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
DIAPH2_chrX_96679842_97609997	97185329	A A	ATATATAT others(1): Show ATATATATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0146 a0001c0001t0020g0146	1	147	0.0068	8	c.271 others(29): Show c.2719+43542_2719+43543insGTATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185353	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	147	0.0068	8	c.271 others(29): Show c.2719+43560_2719+43561insATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185451	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	147	0.0068	8	c.271 others(29): Show c.2719+43658_2719+43659insATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185465	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20752.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0109 a0001c0001t0015g0144 a0001c0001t0002g0109 a0001c0001t0015g0144	2	147	0.0136	8	c.271 others(29): Show c.2719+43672_2719+43673insGTGTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185474	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA21309.hp1 HG01943.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0122 a0001c0001t0001g0010 a0001c0001t0001g0122	2	147	0.0136	8	c.271 others(29): Show c.2719+43719_2719+43726dupATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185481	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18952.hp1 NA18943.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0080 a0001c0001t0002g0064 a0001c0001t0002g0080	2	147	0.0136	8	c.271 others(29): Show c.2719+43688_2719+43689insGTGTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97187281	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG01515.hp1 others(10): Show HG00642.hp1 HG01261.hp1 HG01515.hp1 HG01928.hp1 HG01952.hp1 HG01981.hp2 HG02145.hp1 HG02922.hp1 HG04228.hp1 NA18906.hp1 NA18961.hp1 NA18984.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0003	a0001c0001t0001g0063 a0001c0001t0001g0120 a0001c0001t0001g0127 others(10): Show a0001c0001t0001g0063 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0001t0002g0065 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0003g0107 a0001c0001t0005g0105 a0001c0003t0003g0081 a0001c0003t0003g0145	13	147	0.0884	8	c.271 others(29): Show c.2719+45503_2719+45510dupTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97193010	T T	TTTCTTTT others(1): Show TTTCTTTTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0070 a0001c0001t0023g0070	1	147	0.0068	8	c.271 others(29): Show c.2719+51217_2719+51218insTCTTTTCT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97198265	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02145.hp1 HG02809.hp2 others(5): Show HG01081.hp2 HG02145.hp1 HG02809.hp2 HG02922.hp2 HG03471.hp1 NA18906.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 others(4): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001	a0001c0001t0003g0084 a0001c0001t0011g0001 a0001c0001t0018g0083 others(5): Show a0001c0001t0003g0084 a0001c0001t0011g0001 a0001c0001t0018g0083 a0001c0002t0004g0013 a0001c0003t0001g0136 a0001c0003t0003g0081 a0001c0003t0003g0145 a0001c0004t0001g0140	8	147	0.0544	8	c.272 others(29): Show c.2720-49418_2720-49411dupCACACACA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97199227	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03540.hp2 HG02486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0025 a0001c0001t0012g0003 a0001c0001t0003g0025 a0001c0001t0012g0003	2	147	0.0136	8	c.272 others(29): Show c.2720-48478_2720-48471dupGTGTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97253293	A A	AAAAAAAA others(1): Show AAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	147	0.0068	8	c.284 others(27): Show c.2844+5458_2844+5459insAAATAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97263900	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG01071.hp2 others(40): Show HG00609.hp1 HG00642.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02132.hp1 HG02647.hp1 HG02809.hp1 HG02965.hp1 HG03490.hp1 HG04115.hp1 HG04199.hp1 NA18940.hp1 NA18945.hp1 NA18948.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18994.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19070.hp1 NA19091.