Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
DNER_chr2_229352629_229719555	229591816	CGCTGCTG others(5): Show CGCTGCTGCTGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01109.hp2 HG02258.hp1 HG02818.hp1 others(4): Show HG01109.hp2 HG02258.hp1 HG02818.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp2 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0017 a0002c0003 a0002c0017	a0002c0003t0001 a0002c0003t0002 a0002c0017t0002 a0002c0003t0001 a0002c0003t0002 a0002c0017t0002	a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0014 others(4): Show a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0014 a0002c0003t0001g0022 a0002c0003t0001g0105 a0002c0003t0002g0009 a0002c0017t0002g0153	7	173	0.0405	-12	c.337 others(19): Show c.337_348delAGCAGCAGCAGC	p.Ser others(13): Show p.Ser113_Ser116del	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	2/13	480/3257	337/2214	113/737		chr2	TogoVar
DPY19L1_chr7_34923881_35042485	35037172	GGCGCCCC others(14): Show GGCGCCCCCCAAGGCCGCCCCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18943.hp1 NA18943.hp1	a0008 a0008	a0008c0004 a0008c0004	a0008c0004t0001 a0008c0004t0001	a0008c0004t0001g0006 a0008c0004t0001g0006	1	326	0.0031	-21	c.202 others(28): Show c.202_222delGGGGGCGGCCTTGGGGGGCGC	p.Gly others(11): Show p.Gly68_Arg74del	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	1/22	313/5030	202/2247	68/748		chr7	TogoVar
DRC1_chr2_26396920_26461711	26453335	CAGGCGAG others(8): Show CAGGCGAGCATGGAGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01109.hp2 HG01109.hp2	a0013 a0013	a0013c0028 a0013c0028	a0013c0028t0001 a0013c0028t0001	a0013c0028t0001g0348 a0013c0028t0001g0348	1	382	0.0026	-15	c.172 others(24): Show c.1720_1734delAAGGCGAGCATGGAG	p.Lys others(13): Show p.Lys574_Glu578del	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	14/17	1790/2487	1720/2223	574/740	INFO_REALIGN_3_PRIME	chr2	TogoVar
DRD1_chr5_175435036_175449182	175442442	TCCTGTAG others(173): Show TCCTGTAGATCCTGGTGTAGGTGACAATCATGATGGCCACAGGGATGTAA AAGCTTATTACAGAGGATGAGATGGCATATGTCCTGCTGAGGCTGGAGTC ACAGTTGTCTATGGTCTCAGCCAGGGAAGTGGCATTTCCATCAGAGGGGC TTGTGGGTTTTGCCTTGTGCCAGCTGAGCTG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0027 a0003c0006t0001g0027	1	488	0.0020	-180	c.478 others(7): Show c.478_657del	p.Gln others(13): Show p.Gln160_Arg219del	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding	2/2	1624/4031	478/1341	160/446		chr5	TogoVar
DRD4_chr11_632269_645706	637361	CGCGGGGG others(5): Show CGCGGGGGCATCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00423.hp2 others(42): Show HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00544.hp2 HG01069.hp1 HG01070.hp1 HG01123.hp1 HG01256.hp1 HG01346.hp1 HG01943.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18970.hp2 NA18971.hp2 NA18982.hp1 NA18985.hp2 NA19001.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19079.hp1 NA19081.hp1 NA19087.hp2 NA20905.hp1	a0002 a0011 a0002 a0011	a0002c0003 a0002c0015 a0011c0014 a0002c0003 a0002c0015 a0011c0014	a0002c0003t0001 a0002c0003t0004 a0002c0015t0001 others(1): Show a0002c0003t0001 a0002c0003t0004 a0002c0015t0001 a0011c0014t0001	a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0005 others(5): Show a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0053 a0002c0003t0004g0001 a0002c0015t0001g0001 a0011c0014t0001g0001	45	420	0.1071	-12	c.76_ others(17): Show c.76_87delGCATCTGCGGGG	p.Ala others(11): Show p.Ala26_Gly29del	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	1/4	112/1399	76/1260	26/419	INFO_REALIGN_3_PRIME	chr11	TogoVar
DRD4_chr11_632269_645706	640065	TCCCTGCG others(41): Show TCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01346.hp1 NA19087.hp1 NA19091.hp1 HG01346.hp1 NA19087.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0015 a0001c0002 a0002c0015	a0001c0002t0001 a0002c0015t0001 a0001c0002t0001 a0002c0015t0001	a0001c0002t0001g0001 a0002c0015t0001g0001 a0001c0002t0001g0001 a0002c0015t0001g0001	3	420	0.0071	-48	c.841 others(55): Show c.841_888delGCCGCGCCCAGCCTCCCCCAGGACCCCTGCGGCCCCGA CTGTGCGCCC	p.Ala others(13): Show p.Ala281_Pro296del	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	877/1399	841/1260	281/419	INFO_REALIGN_3_PRIME	chr11	TogoVar
DSPP_chr4_87603529_87621873	87614693	CAGCAGT CAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02630.hp1 HG02723.hp2 HG02965.hp2 others(3): Show HG02630.hp1 HG02723.hp2 HG02965.hp2 HG02970.hp1 HG03453.hp1 HG03579.hp2	a0013 a0013	a0013c0021 a0013c0032 a0013c0021 a0013c0032	a0013c0021t0001 a0013c0032t0001 a0013c0021t0001 a0013c0032t0001	a0013c0021t0001g0005 a0013c0021t0001g0006 a0013c0021t0001g0010 others(1): Show a0013c0021t0001g0005 a0013c0021t0001g0006 a0013c0021t0001g0010 a0013c0032t0001g0005	6	448	0.0134	-6	c.203 others(15): Show c.2038_2043delAGCAGT	p.Ser others(13): Show p.Ser680_Ser681del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2158/4331	2038/3906	680/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87614773	GTAGTGAC others(8): Show GTAGTGACAGCAGTGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02071.hp1 HG02071.hp1	a0026 a0026	a0026c0043 a0026c0043	a0026c0043t0001 a0026c0043t0001	a0026c0043t0001g0001 a0026c0043t0001g0001	1	448	0.0022	-15	c.213 others(24): Show c.2131_2145delGACAGCAGTGATAGT	p.Asp others(13): Show p.Asp711_Ser715del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2251/4331	2131/3906	711/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615161	CGATAGCA others(11): Show CGATAGCAGCAACAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02622.hp2 HG03516.hp2 HG02622.hp2 HG03516.hp2	a0021 a0021	a0021c0024 a0021c0024	a0021c0024t0001 a0021c0024t0001	a0021c0024t0001g0025 a0021c0024t0001g0025	2	448	0.0045	-18	c.250 others(27): Show c.2509_2526delAACAGCAGTGATAGCAGC	p.Asn others(13): Show p.Asn837_Ser842del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2629/4331	2509/3906	837/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615221	CGACAGCA others(29): Show CGACAGCAGCAATAGAAGTGACAGTAGTAATAGTAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01167.hp1 HG01169.hp1 HG01192.hp2 others(1): Show HG01167.hp1 HG01169.hp1 HG01192.hp2 HG02257.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0001 a0016c0018t0001g0001	4	448	0.0089	-36	c.256 others(45): Show c.2569_2604delAATAGAAGTGACAGTAGTAATAGTAGTGACAGCAGC	p.Asn others(13): Show p.Asn857_Ser868del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2689/4331	2569/3906	857/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615701	TGATAGCA others(20): Show TGATAGCAGTAATAGTAGTGACAGCAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18948.hp1 NA18948.hp1	a0036 a0036	a0036c0048 a0036c0048	a0036c0048t0001 a0036c0048t0001	a0036c0048t0001g0001 a0036c0048t0001g0001	1	448	0.0022	-27	c.304 others(36): Show c.3040_3066delGATAGCAGTAATAGTAGTGACAGCAGC	p.Asp others(15): Show p.Asp1014_Ser1022del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3160/4331	3040/3906	1014/1301		chr4	TogoVar
