g0114 a0001c0001t0060g0115 a0001c0003t0061g0007	5	292	0.0171	-12	c.128 others(31): Show c.128-13931_128-13920delAAAAAAAAGAAA		POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
POU2F1_chr1_167215886_167432340	167351540	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0250 a0001c0001t0004g0250	1	292	0.0034	-12	c.128 others(31): Show c.128-13923_128-13912delGAAAGAAAGAAA		POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
POU2F1_chr1_167215886_167432340	167357367	CACCCCCC others(5): Show CACCCCCCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp1 HG02559.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0055 a0001c0001t0010 a0001c0001t0055	a0001c0001t0010g0096 a0001c0001t0055g0002 a0001c0001t0010g0096 a0001c0001t0055g0002	2	292	0.0069	-12	c.128 others(29): Show c.128-8099_128-8088delACCCCCCCCCCA		POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15						chr1	TogoVar
POU2F3_chr11_120235140_120324945	120261160	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp1 HG02809.hp2 others(4): Show HG02055.hp1 HG02615.hp1 HG02809.hp2 HG02976.hp2 HG03225.hp1 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0001 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0005 a0001c0001t0001g0160 a0001c0001t0001g0204 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0160 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0005g0203 a0001c0001t0008g0066	7	320	0.0219	-12	c.98- others(27): Show c.98-8024_98-8013delGTGTGTGTGTGT		POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120274096	GAAGGAAG others(5): Show GAAGGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02896.hp1 NA21309.hp2 HG01192.hp2 HG02896.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 a0001c0001t0001 a0001c0001t0008 a0002c0002t0001	a0001c0001t0001g0160 a0001c0001t0008g0202 a0002c0002t0001g0082 a0001c0001t0001g0160 a0001c0001t0008g0202 a0002c0002t0001g0082	3	320	0.0094	-12	c.132 others(29): Show c.132+4864_132+4875delAAAGGAAGGAAG		POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120274108	AAAGGAAG others(5): Show AAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03139.hp2 HG03453.hp2 others(1): Show HG02109.hp2 HG03139.hp2 HG03453.hp2 NA18979.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0010 a0003c0003t0009 a0001c0001t0005 a0001c0001t0010 a0003c0003t0009	a0001c0001t0005g0259 a0001c0001t0010g0245 a0001c0001t0010g0260 others(1): Show a0001c0001t0005g0259 a0001c0001t0010g0245 a0001c0001t0010g0260 a0003c0003t0009g0014	4	320	0.0125	-12	c.132 others(29): Show c.132+4903_132+4914delGGAAGGAAGGAA		POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120308938	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18906.hp1 HG01106.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0001 a0001c0001t0010 a0002c0002t0001	a0001c0001t0010g0056 a0002c0002t0001g0224 a0001c0001t0010g0056 a0002c0002t0001g0224	2	320	0.0063	-12	c.907 others(27): Show c.907-460_907-449delAAAAAAAAAAAA		POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120320521	GTATATAT others(5): Show GTATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	320	0.0031	-12	c.21 others(23): Show c.2130_*2141delTATATATATATA		POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding					577		chr11	TogoVar
POU3F1_chr1_38038829_38051793	38050255	GCACACAC others(5): Show GCACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02109.hp1 others(2): Show HG01109.hp1 HG02055.hp1 HG02109.hp1 HG02809.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0027	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0009g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0009g0000 a0001c0001t0027g0000	5	390	0.0128	-12	c.-35 others(23): Show c.-3524_-3513delTGTGTGTGTGTG		POU3F1	ENSG00000185668.8	transcript	ENST00000373012.5	protein_coding					3463		chr1	TogoVar
POU3F3_chr2_104849115_104863574	104863159	AATTATTA others(5): Show AATTATTATTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02630.hp2 others(2): Show HG00438.hp1 HG00438.hp2 HG02630.hp2 HG02717.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0002g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0002g0000	5	406	0.0123	-12	c.61 others(23): Show c.6147_*6158delATTATTATTATT		POU3F3	ENSG00000198914.5	transcript	ENST00000361360.4	protein_coding					4586		chr2	TogoVar