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0005t0001 a0001c0007t0005	a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0035 others(40): Show a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0121 a0001c0001t0002g0030 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0006g0005 a0001c0001t0007g0049 a0001c0001t0009g0036 a0001c0001t0012g0143 a0001c0001t0016g0125 a0001c0001t0017g0086 a0001c0001t0018g0083 a0001c0001t0019g0102 a0001c0001t0020g0146 a0001c0005t0001g0061 a0001c0007t0005g0131	43	147	0.2925	8	c.284 others(29): Show c.2844+16093_2844+16100dupATTTATTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97274006	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0086 a0001c0001t0017g0086	1	147	0.0068	8	c.284 others(29): Show c.2844+26208_2844+26215dupGTGTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97290074	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0143 a0001c0001t0012g0143	1	147	0.0068	8	c.284 others(29): Show c.2844+42251_2844+42258dupTATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97300931	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01981.hp2 NA18962.hp1 HG00642.hp1 HG01981.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0073 a0001c0001t0002g0135 a0001c0001t0005g0105 a0001c0001t0001g0073 a0001c0001t0002g0135 a0001c0001t0005g0105	3	147	0.0204	8	c.284 others(29): Show c.2845-47158_2845-47151dupAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97330085	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG02738.hp1 others(1): Show HG00738.hp1 HG01433.hp1 HG02738.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0020 a0001c0001t0001g0057 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0057 a0001c0001t0001g0082 a0001c0001t0006g0056	4	147	0.0272	8	c.284 others(29): Show c.2845-18011_2845-18004dupGTGTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97334472	A A	AAAAAAAA others(1): Show AAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp1 HG01081.hp2 others(8): Show HG00140.hp1 HG00673.hp1 HG01081.hp2 HG01515.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02809.hp1 NA18943.hp1 NA18952.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018	a0001c0001t0001g0037 a0001c0001t0001g0132 a0001c0001t0002g0017 others(8): Show a0001c0001t0001g0037 a0001c0001t0001g0132 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0039 a0001c0001t0002g0064 a0001c0001t0002g0080 a0001c0001t0002g0139 a0001c0001t0006g0005 a0001c0001t0007g0101 a0001c0001t0018g0083	11	147	0.0748	8	c.284 others(29): Show c.2845-13638_2845-13637insACAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97334472	A A	ACAAAAAA others(1): Show ACAAAAAAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0143 a0001c0001t0012g0143	1	147	0.0068	8	c.284 others(29): Show c.2845-13644_2845-13643insCAAAAAAC	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97402207	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 NA19004.hp1 HG01069.hp1 HG01071.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0001g0048 a0001c0001t0002g0008 a0001c0001t0002g0009	3	147	0.0204	8	c.314 others(29): Show c.3145+18186_3145+18193dupGTGTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	25/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97417375	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0146 a0001c0001t0020g0146	1	147	0.0068	8	c.314 others(29): Show c.3146-12259_3146-12252dupCACACACA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	25/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97464297	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	147	0.0068	8	c.324 others(29): Show c.3241+34575_3241+34582dupAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97500763	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	147	0.0068	8	c.324 others(29): Show c.3241+71051_3241+71058dupATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97507141	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02280.hp1 others(1): Show HG01891.hp1 HG02145.hp1 HG02280.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0001t0001 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0068 a0001c0001t0003g0006 a0001c0003t0003g0081 others(1): Show a0001c0001t0001g0068 a0001c0001t0003g0006 a0001c0003t0003g0081 a0001c0003t0003g0145	4	147	0.0272	8	c.324 others(29): Show c.3241+77414_3241+77421dupAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97509012	G G	GTTAGTTA others(1): Show GTTAGTTAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02300.hp1 NA18612.hp1 others(1): Show HG01099.hp1 HG02300.hp1 NA18612.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0059 a0001c0001t0001g0113 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0059 a0001c0001t0001g0113 a0001c0001t0001g0126	4	147	0.0272	8	c.324 others(29): Show c.3241+79270_3241+79271insGTTATTTA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97509012	G G	GTTATTTA others(1): Show GTTATTTAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp1 others(25): Show HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01256.hp1 HG01433.hp1 HG01928.hp1 HG01981.hp1 HG01981.hp2 HG02572.hp1 HG02602.hp1 HG02809.hp1 HG02809.hp2 HG03209.hp1 HG03540.hp1 HG04199.