DSPP_chr4_87603529_87621873	87615713	TAGTAGTG others(14): Show TAGTAGTGACAGCAGCAATAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	446	0.0022	-21	c.305 others(30): Show c.3055_3075delAGTGACAGCAGCAATAGCAGT	p.Ser others(15): Show p.Ser1019_Ser1025del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3175/4331	3055/3906	1019/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615729	AATAGCAG others(29): Show AATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00408.hp1 HG00597.hp2 others(118): Show HG00140.hp1 HG00408.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp2 NA18987.hp2 NA18993.hp1 NA18998.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA20752.hp2 NA20805.hp1	a0001 a0007 a0009 others(9): Show a0001 a0007 a0009 a0011 a0016 a0018 a0020 a0027 a0032 a0033 a0037 a0041	a0001c0002 a0001c0007 a0001c0055 others(12): Show a0001c0002 a0001c0007 a0001c0055 a0007c0008 a0009c0011 a0011c0016 a0011c0034 a0016c0018 a0018c0022 a0020c0029 a0027c0035 a0032c0033 a0033c0057 a0037c0036 a0041c0056	a0001c0002t0001 a0001c0007t0001 a0001c0055t0001 others(12): Show a0001c0002t0001 a0001c0007t0001 a0001c0055t0001 a0007c0008t0001 a0009c0011t0001 a0011c0016t0001 a0011c0034t0001 a0016c0018t0001 a0018c0022t0001 a0020c0029t0001 a0027c0035t0001 a0032c0033t0001 a0033c0057t0001 a0037c0036t0001 a0041c0056t0001	a0001c0002t0001g0002 a0001c0002t0001g0024 a0001c0002t0001g0040 others(20): Show a0001c0002t0001g0002 a0001c0002t0001g0024 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0007t0001g0002 a0001c0055t0001g0002 a0007c0008t0001g0002 a0009c0011t0001g0002 a0011c0016t0001g0008 a0011c0034t0001g0008 a0016c0018t0001g0001 a0018c0022t0001g0001 a0020c0029t0001g0017 a0027c0035t0001g0003 a0032c0033t0001g0008 a0033c0057t0001g0002 a0037c0036t0001g0003 a0041c0056t0001g0002	121	448	0.2701	-36	c.308 others(45): Show c.3085_3120delAACAGCAGTGACAGCAGCGATAGCAGTGACAGCAGC	p.Asn others(15): Show p.Asn1029_Ser1040del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3205/4331	3085/3906	1029/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615731	TAGCAGTG others(11): Show TAGCAGTGACAGCAGCAAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00738.hp2 HG00738.hp2	a0005 a0005	a0005c0045 a0005c0045	a0005c0045t0004 a0005c0045t0004	a0005c0045t0004g0007 a0005c0045t0004g0007	1	415	0.0024	-18	c.308 others(27): Show c.3085_3102delAACAGCAGTGACAGCAGC	p.Asn others(15): Show p.Asn1029_Ser1034del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3205/4331	3085/3906	1029/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615923	CAGTGACA others(77): Show CAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCG ACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03654.hp2 HG03654.hp2	a0034 a0034	a0034c0053 a0034c0053	a0034c0053t0001 a0034c0053t0001	a0034c0053t0001g0020 a0034c0053t0001g0020	1	446	0.0022	-84	c.326 others(93): Show c.3262_3345delAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGC AGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGT	p.Ser others(15): Show p.Ser1088_Ser1115del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3382/4331	3262/3906	1088/1301		chr4	TogoVar
DSPP_chr4_87603529_87621873	87615923	CAGTGACA others(104): Show CAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCG ACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGC AGCAATAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp1 NA19043.hp2 HG02145.hp1 NA19043.hp2	a0020 a0020	a0020c0029 a0020c0029	a0020c0029t0001 a0020c0029t0001	a0020c0029t0001g0017 a0020c0029t0001g0017	2	447	0.0045	-111	c.326 others(9): Show c.3262_3372del	p.Ser others(15): Show p.Ser1088_Ser1124del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3382/4331	3262/3906	1088/1301		chr4	TogoVar
DSPP_chr4_87603529_87621873	87616079	CAACAGCA others(2): Show CAACAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01891.hp1 HG02055.hp1 NA19043.hp1 others(2): Show HG01891.hp1 HG02055.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0011 a0014c0015t0001g0031 a0014c0015t0001g0011 a0014c0015t0001g0031	5	441	0.0113	-9	c.341 others(18): Show c.3418_3426delAACAGCAGT	p.Asn others(15): Show p.Asn1140_Ser1142del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3538/4331	3418/3906	1140/1301		chr4	TogoVar
DUS1L_chr17_82052506_82070804	82060071	TCTC TCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01261.hp1 HG01891.hp1 HG02615.hp2 others(4): Show HG01261.hp1 HG01891.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG03579.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0002 a0003c0005t0001 a0003c0005t0002	a0003c0005t0001g0051 a0003c0005t0001g0052 a0003c0005t0002g0013 a0003c0005t0001g0051 a0003c0005t0001g0052 a0003c0005t0002g0013	7	422	0.0166	-3	c.104 others(12): Show c.1042_1044delGAG	p.Glu others(6): Show p.Glu348del	DUS1L	ENSG00000169718.18	transcript	ENST00000306796.10	protein_coding	11/14	1246/2233	1042/1422	348/473		chr17	TogoVar
DYDC1_chr10_80331105_80361755	80352514	TCGGATCC others(50): Show TCGGATCCACTGGGCGAACTCTTGCCACTTCTGCAAGACCTTGAGTTAAA CAGGCCCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	364	0.0027	-57	c.31_ others(62): Show c.31_87delGGGGCCTGTTTAACTCAAGGTCTTGCAGAAGTGGCAAGAG TTCGCCCAGTGGATCCG	p.Gly others(11): Show p.Gly11_Pro29del	DYDC1	ENSG00000170788.14	transcript	ENST00000372202.6	protein_coding	2/7	140/638	31/534	11/177		chr10	TogoVar
DYNC2I1_chr7_158851558_158951189	158871383	TGAA TGAA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp2 HG00408.hp1 HG00733.hp1 others(28): Show HG00140.hp2 HG00408.hp1 HG00733.hp1 HG01071.hp2 HG01175.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG02015.hp1 HG02055.hp2 HG02155.hp1 HG02698.hp2 HG02922.hp1 HG02976.hp2 HG03209.hp2 HG03491.hp1 HG03491.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp2 NA18951.hp1 NA18957.hp2 NA18964.hp2 NA19043.hp2 NA19060.hp2 NA19064.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0010 a0003c0011 others(3): Show a0003c0003 a0003c0010 a0003c0011 a0003c0027 a0003c0028 a0003c0029	a0003c0003t0004 a0003c0003t0007 a0003c0010t0011 others(4): Show a0003c0003t0004 a0003c0003t0007 a0003c0010t0011 a0003c0011t0004 a0003c0027t0022 a0003c0028t0023 a0003c0029t0004	a0003c0003t0004g0237 a0003c0003t0004g0238 a0003c0003t0004g0241 others(28): Show a0003c0003t0004g0237 a0003c0003t0004g0238 a0003c0003t0004g0241 a0003c0003t0004g0243 a0003c0003t0004g0244 a0003c0003t0004g0245 a0003c0003t0004g0246 a0003c0003t0004g0251 a0003c0003t0004g0253 a0003c0003t0004g0254 a0003c0003t0004g0255 a0003c0003t0004g0256 a0003c0003t0004g0257 a0003c0003t0004g0258 a0003c0003t0004g0262 a0003c0003t0004g0264 a0003c0003t0004g0265 a0003c0003t0004g0266 a0003c0003t0004g0267 a0003c0003t0007g0239 a0003c0003t0007g0240 a0003c0003t0007g0242 a0003c0003t0007g0248 a0003c0003t0007g0259 a0003c0010t0011g0252 a0003c0010t0011g0261 a0003c0011t0004g0247 a0003c0011t0004g0250 a0003c0027t0022g0263 a0003c0028t0023g0260 a0003c0029t0004g0249	31	272	0.1140	-3	c.313 others(10): Show c.313_315delAAG	p.Lys others(6): Show p.Lys105del	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	3/25	491/3789	313/3201	105/1066	INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB5_chr17_29936634_30113452	29969182	AAAG AAAG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show HG02055.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 NA19240.hp1 NA21309.hp1	a0004 a0007 a0004 a0007	a0004c0004 a0007c0009 a0004c0004 a0007c0009	a0004c0004t0002 a0007c0009t0002 a0004c0004t0002 a0007c0009t0002	a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 a0004c0004t0002g0099 a0004c0004t0002g0100 a0004c0004t0002g0101 a0007c0009t0002g0102 a0007c0009t0002g0103 a0007c0009t0002g0104	9	246	0.0366	-3	c.589 others(10): Show c.589_591delAAG	p.Lys others(6): Show p.Lys197del	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	4/23	752/5103	589/4512	197/1503	INFO_REALIGN_3_PRIME	chr17	TogoVar
EID2_chr19_39533707_39545161	39539773	CTTCCCTG others(20): Show CTTCCCTGGCCGCCGCCGCCGCCGGGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03098.hp2 HG03098.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0004 a0007c0010t0004	a0007c0010t0004g0000 a0007c0010t0004g0000	1	418	0.0024	-27	c.280 others(34): Show c.280_306delAGCCCGGCGGCGGCGGCGGCCAGGGAA	p.Ser others(12): Show p.Ser94_Glu102del	EID2	ENSG00000176396.11	transcript	ENST00000390658.4	protein_coding	1/1	388/1455	280/711	94/236		chr19	TogoVar