POU4F2_chr4_146633893_146647474	146637527	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	414	0.0024	-12	c.-16 others(23): Show c.-1613_-1602delGTGTGTGTGTGT		POU4F2	ENSG00000151615.3	transcript	ENST00000281321.3	protein_coding					1365		chr4	TogoVar
POU4F2_chr4_146633893_146647474	146639305	TGGCGGCG others(5): Show TGGCGGCGGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01993.hp2 HG01993.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0001 a0014c0014t0001g0001	1	414	0.0024	-12	c.189 others(19): Show c.189_200delCGGCGGCGGCGG	p.Gly others(11): Show p.Gly64_Gly67del	POU4F2	ENSG00000151615.3	transcript	ENST00000281321.3	protein_coding	1/2	437/3144	189/1230	63/409		INFO_REALIGN_3_PRIME	chr4	TogoVar
POU4F2_chr4_146633893_146647474	146640283	GGCCCACG others(5): Show GGCCCACGCGCAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01346.hp2 HG01346.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0002 a0013c0016t0001g0002	1	414	0.0024	-12	c.707 others(19): Show c.707_718delCCCACGCGCACG	p.Ala others(13): Show p.Ala236_His239del	POU4F2	ENSG00000151615.3	transcript	ENST00000281321.3	protein_coding	2/2	955/3144	707/1230	236/409		INFO_REALIGN_3_PRIME	chr4	TogoVar
POU4F2_chr4_146633893_146647474	146643042	CCTCTCTC others(5): Show CCTCTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(30): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG01074.hp1 HG01109.hp1 HG01256.hp1 HG01433.hp1 HG01934.hp2 HG01943.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02818.hp2 HG02965.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 NA18612.hp1 NA18747.hp1 NA18946.hp2 NA18951.hp2 NA18959.hp2 NA18978.hp1 NA18988.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp2 NA19002.hp1 NA19006.hp2 NA19066.hp1 NA19070.hp2 NA19087.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0010 a0001c0001 a0002c0002 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0002c0002t0006 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0005g0001 others(3): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0005g0001 a0002c0002t0001g0002 a0002c0002t0006g0002 a0007c0010t0001g0001	33	414	0.0797	-12	c.22 others(23): Show c.2235_*2246delCTCTCTCTCTCT		POU4F2	ENSG00000151615.3	transcript	ENST00000281321.3	protein_coding					569		chr4	TogoVar
POU4F3_chr5_146333839_146346728	146346458	TACACACA others(5): Show TACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02630.hp1 NA19043.hp1 HG02615.hp2 HG02630.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0004 a0001c0001t0013 a0001c0002t0004	a0001c0001t0013g0001 a0001c0002t0004g0001 a0001c0001t0013g0001 a0001c0002t0004g0001	3	352	0.0085	-12	c.60 others(23): Show c.6015_*6026delACACACACACAC		POU4F3	ENSG00000091010.6	transcript	ENST00000646991.2	protein_coding					4731		chr5	TogoVar
POU5F1_chr6_31159337_31175682	31170796	TAATGGTG others(5): Show TAATGGTGGTGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03471.hp1 HG06807.hp2 HG02109.hp1 HG03471.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	3	445	0.0067	-12	c.-18 others(21): Show c.-188_-177delGCCACCACCATT		POU5F1	ENSG00000204531.21	transcript	ENST00000259915.13	protein_coding					115		chr6	TogoVar
POU6F1_chr12_51181936_51223062	51219237	TATTTATA others(5): Show TATTTATAATGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0351 a0001c0001t0012g0351	1	440	0.0023	-12	c.-16 others(23): Show c.-1655_-1644delGTCATTATAAAT		POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding					1176		chr12	TogoVar
POU6F2_chr7_38972909_39473601	38991847	TCTCTCTC others(5): Show TCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02976.hp2 HG03516.hp2 HG01433.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0002t0001g0050 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0002t0001g0050	3	170	0.0177	-12	c.105 others(31): Show c.105+13799_105+13810delTCCCTCTCTCTC		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39015353	TATATATT others(5): Show TATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0160 a0007c0011t0001g0160	1	170	0.0059	-12	c.105 others(31): Show c.105+37305_105+37316delATAATATATTAT		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39030500	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp2 HG02647.hp2 others(3): Show HG00735.hp2 HG01255.hp2 HG02647.hp2 HG02976.hp2 HG03516.