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18977.hp1 NA18983.hp1 NA18989.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0002t0004 a0001c0007t0005 a0004c0010t0001	a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0033 others(25): Show a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0064 a0001c0001t0002g0080 a0001c0001t0002g0089 a0001c0001t0002g0103 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0003g0084 a0001c0001t0004g0108 a0001c0001t0005g0105 a0001c0001t0006g0005 a0001c0001t0019g0102 a0001c0002t0004g0013 a0001c0007t0005g0131 a0004c0010t0001g0016	28	147	0.1905	8	c.324 others(29): Show c.3241+79305_3241+79312dupTATTTATT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97570127	A A	AAGATAGA others(1): Show AAGATAGAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG02071.hp1 others(4): Show HG01081.hp2 HG01109.hp1 HG02071.hp1 HG02258.hp1 HG02965.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0020 a0001c0004t0001 a0001c0009t0001	a0001c0001t0002g0038 a0001c0001t0002g0052 a0001c0001t0003g0085 others(4): Show a0001c0001t0002g0038 a0001c0001t0002g0052 a0001c0001t0003g0085 a0001c0001t0018g0083 a0001c0001t0020g0146 a0001c0004t0001g0140 a0001c0009t0001g0007	7	147	0.0476	8	c.324 others(29): Show c.3242-29096_3242-29089dupGATAGATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97588996	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02257.hp2 NA20905.hp1 HG00738.hp1 HG02257.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0021 a0001c0001t0001 a0001c0001t0006 a0001c0002t0021	a0001c0001t0001g0031 a0001c0001t0006g0056 a0001c0002t0021g0076 a0001c0001t0001g0031 a0001c0001t0006g0056 a0001c0002t0021g0076	3	147	0.0204	8	c.324 others(29): Show c.3242-10233_3242-10226dupTATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59663665	G G	GCACACAC others(1): Show GCACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG00639.hp2 others(54): Show HG00280.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01256.hp2 HG01891.hp2 HG01943.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02071.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18960.hp1 NA18962.hp2 NA18973.hp1 NA18985.hp2 NA18993.hp1 NA19043.hp1 NA19065.hp1 NA19068.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19240.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0008	a0001c0001 a0001c0014 a0002c0004 others(3): Show a0001c0001 a0001c0014 a0002c0004 a0005c0012 a0006c0011 a0008c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0014t0001 a0002c0004t0005 a0005c0012t0002 a0006c0011t0002 a0008c0016t0005	a0001c0001t0002g0030 a0001c0001t0002g0065 a0001c0001t0002g0067 others(54): Show a0001c0001t0002g0030 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0123 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0164 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0004g0003 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0004g0012 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0005g0079 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0091 a0001c0001t0005g0093 a0001c0001t0005g0099 a0001c0001t0005g0124 a0001c0001t0009g0092 a0001c0001t0011g0116 a0001c0014t0001g0144 a0002c0004t0005g0039 a0005c0012t0002g0127 a0006c0011t0002g0097 a0008c0016t0005g0055	57	208	0.2740	8	c.29 others(19): Show c.2918_*2919insTGTGTGTG	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding		1917		chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59663669	A A	ACACACAC others(1): Show ACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG04184.hp2 HG03491.hp2 HG04184.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0006 a0004c0007t0002 a0004c0007t0006	a0004c0007t0002g0050 a0004c0007t0006g0174 a0004c0007t0002g0050 a0004c0007t0006g0174	2	208	0.0096	8	c.29 others(19): Show c.2914_*2915insCGTGTGTG	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding		1913		chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59729810	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02074.hp2 HG02165.hp2 others(8): Show HG00544.hp2 HG02074.hp2 HG02165.hp2 HG02683.hp1 HG03654.hp2 HG03834.hp1 HG03942.hp2 NA18960.hp2 NA18985.hp1 NA19079.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0009 a0001c0006t0002 a0001c0001t0001 a0001c0001t0009 a0001c0006t0002	a0001c0001t0001g0115 a0001c0001t0001g0147 a0001c0001t0001g0150 others(8): Show a0001c0001t0001g0115 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0009g0092 a0001c0006t0002g0153	11	208	0.0529	8	c.331 others(29): Show c.3319+44371_3319+44378dupAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59756448	G G	GGAAGGAA others(1): Show GGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01081.hp2 others(18): Show HG00099.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp2 HG02071.hp2 HG02257.hp2 HG02559.hp1 HG02735.hp2 HG02922.hp2 HG02970.hp1 HG03195.hp2 HG03834.hp2 NA18747.hp1 NA18943.hp2 NA18955.hp1 NA18962.hp1 NA18973.hp2 NA18978.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0009 a0001c0010t0003 a0002c0004t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0142 others(18): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0189 a0001c0001t0002g0201 a0001c0002t0001g0111 a0001c0002t0001g0146 a0001c0002t0001g0168 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0202 a0001c0002t0009g0170 a0001c0010t0003g0007 a0002c0004t0001g0047	21	208	0.1010	8	c.331 others(29): Show c.3319+17740_3319+17741insTTTCCTTC	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59939835	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01981.hp2 HG02738.hp2 HG00621.hp1 HG01981.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0003g0017 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0003g0017	3	208	0.0144	8	c.207 others(29): Show c.2075-14973_2075-14966dupACACACAC	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	17/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59948840	A A	AGAAGGAA others(1): Show AGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18612.hp2 HG02965.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0020 a0001c0001t0006g0087 a0001c0001t0003g0020 a0001c0001t0006g0087	2	208	0.0096	8	c.207 others(29): Show c.2074+21096_2074+21103dupCTTCCTTC	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	17/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59993702	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01261.hp1 others(22): Show HG00099.hp2 HG01070.hp1 HG01261.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02148.hp2 HG02559.hp2 HG02735.hp2 HG02896.hp1 HG02922.hp2 HG03139.hp2 HG03491.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18990.hp2 NA18993.hp2 NA19064.hp1 NA19068.hp1 NA19082.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0009 a0003c0008 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0002c0003t0002 a0002c0004t0001 a0002c0009t0001 a0003c0008t0001 a0004c0007t0002	a0001c0001t0001g0113 a0001c0001t0001g0189 a0001c0001t0001g0199 others(22): Show a0001c0001t0001g0113 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0007g0131 a0001c0001t0007g0133 a0001c0001t0007g0134 a0001c0002t0001g0176 a0001c0002t0001g0180 a0001c0002t0001g0203 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0004t0001g0036 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0051 a0002c0004t0001g0057 a0002c0009t0001g0043 a0003c0008t0001g0195 a0004c0007t0002g0050	25	208	0.1202	8	c.101 others(27): Show c.1015-1127_1015-1120dupTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	9/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60052959	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01071.hp2 others(11): Show HG00280.hp2 HG00639.hp2 HG01071.hp2 HG01081.hp1 HG01255.hp1 HG01261.hp2 HG01928.hp2 HG01952.hp2 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG03017.hp1 HG03041.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001	a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0100 others(11): Show a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0139 a0001c0001t0005g0099 a0001c0002t0001g0106 a0001c0002t0001g0138 a0001c0002t0001g0141	14	208	0.0673	8	c.496 others(27): Show c.496-10147_496-10140dupTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	4/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60084003	T T	TAGATAGA others(1): Show TAGATAGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18747.hp1 HG00323.hp1 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0189 a0002c0003t0002g0156 a0001c0001t0001g0189 a0002c0003t0002g0156	2	208	0.0096	8	c.495 others(25): Show c.495+9624_495+9625insGTCTATCT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	4/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60099907	A A	AGAAGGAA others(1): Show AGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG01952.hp2 others(18): Show HG01261.hp1 HG01496.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02074.hp1 HG02165.hp1 HG02572.hp1 HG02738.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03471.hp1 HG04199.hp2 NA18906.hp1 NA18969.hp1 NA18978.hp2 NA18983.hp2 NA18993.