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001	a0001c0001t0002g0121 a0001c0001t0002g0139 a0001c0001t0004g0049 others(3): Show a0001c0001t0002g0121 a0001c0001t0002g0139 a0001c0001t0004g0049 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0002t0001g0050	6	170	0.0353	-12	c.105 others(31): Show c.105+52475_105+52486delTATATATATATA		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39071654	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG03041.hp2 others(2): Show HG01243.hp2 HG02451.hp1 HG03041.hp2 HG03486.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0029 a0002c0003t0001 a0001c0005t0029 a0002c0003t0001	a0001c0005t0029g0098 a0002c0003t0001g0054 a0002c0003t0001g0055 others(2): Show a0001c0005t0029g0098 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0057 a0002c0003t0001g0058	5	170	0.0294	-12	c.106 others(31): Show c.106-14172_106-14161delCACACACACACA		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39082794	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02976.hp1 others(1): Show HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0013 a0001c0002t0001 a0001c0005t0013	a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0005t0013g0080 others(1): Show a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0005t0013g0080 a0001c0005t0013g0081	4	170	0.0235	-12	c.106 others(29): Show c.106-3035_106-3024delCACACACACACA		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39087143	TATTAATT others(5): Show TATTAATTAATTA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG02647.hp2 HG02896.hp2 HG02897.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0005t0013 a0001c0001t0002 a0001c0001t0005 a0001c0005t0013	a0001c0001t0002g0139 a0001c0001t0005g0033 a0001c0005t0013g0080 others(1): Show a0001c0001t0002g0139 a0001c0001t0005g0033 a0001c0005t0013g0080 a0001c0005t0013g0081	4	170	0.0235	-12	c.277 others(29): Show c.277+1120_277+1131delAATTAATTAATT		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39185803	ATATATGT others(5): Show ATATATGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp2 HG02080.hp2 others(13): Show HG00621.hp2 HG01109.hp2 HG02080.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02738.hp2 HG02965.hp2 HG03098.hp1 HG03195.hp1 HG03516.hp1 NA18955.hp2 NA19030.hp2 NA19084.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0002c0006 a0002c0008 a0003c0012 a0004c0016 a0007c0011 a0008c0017 a0009c0015	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0005t0011 a0002c0003t0001 a0002c0004t0003 a0002c0006t0001 a0002c0008t0016 a0003c0012t0020 a0004c0016t0001 a0007c0011t0001 a0008c0017t0011 a0009c0015t0001	a0001c0001t0002g0059 a0001c0001t0002g0136 a0001c0001t0002g0139 others(13): Show a0001c0001t0002g0059 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0004g0001 a0001c0001t0008g0062 a0001c0002t0001g0091 a0001c0005t0011g0060 a0002c0003t0001g0146 a0002c0004t0003g0075 a0002c0006t0001g0013 a0002c0008t0016g0157 a0003c0012t0020g0021 a0004c0016t0001g0092 a0007c0011t0001g0160 a0008c0017t0011g0150 a0009c0015t0001g0026	16	170	0.0941	-12	c.278 others(31): Show c.278-18392_278-18381delATGTATATGTAT		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39185843	ATGTATAT others(5): Show ATGTATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01255.hp1 others(21): Show HG00621.hp1 HG00735.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp1 HG02071.hp2 HG02280.hp2 HG03195.hp2 HG03834.hp1 HG04184.hp1 NA18945.hp1 NA18950.hp2 NA18964.hp1 NA18966.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19080.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0004 a0002c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0032 a0001c0002t0001 a0001c0007t0001 a0002c0003t0001 a0002c0004t0002 a0002c0004t0024 a0002c0006t0001	a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0085 others(21): Show a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0097 a0001c0001t0002g0104 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0161 a0001c0001t0003g0096 a0001c0001t0005g0032 a0001c0001t0032g0164 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0111 a0001c0007t0001g0069 a0001c0007t0001g0071 a0002c0003t0001g0112 a0002c0004t0002g0108 a0002c0004t0002g0113 a0002c0004t0002g0127 a0002c0004t0024g0103 a0002c0006t0001g0100 a0002c0006t0001g0163	24	170	0.1412	-12	c.278 others(31): Show c.278-18384_278-18373delGTATGTGTATAT		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39185903	ATATATGT others(5): Show ATATATGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01074.hp2 others(22): Show HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01192.hp1 HG01261.hp2 HG02071.hp1 HG02083.hp2 HG02148.hp1 HG02293.hp1 HG02965.hp1 HG03017.hp2 HG03139.hp2 HG03540.hp2 HG03654.hp1 HG04184.hp2 NA18950.hp1 NA18955.hp1 NA18983.hp1 NA18984.hp2 NA19005.hp1 NA19009.hp2 NA19080.hp2 NA19084.hp2 NA19087.