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0003t0002 a0002c0004t0001 a0005c0012t0002	a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0132 others(18): Show a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0132 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0076 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0006g0109 a0002c0003t0002g0046 a0002c0003t0002g0056 a0002c0003t0002g0157 a0002c0004t0001g0048 a0005c0012t0002g0127	21	208	0.1010	8	c.391 others(25): Show c.391-6183_391-6176dupCTTCCTTC	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	3/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60104566	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01109.hp1 others(23): Show HG00738.hp2 HG01099.hp1 HG01109.hp1 HG01256.hp1 HG01496.hp1 HG02071.hp2 HG02129.hp1 HG02257.hp2 HG02602.hp2 HG02922.hp2 HG02970.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG06807.hp1 NA18747.hp1 NA18943.hp2 NA18955.hp1 NA18962.hp1 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18983.hp1 NA18986.hp1 NA19010.hp2 NA19065.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0015 a0001c0001 a0001c0002 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0009 a0007c0015t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0142 others(23): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0189 a0001c0001t0002g0096 a0001c0001t0002g0135 a0001c0002t0001g0111 a0001c0002t0001g0146 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0179 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0205 a0001c0002t0009g0170 a0007c0015t0001g0206	26	208	0.1250	8	c.390 others(25): Show c.390+7436_390+7443dupTGTGTGTG	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	3/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60105104	A A	AAAAAAAA others(1): Show AAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(43): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp2 HG01256.hp1 HG01496.hp1 HG02071.hp2 HG02129.hp1 HG02257.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp2 HG02735.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18943.hp2 NA18955.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18983.hp1 NA18986.hp1 NA19043.hp2 NA19065.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0003c0008 others(1): Show a0001c0001 a0001c0002 a0003c0008 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0009 a0003c0008t0001 a0007c0015t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0121 others(43): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0002g0107 a0001c0001t0002g0123 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0164 a0001c0001t0002g0201 a0001c0001t0005g0124 a0001c0002t0001g0111 a0001c0002t0001g0146 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0009g0170 a0003c0008t0001g0194 a0003c0008t0001g0195 a0007c0015t0001g0206	46	208	0.2212	8	c.390 others(25): Show c.390+6905_390+6906insGTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	3/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60125394	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02451.hp2 HG03491.hp1 others(7): Show HG01070.hp2 HG02451.hp2 HG03491.hp1 HG03492.hp2 HG04184.hp1 NA18962.hp2 NA18985.hp2 NA19010.hp1 NA19065.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0003g0005 a0001c0001t0003g0026 a0001c0001t0004g0003 others(7): Show a0001c0001t0003g0005 a0001c0001t0003g0026 a0001c0001t0004g0003 a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0010g0024	10	208	0.0481	8	c.213 others(25): Show c.213+7555_213+7562dupAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	2/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60138785	G G	GAGGGAAG others(1): Show GAGGGAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(39): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01255.hp2 HG01256.hp1 HG01496.hp1 HG01884.hp2 HG02071.hp2 HG02129.hp1 HG02559.hp1 HG02572.hp1 HG02698.hp2 HG02735.hp2 HG03041.hp1 HG03195.hp1 HG03471.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18943.hp2 NA18955.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18983.hp1 NA18986.hp1 NA19010.hp2 NA19065.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0008 a0004c0007 a0007c0015 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0009 a0002c0003t0002 a0002c0004t0001 a0003c0008t0001 a0004c0007t0006 a0007c0015t0001 a0008c0016t0005	a0001c0001t0001g0132 a0001c0001t0001g0181 a0001c0001t0001g0189 others(39): Show a0001c0001t0001g0132 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0201 a0001c0002t0001g0111 a0001c0002t0001g0146 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0009g0170 a0002c0003t0002g0046 a0002c0003t0002g0056 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0003c0008t0001g0194 a0003c0008t0001g0195 a0004c0007t0006g0174 a0007c0015t0001g0206 a0008c0016t0005g0055	42	208	0.2019	8	c.181 others(25): Show c.181-5797_181-5796insTCTTCCCT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60162809	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02257.hp1 HG02129.