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0002c0004 a0002c0006 a0002c0008 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0007t0001 a0001c0007t0003 a0001c0007t0010 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0006t0001 a0002c0008t0006 a0002c0008t0030 a0003c0009t0017 a0003c0009t0018	a0001c0001t0001g0035 a0001c0001t0002g0030 a0001c0001t0002g0074 others(22): Show a0001c0001t0001g0035 a0001c0001t0002g0030 a0001c0001t0002g0074 a0001c0001t0005g0033 a0001c0001t0009g0158 a0001c0001t0023g0077 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0126 a0001c0002t0001g0170 a0001c0002t0002g0028 a0001c0002t0014g0036 a0001c0007t0001g0069 a0001c0007t0001g0071 a0001c0007t0001g0073 a0001c0007t0003g0083 a0001c0007t0010g0044 a0002c0004t0001g0072 a0002c0004t0002g0127 a0002c0004t0003g0009 a0002c0006t0001g0076 a0002c0008t0006g0070 a0002c0008t0030g0051 a0003c0009t0017g0046 a0003c0009t0018g0045	25	170	0.1471	-12	c.278 others(31): Show c.278-18320_278-18309delGTATATGTATAT		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39190417	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02300.hp1 HG02698.hp1 HG00639.hp2 HG02300.hp1 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0002c0004t0002 a0001c0001t0002 a0001c0001t0003 a0002c0004t0002	a0001c0001t0002g0038 a0001c0001t0003g0039 a0002c0004t0002g0037 a0001c0001t0002g0038 a0001c0001t0003g0039 a0002c0004t0002g0037	3	170	0.0177	-12	c.278 others(31): Show c.278-13800_278-13789delAAAAAAAAAAAA		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39278098	AGGGAGGG others(5): Show AGGGAGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00621.hp2 others(74): Show HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03654.hp1 HG03704.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18964.hp2 NA18966.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0002c0004 a0002c0006 a0002c0008 a0005c0010 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0029 a0001c0007t0001 a0001c0007t0003 a0001c0007t0010 a0002c0003t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0024 a0002c0006t0001 a0002c0008t0006 a0002c0008t0016 a0002c0008t0030 a0005c0010t0022 a0006c0013t0006	a0001c0001t0001g0035 a0001c0001t0001g0165 a0001c0001t0002g0020 others(74): Show a0001c0001t0001g0035 a0001c0001t0001g0165 a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0128 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0003g0039 a0001c0001t0004g0024 a0001c0001t0004g0047 a0001c0001t0005g0023 a0001c0001t0005g0033 a0001c0001t0005g0065 a0001c0001t0009g0123 a0001c0001t0023g0077 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0084 a0001c0002t0001g0102 a0001c0002t0001g0117 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0154 a0001c0002t0001g0170 a0001c0002t0002g0028 a0001c0002t0002g0105 a0001c0005t0001g0151 a0001c0005t0029g0098 a0001c0007t0001g0069 a0001c0007t0001g0071 a0001c0007t0003g0083 a0001c0007t0010g0044 a0002c0003t0001g0025 a0002c0003t0001g0116 a0002c0003t0001g0133 a0002c0004t0001g0072 a0002c0004t0002g0011 a0002c0004t0002g0022 a0002c0004t0002g0037 a0002c0004t0002g0078 a0002c0004t0002g0101 a0002c0004t0002g0108 a0002c0004t0002g0113 a0002c0004t0002g0127 a0002c0004t0002g0153 a0002c0004t0003g0009 a0002c0004t0003g0075 a0002c0004t0003g0132 a0002c0004t0024g0103 a0002c0006t0001g0010 a0002c0006t0001g0013 a0002c0006t0001g0019 a0002c0006t0001g0076 a0002c0006t0001g0086 a0002c0006t0001g0100 a0002c0006t0001g0134 a0002c0006t0001g0163 a0002c0006t0001g0166 a0002c0008t0006g0070 a0002c0008t0006g0137 a0002c0008t0006g0152 a0002c0008t0016g0157 a0002c0008t0030g0051 a0005c0010t0022g0167 a0006c0013t0006g0017	77	170	0.4529	-12	c.599 others(31): Show c.599-61532_599-61521delGGGGAGGGAGGG		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39297196	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	170	0.0059	-12	c.599 others(31): Show c.599-42416_599-42405delCACACACACACA		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39412778	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03098.hp2 NA19009.hp2 HG02080.hp1 HG03098.