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0013t0001 a0001c0002t0001 a0001c0013t0001	a0001c0002t0001g0205 a0001c0013t0001g0204 a0001c0002t0001g0205 a0001c0013t0001g0204	2	208	0.0096	8	c.180 others(23): Show c.180+770_180+777dupTGTGTGTG	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DICER1_chr14_95081228_95162529	95136086	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01256.hp1 others(18): Show HG00621.hp2 HG00673.hp1 HG01256.hp1 HG01496.hp2 HG02572.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG06807.hp2 NA18906.hp1 NA18961.hp2 NA19030.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0008 a0007c0016 a0001c0001 a0004c0008 a0007c0016	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0026 a0004c0008t0001 a0007c0016t0001	a0001c0001t0001g0095 a0001c0001t0001g0126 a0001c0001t0001g0140 others(16): Show a0001c0001t0001g0095 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0005g0018 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0007g0017 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0192 a0001c0001t0026g0064 a0004c0008t0001g0125 a0007c0016t0001g0182	21	306	0.0686	8	c.-45 others(25): Show c.-45-2591_-45-2584dupGTGTGTGT	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	1/26			chr14	TogoVar
DIDO1_chr20_62872743_62931505	62922109	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02135.hp2 NA18956.hp1 HG00544.hp2 HG02135.hp2 NA18956.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0220 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0220 a0003c0003t0001g0230 a0003c0003t0001g0231	3	320	0.0094	8	c.-20 others(27): Show c.-200+4322_-200+4329dupGTGTGTGT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	1/15			chr20	TogoVar
DIDO1_chr20_62872743_62931505	62922109	T T	TATACACA others(1): Show TATACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG01952.hp2 others(23): Show HG00323.hp1 HG00408.hp1 HG01952.hp2 HG02027.hp1 HG02080.hp1 HG02572.hp2 HG02818.hp2 HG02922.hp2 HG03209.hp2 HG04115.hp2 NA18961.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19056.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2	a0003 a0003	a0003c0003 a0003c0042 a0003c0043 a0003c0003 a0003c0042 a0003c0043	a0003c0003t0001 a0003c0042t0001 a0003c0043t0001 a0003c0003t0001 a0003c0042t0001 a0003c0043t0001	a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 others(19): Show a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0219 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0235 a0003c0003t0001g0239 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0268 a0003c0042t0001g0233 a0003c0043t0001g0234	26	320	0.0813	8	c.-20 others(27): Show c.-200+4329_-200+4330insGTGTGTAT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	1/15			chr20	TogoVar
DIO1_chr1_53889187_53916086	53898744	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp1 HG02615.hp2 others(6): Show HG00642.hp1 HG02055.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0112 others(4): Show a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0004g0015 a0001c0002t0004g0055 a0001c0002t0004g0057	9	452	0.0199	8	c.337 others(25): Show c.337+4209_337+4216dupAAAAAAAA	DIO1	ENSG00000211452.12	transcript	ENST00000361921.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIP2A_chr21_46453891_46575015	46461271	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00735.hp2 others(29): Show HG00099.hp2 HG00140.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01168.hp1 HG01243.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02572.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03492.hp2 HG03540.hp1 HG04184.hp1 NA18949.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0007 others(8): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012 a0001c0013 a0001c0020 a0001c0022 a0001c0030 a0003c0017 a0003c0018 a0003c0025	a0001c0001t0002 a0001c0001t0013 a0001c0006t0004 others(12): Show a0001c0001t0002 a0001c0001t0013 a0001c0006t0004 a0001c0006t0007 a0001c0006t0012 a0001c0006t0014 a0001c0007t0005 a0001c0012t0012 a0001c0013t0015 a0001c0020t0002 a0001c0022t0001 a0001c0030t0026 a0003c0017t0001 a0003c0018t0009 a0003c0025t0001	a0001c0001t0002g0140 a0001c0001t0013g0136 a0001c0001t0013g0137 others(29): Show a0001c0001t0002g0140 a0001c0001t0013g0136 a0001c0001t0013g0137 a0001c0001t0013g0138 a0001c0001t0013g0147 a0001c0006t0004g0145 a0001c0006t0007g0134 a0001c0006t0007g0135 a0001c0006t0007g0142 a0001c0006t0007g0143 a0001c0006t0012g0152 a0001c0006t0014g0150 a0001c0007t0005g0151 a0001c0007t0005g0153 a0001c0007t0005g0154 a0001c0007t0005g0155 a0001c0007t0005g0156 a0001c0007t0005g0157 a0001c0007t0005g0158 a0001c0007t0005g0159 a0001c0012t0012g0144 a0001c0012t0012g0146 a0001c0013t0015g0148 a0001c0020t0002g0139 a0001c0020t0002g0141 a0001c0022t0001g0160 a0001c0030t0026g0165 a0003c0017t0001g0163 a0003c0018t0009g0149 a0003c0018t0009g0161 a0003c0018t0009g0162 a0003c0025t0001g0164	32	374	0.0856	8	c.91+ others(23): Show c.91+2064_91+2071dupAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46463680	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02040.hp2 HG02486.hp2 others(5): Show HG01891.hp2 HG02040.hp2 HG02486.hp2 HG02723.hp1 NA18961.hp2 NA18964.hp1 NA19057.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0006 others(4): Show a0001c0003 a0001c0005 a0001c0006 a0001c0043 a0001c0045 a0002c0009 a0002c0038	a0001c0003t0003 a0001c0005t0003 a0001c0006t0007 others(4): Show a0001c0003t0003 a0001c0005t0003 a0001c0006t0007 a0001c0043t0003 a0001c0045t0003 a0002c0009t0006 a0002c0038t0022	a0001c0003t0003g0344 a0001c0005t0003g0345 a0001c0006t0007g0134 others(5): Show a0001c0003t0003g0344 a0001c0005t0003g0345 a0001c0006t0007g0134 a0001c0006t0007g0135 a0001c0043t0003g0373 a0001c0045t0003g0321 a0002c0009t0006g0181 a0002c0038t0022g0185	8	374	0.0214	8	c.91+ others(23): Show c.91+4490_91+4497dupGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495244	T T	TTCTCTCT others(1): Show TTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02040.hp2 NA19074.hp1 HG00738.hp2 HG02040.hp2 NA19074.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0041 a0001c0003 a0001c0005 a0001c0041	a0001c0003t0003 a0001c0005t0018 a0001c0041t0003 a0001c0003t0003 a0001c0005t0018 a0001c0041t0003	a0001c0003t0003g0344 a0001c0005t0018g0314 a0001c0041t0003g0289 a0001c0003t0003g0344 a0001c0005t0018g0314 a0001c0041t0003g0289	3	374	0.0080	8	c.284 others(25): Show c.284-1716_284-1709dupCTCTCTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46503571	T T	TCTTCCTT others(1): Show TCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00597.hp2 others(46): Show HG00099.hp2 HG00140.hp1 HG00597.hp2 HG00621.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01361.hp2 HG01981.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02165.hp1 HG02451.hp2 HG02572.hp1 HG02683.hp1 HG02976.hp2 HG03098.hp2 HG03239.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG04184.hp1 NA18612.hp2 NA18939.hp1 NA18949.hp1 NA18956.hp1 NA18975.hp1 NA18980.hp1 NA18987.hp1 NA18994.hp2 NA19003.hp2 NA19007.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19089.hp1 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0012 a0001c0042 a0003c0017 a0003c0018 a0003c0025 a0008c0044	a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 others(10): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0024 a0001c0006t0001 a0001c0006t0007 a0001c0007t0005 a0001c0012t0012 a0001c0042t0003 a0003c0017t0001 a0003c0018t0009 a0003c0025t0001 a0008c0044t0003	a0001c0001t0002g0268 a0001c0003t0001g0333 a0001c0003t0003g0294 others(46): Show a0001c0001t0002g0268 a0001c0003t0001g0333 a0001c0003t0003g0294 a0001c0003t0003g0296 a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0306 a0001c0003t0003g0308 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0323 a0001c0003t0003g0326 a0001c0003t0003g0327 a0001c0003t0003g0328 a0001c0003t0003g0330 a0001c0003t0003g0331 a0001c0003t0003g0338 a0001c0003t0003g0340 a0001c0003t0003g0341 a0001c0003t0003g0348 a0001c0003t0003g0351 a0001c0003t0003g0352 a0001c0003t0003g0372 a0001c0003t0024g0307 a0001c0006t0001g0178 a0001c0006t0001g0179 a0001c0006t0001g0180 a0001c0006t0007g0173 a0001c0006t0007g0177 a0001c0007t0005g0126 a0001c0007t0005g0128 a0001c0007t0005g0133 a0001c0007t0005g0151 a0001c0007t0005g0153 a0001c0007t0005g0154 a0001c0007t0005g0155 a0001c0007t0005g0156 a0001c0007t0005g0157 a0001c0007t0005g0158 a0001c0012t0012g0146 a0001c0042t0003g0325 a0003c0017t0001g0130 a0003c0017t0001g0131 a0003c0017t0001g0163 a0003c0018t0009g0149 a0003c0018t0009g0161 a0003c0018t0009g0162 a0003c0025t0001g0129 a0008c0044t0003g0324	49	374	0.1310	8	c.656 others(23): Show c.656-754_656-747dupCCTTCCTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr21	TogoVar

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