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0002t0015 a0001c0007t0001 a0001c0001t0002 a0001c0002t0015 a0001c0007t0001	a0001c0001t0002g0068 a0001c0002t0015g0148 a0001c0007t0001g0069 a0001c0001t0002g0068 a0001c0002t0015g0148 a0001c0007t0001g0069	3	170	0.0177	-12	c.111 others(31): Show c.1113+6068_1113+6079delTTTTTTTTTTTT		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39454655	GATATATA others(5): Show GATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02257.hp1 HG02647.hp2 others(3): Show HG01361.hp1 HG02257.hp1 HG02647.hp2 HG03654.hp2 NA18984.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0023 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0023 a0001c0002t0001 a0001c0005t0031	a0001c0001t0002g0053 a0001c0001t0002g0121 a0001c0001t0002g0139 others(3): Show a0001c0001t0002g0053 a0001c0001t0002g0121 a0001c0001t0002g0139 a0001c0001t0023g0077 a0001c0002t0001g0129 a0001c0005t0031g0124	6	170	0.0353	-12	c.148 others(31): Show c.1489+3016_1489+3027delTATATATATATA		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
PP2D1_chr3_19980346_20017264	19995975	AATAGGGA others(5): Show AATAGGGAAATTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0213 a0002c0002t0005g0213	1	396	0.0025	-12	c.109 others(31): Show c.1090+5043_1090+5054delAAATTTCCCTAT		PP2D1	ENSG00000183977.14	transcript	ENST00000389050.5	protein_coding	2/2						chr3	TogoVar
PP2D1_chr3_19980346_20017264	20012956	GTATATAT others(5): Show GTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01071.hp2 others(11): Show HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01978.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02818.hp1 HG02970.hp2 HG03486.hp2 HG04204.hp2 NA19240.hp1 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0001 a0009c0009t0001 a0001c0001t0001 a0009c0009t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0131 others(7): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0009c0009t0001g0132	14	396	0.0354	-12	c.-89 others(21): Show c.-896_-885delTATATATATATA		PP2D1	ENSG00000183977.14	transcript	ENST00000389050.5	protein_coding					693		chr3	TogoVar
PPA1_chr10_70197835_70238429	70220990	AATTTATA others(5): Show AATTTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	408	0.0025	-12	c.124 others(29): Show c.124-2185_124-2174delATATATATAAAT		PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10						chr10	TogoVar
PPA2_chr4_105364077_105479062	105366154	TGTTGAGC others(5): Show TGTTGAGCCTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 NA18975.hp1 HG02523.hp2 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0249 a0002c0002t0001g0227 a0002c0002t0001g0249	2	366	0.0055	-12	c.35 others(23): Show c.3559_*3570delCCCAGGCTCAAC		PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding					2922		chr4	TogoVar
PPA2_chr4_105364077_105479062	105374851	CTTTTTTC others(5): Show CTTTTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	366	0.0027	-12	c.940 others(29): Show c.940-3990_940-3979delAAAAAGAAAAAA		PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	10/11						chr4	TogoVar
PPA2_chr4_105364077_105479062	105393485	AAATAATA others(5): Show AAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01081.hp1 others(17): Show HG00639.hp1 HG00741.hp2 HG01081.hp1 HG01361.hp2 HG01981.hp2 HG02004.hp1 HG02080.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02698.hp1 HG02723.hp2 HG02922.hp2 HG02976.hp1 HG03239.hp2 NA18955.hp1 NA18970.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0005c0005t0001	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 others(17): Show a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0296 a0002c0002t0001g0230 a0002c0002t0001g0274 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0044 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0003t0001g0340 a0002c0003t0001g0345 a0002c0003t0001g0352 a0005c0005t0001g0009	20	366	0.0546	-12	c.869 others(29): Show c.869+2752_869+2763delATTATTATTATT		PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	9/11						chr4	TogoVar

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