EIF2AK3_chr2_88551741_88632464	88627211	CCAG CCAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(276): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0004c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(15): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0004t0001 a0001c0004t0006 a0001c0004t0009 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0008t0004 a0001c0009t0001 a0001c0010t0001 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0007 a0004c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(247): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0249 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0003g0326 a0001c0002t0003g0327 a0001c0002t0003g0328 a0001c0002t0003g0329 a0001c0002t0004g0251 a0001c0004t0001g0016 a0001c0004t0001g0093 a0001c0004t0001g0108 a0001c0004t0001g0109 a0001c0004t0001g0110 a0001c0004t0001g0112 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0001g0116 a0001c0004t0001g0117 a0001c0004t0001g0118 a0001c0004t0001g0119 a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0004t0001g0122 a0001c0004t0001g0123 a0001c0004t0001g0124 a0001c0004t0001g0125 a0001c0004t0001g0138 a0001c0004t0001g0150 a0001c0004t0001g0151 a0001c0004t0001g0152 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0192 a0001c0004t0001g0193 a0001c0004t0001g0201 a0001c0004t0001g0207 a0001c0004t0001g0210 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0231 a0001c0004t0001g0232 a0001c0004t0001g0233 a0001c0004t0006g0149 a0001c0004t0009g0323 a0001c0005t0001g0017 a0001c0005t0001g0018 a0001c0005t0001g0092 a0001c0005t0001g0145 a0001c0005t0001g0146 a0001c0005t0001g0147 a0001c0005t0001g0195 a0001c0005t0001g0196 a0001c0005t0001g0197 a0001c0005t0001g0198 a0001c0005t0001g0199 a0001c0005t0001g0200 a0001c0005t0001g0215 a0001c0005t0001g0216 a0001c0005t0001g0217 a0001c0005t0001g0218 a0001c0005t0001g0219 a0001c0005t0001g0220 a0001c0005t0001g0221 a0001c0005t0001g0222 a0001c0005t0001g0223 a0001c0005t0001g0224 a0001c0005t0001g0225 a0001c0005t0001g0226 a0001c0005t0001g0227 a0001c0005t0001g0228 a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0236 a0001c0005t0001g0237 a0001c0005t0001g0238 a0001c0005t0001g0240 a0001c0005t0001g0243 a0001c0006t0001g0208 a0001c0006t0001g0209 a0001c0006t0001g0211 a0001c0008t0001g0250 a0001c0008t0004g0309 a0001c0009t0001g0262 a0001c0009t0001g0273 a0001c0010t0001g0305 a0001c0010t0001g0306 a0001c0015t0001g0111 a0001c0016t0001g0229 a0001c0017t0001g0184 a0001c0018t0007g0322 a0004c0011t0001g0320 a0004c0011t0001g0321	279	364	0.7665	-3	c.61_ others(8): Show c.61_63delCTG	p.Leu others(5): Show p.Leu21del	EIF2AK3	ENSG00000172071.15	transcript	ENST00000303236.9	protein_coding	1/17	253/4536	61/3351	21/1116		chr2	TogoVar
EIF4EBP3_chr5_140542662_140554576	140549035	TGGAGGAG others(8): Show TGGAGGAGCTGAAGGA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0002 a0003c0004t0001g0002	1	392	0.0026	-15	c.235 others(22): Show c.235_249delGAGGAGCTGAAGGAG	p.Glu others(11): Show p.Glu79_Glu83del	EIF4EBP3	ENSG00000243056.2	transcript	ENST00000310331.3	protein_coding	2/3	311/693	235/303	79/100	INFO_REALIGN_3_PRIME	chr5	TogoVar
EMC3_chr3_9957682_9991841	9986517	CTTGTTCC others(26): Show CTTGTTCCTGGGTGAGCTTCTTGTCGCTCTGCAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0245 a0003c0006t0001g0245	1	320	0.0031	-33	c.112 others(40): Show c.112_144delCTGCAGAGCGACAAGAAGCTCACCCAGGAACAA	p.Leu others(11): Show p.Leu38_Gln48del	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/8	324/2353	112/786	38/261		chr3	TogoVar
EMCN_chr4_100390341_100523022	100480004	TAAC TAAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp2 HG00597.hp2 HG01069.hp1 others(86): Show HG00408.hp2 HG00597.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18747.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18955.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA19001.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp2 NA20129.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(14): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0014 a0002c0002t0016 a0002c0002t0021 a0002c0002t0022 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0031 a0002c0002t0037 a0002c0006t0004	a0002c0002t0001g0002 a0002c0002t0001g0016 a0002c0002t0001g0017 others(85): Show a0002c0002t0001g0002 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0237 a0002c0002t0003g0047 a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0004g0162 a0002c0002t0006g0053 a0002c0002t0007g0163 a0002c0002t0007g0164 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0007g0167 a0002c0002t0007g0168 a0002c0002t0009g0171 a0002c0002t0010g0089 a0002c0002t0010g0090 a0002c0002t0010g0145 a0002c0002t0010g0148 a0002c0002t0014g0096 a0002c0002t0014g0137 a0002c0002t0016g0110 a0002c0002t0016g0111 a0002c0002t0021g0063 a0002c0002t0022g0234 a0002c0002t0024g0095 a0002c0002t0025g0059 a0002c0002t0026g0049 a0002c0002t0031g0138 a0002c0002t0037g0123 a0002c0006t0004g0048	89	260	0.3423	-3	c.97_ others(8): Show c.97_99delGTT	p.Val others(5): Show p.Val33del	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	2/12	207/3966	97/786	33/261		chr4	TogoVar
EPPK1_chr8_143852324_143883467	143858961	CGGCGGCG others(3203): Show CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCAC GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTG GGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCA GCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGAC ACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAG GGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAGCGCAGCT CCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATG TAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTA CGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGC TGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGG TAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCC GCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGA TGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAG GGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTG GATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCC TCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCC AGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTG GTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCA GGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCC ATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAG GGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCT GGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCC TCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCC GGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACG AGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCG CGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC GGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCT CTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGC TCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGC CTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCA AGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCC CTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCC CCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCC GGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCC TGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGT CAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGG ACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGG AGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAG CTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCA TGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACG TACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTC GCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCC GGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACG CCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGAC GATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGT AGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCC TGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAG CCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCT CCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCC TGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCAC CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT CCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGC AGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACAC CTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCT CCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCG CCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTA CGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCC CGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGG GCGGCGGCGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02027.hp1 HG02027.hp1	a0009 a0009	a0009c0083 a0009c0083	a0009c0083t0005 a0009c0083t0005	a0009c0083t0005g0278 a0009c0083t0005g0278	1	422	0.0024	-3210	c.110 others(11): Show c.11083_14292del	p.Thr others(15): Show p.Thr3695_Ala4764del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	14367/16005	11083/15267	3695/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859204	CGCTCACG others(1601): Show CGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCC CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCG GGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCTCGGCCCGGGCCT GGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCC ACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTC CTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGC CCTGGAGGGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAG CGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTG CAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCT GCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTG TCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCC GCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGA TGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCC CGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCC GGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCT TCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACC GACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTG CGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACA TGGCCTGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCG GGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGAC CGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGT CCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCG GACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTC CGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCA GGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTC AGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAA CTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGC GGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCC TGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGG CCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCC CGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGC GCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCG GGCGGCCCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02280.hp1 HG02970.hp2 NA18747.hp2 HG02280.hp1 HG02970.hp2 NA18747.hp2	a0002 a0109 a0135 a0002 a0109 a0135	a0002c0002 a0109c0212 a0135c0226 a0002c0002 a0109c0212 a0135c0226	a0002c0002t0001 a0109c0212t0003 a0135c0226t0002 a0002c0002t0001 a0109c0212t0003 a0135c0226t0002	a0002c0002t0001g0059 a0109c0212t0003g0184 a0135c0226t0002g0304 a0002c0002t0001g0059 a0109c0212t0003g0184 a0135c0226t0002g0304	3	415	0.0072	-1608	c.124 others(11): Show c.12442_14049del	p.Arg others(15): Show p.Arg4148_Ser4683del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	14124/16005	12442/15267	4148/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859204	CGCTCACG others(6404): Show CGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCC CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCG GGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCTCGGCCCGGGCCT GGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCC ACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTC CTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGC CCTGGAGGGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAG CGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTG CAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCT GCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTG TCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCC GCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGA TGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCC CGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCC GGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCT TCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACC GACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTG CGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACA TGGCCTGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCG GGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGAC CGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGT CCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCG GACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTC CGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCA GGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTC AGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAA CTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGC GGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCC TGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGG CCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCC CGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGC GCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCG GGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCG CGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGG GCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGC CTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCT CCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGG TCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTG GCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCAC AGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGC TGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAG CTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGG TGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAG CCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTC GATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCT CCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGC CCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAG CTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCA CCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCC TGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCA CATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGG CGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTG ACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAG GTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGG CGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCC TCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCC CAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGC TCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGG AACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTG GCGGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCC CCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCT GGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGC CCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCA GCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCC CGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCAC CGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCA GGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGG GCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTC CTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCC GGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTC TGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGC ACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCA GCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGC AGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTT GGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGT AGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGG TCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTG CTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCT GCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGC AGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTC CACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCG CCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTC CACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTT GGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCT TGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCC AGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGA GGCGGACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCT CCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGG CCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTC GCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCT GGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCC TGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCC CTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTG GCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGG GCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGG CAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGG CCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGC CCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTC CCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGG CCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACG GTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTC GGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCT GGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGC AGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAG CATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCA CGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCG TCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCG CTGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGA CGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGG ACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGT GTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCT CCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGAC AGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGC CTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGG CCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGC ACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGA GTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCC GCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGAC ACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGT CTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGG CGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGG TACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTG CCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGC GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC CCGGGCGGCCCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01081.hp1 HG02071.hp1 HG01081.hp1 HG02071.hp1	a0009 a0020 a0009 a0020	a0009c0037 a0020c0104 a0009c0037 a0020c0104	a0009c0037t0002 a0020c0104t0002 a0009c0037t0002 a0020c0104t0002	a0009c0037t0002g0208 a0020c0104t0002g0298 a0009c0037t0002g0208 a0020c0104t0002g0298	2	414	0.0048	-6411	c.763 others(10): Show c.7639_14049del	p.Arg others(15): Show p.Arg2547_Ser4683del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	14124/16005	7639/15267	2547/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859336	CGGCCTCG others(5): Show CGGCCTCGGCCCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0045 a0045	a0045c0034 a0045c0034	a0045c0034t0002 a0045c0034t0002	a0045c0034t0002g0012 a0045c0034t0002g0012	2	421	0.0048	-12	c.139 others(23): Show c.13906_13917delCGGGCCGAGGCC	p.Arg others(15): Show p.Arg4636_Ala4639del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	13992/16005	13906/15267	4636/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859717	GGGCCAGG others(1595): Show GGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT GCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC GGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTC ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG GTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02055.hp2 HG02055.hp2	a0011 a0011	a0011c0044 a0011c0044	a0011c0044t0005 a0011c0044t0005	a0011c0044t0005g0068 a0011c0044t0005g0068	1	218	0.0046	-1602	c.119 others(11): Show c.11935_13536del	p.Asp others(15): Show p.Asp3979_Ala4512del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	13611/16005	11935/15267	3979/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143860560	CGGCGGCG others(2): Show CGGCGGCGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01192.hp1 HG02300.hp1 HG02559.hp1 others(29): Show HG01192.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp2 NA18986.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0011 a0022 others(21): Show a0001 a0011 a0022 a0025 a0027 a0028 a0040 a0042 a0043 a0071 a0094 a0096 a0105 a0111 a0112 a0113 a0114 a0115 a0119 a0122 a0137 a0155 a0166 a0168	a0001c0001 a0011c0044 a0022c0120 others(22): Show a0001c0001 a0011c0044 a0022c0120 a0025c0025 a0027c0027 a0027c0057 a0028c0018 a0040c0051 a0042c0045 a0043c0043 a0071c0135 a0094c0159 a0096c0218 a0105c0126 a0111c0198 a0112c0128 a0113c0124 a0114c0058 a0115c0167 a0119c0125 a0122c0211 a0137c0223 a0155c0129 a0166c0061 a0168c0196	a0001c0001t0002 a0011c0044t0001 a0022c0120t0003 others(24): Show a0001c0001t0002 a0011c0044t0001 a0022c0120t0003 a0025c0025t0003 a0025c0025t0013 a0027c0027t0010 a0027c0057t0010 a0028c0018t0001 a0040c0051t0001 a0040c0051t0004 a0042c0045t0001 a0043c0043t0001 a0071c0135t0005 a0094c0159t0005 a0096c0218t0005 a0105c0126t0004 a0111c0198t0004 a0112c0128t0001 a0113c0124t0001 a0114c0058t0010 a0115c0167t0010 a0119c0125t0001 a0122c0211t0003 a0137c0223t0003 a0155c0129t0001 a0166c0061t0004 a0168c0196t0002	a0001c0001t0002g0100 a0011c0044t0001g0271 a0022c0120t0003g0146 others(27): Show a0001c0001t0002g0100 a0011c0044t0001g0271 a0022c0120t0003g0146 a0025c0025t0003g0183 a0025c0025t0003g0254 a0025c0025t0013g0110 a0027c0027t0010g0031 a0027c0057t0010g0229 a0028c0018t0001g0017 a0028c0018t0001g0128 a0040c0051t0001g0056 a0040c0051t0004g0060 a0042c0045t0001g0103 a0042c0045t0001g0125 a0043c0043t0001g0032 a0071c0135t0005g0070 a0094c0159t0005g0243 a0096c0218t0005g0248 a0105c0126t0004g0231 a0111c0198t0004g0058 a0112c0128t0001g0241 a0113c0124t0001g0126 a0114c0058t0010g0074 a0115c0167t0010g0118 a0119c0125t0001g0127 a0122c0211t0003g0182 a0137c0223t0003g0114 a0155c0129t0001g0242 a0166c0061t0004g0268 a0168c0196t0002g0106	32	422	0.0758	-9	c.126 others(20): Show c.12685_12693delACCGCCGCC	p.Thr others(15): Show p.Thr4229_Ala4231del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	12768/16005	12685/15267	4229/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143860569	TGGCGGCG others(4796): Show TGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC GGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTC ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG GTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGG CCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCC GTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAG GTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGT CGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATC TCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAG GTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCA GCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAG ATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGAC GCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCT CCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTC TCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCA CCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGA TGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCC GCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGA GAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCT GCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCG GCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCG CCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGC GCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCC TCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCC CGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGC CGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCC ACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCG CGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCA GCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGTGCCCGCC CGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTA GAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGC CTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGC TGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGT GTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCT CGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCC AGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCACGTC CACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGA TCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTC TGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTA GCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGC CCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGC ACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAG GGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCA TCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCG ATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCAC CTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGC CCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGG CCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCG GGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCT GGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGG ACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTC CATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGG CGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2	a0002 a0041 a0002 a0041	a0002c0002 a0041c0055 a0002c0002 a0041c0055	a0002c0002t0001 a0041c0055t0001 a0041c0055t0004 a0002c0002t0001 a0041c0055t0001 a0041c0055t0004	a0002c0002t0001g0145 a0041c0055t0001g0121 a0041c0055t0004g0120 a0002c0002t0001g0145 a0041c0055t0001g0121 a0041c0055t0004g0120	3	279	0.0108	-4803	c.788 others(10): Show c.7882_12684del	p.Ala others(15): Show p.Ala2628_Ala4228del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	12759/16005	7882/15267	2628/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143861916	GCCTCAGG others(1595): Show GCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCG ATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGC CGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGG AGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGC TGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGC GGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTC GCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCC CGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTC CTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGT CCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTG CTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCG GAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGG GGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGG GCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAG CGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACA CCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGG GCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTC CTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGT AGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTAC GTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCT GGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGT AGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCG CCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGAT GAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGG GGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGG ATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCT CAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCA GCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGG TAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAG GACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCA TCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGG GTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTG GCA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18997.hp2 NA18997.hp2	a0152 a0152	a0152c0071 a0152c0071	a0152c0071t0005 a0152c0071t0005	a0152c0071t0005g0290 a0152c0071t0005g0290	1	411	0.0024	-1602	c.973 others(10): Show c.9736_11337del	p.Cys others(15): Show p.Cys3246_Arg3779del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11412/16005	9736/15267	3246/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862159	GGGCGGCG others(3191): Show GGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGG CCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCC TGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGG GGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCG GGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGC GGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGC GCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCC TCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTG GGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCA CGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCC TCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCC CTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGC GCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGC AGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTG CACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGT CGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCG CGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGAT GACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCC GGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCG GTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTT CTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCG ACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGC GCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACAT GGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGG GCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACC GAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTC CCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGG ACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCC GTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAG GGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCA GGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAAC TGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCG GCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTC GCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCC CGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTC CTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGT CCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTG CTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCG GAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGG GGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGG GCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAG CGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACA CCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGG GCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTC CTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGT AGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTAC GTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCT GGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGT AGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCG CCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGAT GAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGG GGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGG ATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCT CAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCA GCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGG TAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAG GACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCA TCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGG GTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTG GCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCT CGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCG GCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGA GGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGC GCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00609.hp1 HG01099.hp1 others(14): Show HG00099.hp1 HG00609.hp1 HG01099.hp1 HG02155.hp1 HG02602.hp1 HG02738.hp2 HG03239.hp2 HG03490.hp1 HG03669.hp1 HG03831.hp2 HG04184.hp1 NA18963.hp2 NA18970.hp2 NA18975.hp2 NA18979.hp1 NA19074.hp2 NA19081.hp2	a0006 a0026 a0034 others(5): Show a0006 a0026 a0034 a0089 a0120 a0128 a0148 a0159	a0006c0009 a0006c0085 a0006c0087 others(9): Show a0006c0009 a0006c0085 a0006c0087 a0006c0106 a0026c0035 a0026c0091 a0034c0038 a0089c0182 a0120c0079 a0128c0235 a0148c0184 a0159c0078	a0006c0009t0002 a0006c0085t0002 a0006c0087t0002 others(10): Show a0006c0009t0002 a0006c0085t0002 a0006c0087t0002 a0006c0106t0007 a0026c0035t0002 a0026c0035t0007 a0026c0091t0002 a0034c0038t0002 a0089c0182t0002 a0120c0079t0002 a0128c0235t0002 a0148c0184t0002 a0159c0078t0002	a0006c0009t0002g0040 a0006c0009t0002g0105 a0006c0009t0002g0280 others(12): Show a0006c0009t0002g0040 a0006c0009t0002g0105 a0006c0009t0002g0280 a0006c0085t0002g0259 a0006c0087t0002g0332 a0006c0106t0007g0306 a0026c0035t0002g0279 a0026c0035t0007g0104 a0026c0091t0002g0324 a0034c0038t0002g0039 a0089c0182t0002g0321 a0120c0079t0002g0096 a0128c0235t0002g0281 a0148c0184t0002g0222 a0159c0078t0002g0085	17	406	0.0419	-3198	c.789 others(10): Show c.7897_11094del	p.Ala others(15): Show p.Ala2633_Ala3698del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11169/16005	7897/15267	2633/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862162	CGGCGGCG others(2): Show CGGCGGCGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02165.hp1 HG02280.hp1 HG02280.hp2 others(40): Show HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA18957.hp1 NA18971.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19080.hp1 NA19084.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0002 a0011 a0012 others(25): Show a0002 a0011 a0012 a0022 a0025 a0027 a0029 a0031 a0033 a0039 a0040 a0042 a0090 a0094 a0096 a0098 a0106 a0107 a0109 a0111 a0112 a0114 a0115 a0122 a0137 a0144 a0155 a0170	a0002c0002 a0011c0028 a0011c0044 others(29): Show a0002c0002 a0011c0028 a0011c0044 a0011c0060 a0012c0011 a0022c0120 a0025c0025 a0027c0027 a0027c0057 a0029c0019 a0031c0052 a0033c0033 a0033c0117 a0039c0042 a0040c0051 a0042c0045 a0090c0072 a0094c0159 a0096c0218 a0098c0204 a0106c0189 a0107c0063 a0109c0212 a0111c0198 a0112c0128 a0114c0058 a0115c0167 a0122c0211 a0137c0223 a0144c0077 a0155c0129 a0170c0059	a0002c0002t0001 a0011c0028t0001 a0011c0044t0001 others(31): Show a0002c0002t0001 a0011c0028t0001 a0011c0044t0001 a0011c0060t0001 a0012c0011t0002 a0022c0120t0003 a0025c0025t0003 a0025c0025t0013 a0027c0027t0010 a0027c0057t0010 a0029c0019t0001 a0031c0052t0001 a0033c0033t0002 a0033c0117t0002 a0039c0042t0004 a0040c0051t0001 a0040c0051t0004 a0042c0045t0001 a0090c0072t0002 a0094c0159t0005 a0096c0218t0005 a0098c0204t0005 a0106c0189t0022 a0107c0063t0004 a0109c0212t0003 a0111c0198t0004 a0112c0128t0001 a0114c0058t0010 a0115c0167t0010 a0122c0211t0003 a0137c0223t0003 a0144c0077t0002 a0155c0129t0001 a0170c0059t0010	a0002c0002t0001g0059 a0011c0028t0001g0265 a0011c0028t0001g0266 others(37): Show a0002c0002t0001g0059 a0011c0028t0001g0265 a0011c0028t0001g0266 a0011c0044t0001g0271 a0011c0060t0001g0267 a0012c0011t0002g0173 a0022c0120t0003g0146 a0025c0025t0003g0183 a0025c0025t0003g0254 a0025c0025t0013g0110 a0027c0027t0010g0031 a0027c0057t0010g0229 a0029c0019t0001g0006 a0031c0052t0001g0062 a0031c0052t0001g0342 a0033c0033t0002g0292 a0033c0033t0002g0312 a0033c0117t0002g0339 a0039c0042t0004g0067 a0039c0042t0004g0071 a0040c0051t0001g0056 a0040c0051t0004g0060 a0042c0045t0001g0103 a0042c0045t0001g0125 a0090c0072t0002g0338 a0094c0159t0005g0243 a0096c0218t0005g0248 a0098c0204t0005g0237 a0106c0189t0022g0048 a0107c0063t0004g0270 a0109c0212t0003g0184 a0111c0198t0004g0058 a0112c0128t0001g0241 a0114c0058t0010g0074 a0115c0167t0010g0118 a0122c0211t0003g0182 a0137c0223t0003g0114 a0144c0077t0002g0291 a0155c0129t0001g0242 a0170c0059t0010g0147	43	421	0.1021	-9	c.110 others(20): Show c.11083_11091delACCGCCGCC	p.Thr others(15): Show p.Thr3695_Ala3697del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11166/16005	11083/15267	3695/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862171	TGGCGGCG others(2): Show TGGCGGCGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18972.hp1 NA18974.hp1 NA19084.hp2 NA18972.hp1 NA18974.hp1 NA19084.hp2	a0047 a0161 a0047 a0161	a0047c0140 a0047c0232 a0161c0154 a0047c0140 a0047c0232 a0161c0154	a0047c0140t0003 a0047c0232t0003 a0161c0154t0003 a0047c0140t0003 a0047c0232t0003 a0161c0154t0003	a0047c0140t0003g0079 a0047c0232t0003g0078 a0161c0154t0003g0080 a0047c0140t0003g0079 a0047c0232t0003g0078 a0161c0154t0003g0080	3	264	0.0114	-9	c.110 others(20): Show c.11074_11082delGCCGCCGCC	p.Ala others(15): Show p.Ala3692_Ala3694del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11157/16005	11074/15267	3692/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862171	TGGCGGCG others(1586): Show TGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACC TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	262	0.0038	-1593	c.949 others(10): Show c.9490_11082del	p.Ala others(15): Show p.Ala3164_Ala3694del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11157/16005	9490/15267	3164/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862171	TGGCGGCG others(3194): Show TGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACC TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC GGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCC CCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGC CAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTC GATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCG AGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCG GACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCAC CTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCG GGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGC AGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGTGCCCGCCCG GTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGA AGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCT GGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTG GTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGT CCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCG TGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAG GACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCACGTCCA CGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATC TGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTG CATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGC CGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCC ACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCAC GGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGG CCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATC TTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGAT GCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCT CCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCC AGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCC GCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGG TGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGG GCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGAC GTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCA TGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCG GC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 NA18947.hp2 others(2): Show HG01257.hp2 HG01258.hp1 NA18947.hp2 NA18952.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0001g0340 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0001g0340 a0001c0001t0004g0052	5	266	0.0188	-3201	c.788 others(10): Show c.7882_11082del	p.Ala others(15): Show p.Ala2628_Ala3694del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11157/16005	7882/15267	2628/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143863761	GGGCGGCG others(1589): Show GGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGC TGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCG CGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCT CGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCC AGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCT CACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGA GGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGG TCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGC CTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCG TGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACC TCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGC GCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCT CGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAG AGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGT GAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGG GGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAG GCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCC CGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGA GGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGG TCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGAT CTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCA GGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGC AGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTA GATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGA CGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATC TCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGT CTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGC GCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCG ATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGC CGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGG AGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGC TGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18995.hp1 NA19011.hp2 NA18995.hp1 NA19011.hp2	a0023 a0151 a0023 a0151	a0023c0036 a0151c0107 a0023c0036 a0151c0107	a0023c0036t0002 a0151c0107t0002 a0023c0036t0002 a0151c0107t0002	a0023c0036t0002g0285 a0151c0107t0002g0299 a0023c0036t0002g0285 a0151c0107t0002g0299	2	295	0.0068	-1596	c.789 others(9): Show c.7897_9492del	p.Ala others(15): Show p.Ala2633_Ala3164del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	9567/16005	7897/15267	2633/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143863761	GGGCGGCG others(1601): Show GGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGC TGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCG CGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCT CGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCC AGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCT CACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGA GGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGG TCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGC CTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCG TGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACC TCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGC GCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCT CGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAG AGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGT GAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGG GGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAG GCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCC CGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGA GGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGG TCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGAT CTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCA GGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGC AGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTA GATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGA CGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATC TCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGT CTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGC GCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCG ATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGC CGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGG AGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGC TGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGC GGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01358.hp2 HG01978.hp2 HG01981.hp2 others(4): Show HG01358.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02300.hp2 NA19009.hp2 NA20300.hp1	a0001 a0007 a0009 others(1): Show a0001 a0007 a0009 a0082	a0001c0004 a0007c0142 a0009c0095 others(1): Show a0001c0004 a0007c0142 a0009c0095 a0082c0170	a0001c0004t0001 a0007c0142t0001 a0009c0095t0001 others(1): Show a0001c0004t0001 a0007c0142t0001 a0009c0095t0001 a0082c0170t0001	a0001c0004t0001g0004 a0007c0142t0001g0081 a0009c0095t0001g0209 others(1): Show a0001c0004t0001g0004 a0007c0142t0001g0081 a0009c0095t0001g0209 a0082c0170t0001g0055	7	300	0.0233	-1608	c.788 others(9): Show c.7885_9492del	p.Ala others(15): Show p.Ala2629_Ala3164del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	9567/16005	7885/15267	2629/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865354	GGGC GGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00323.hp2 HG00597.hp1 others(109): Show HG00099.hp2 HG00323.hp2 HG00597.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18978.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19065.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0003 a0004 a0010 others(46): Show a0003 a0004 a0010 a0012 a0013 a0014 a0015 a0018 a0023 a0032 a0033 a0035 a0036 a0037 a0038 a0044 a0045 a0046 a0048 a0055 a0061 a0062 a0064 a0068 a0069 a0073 a0075 a0076 a0081 a0084 a0087 a0090 a0101 a0104 a0126 a0127 a0131 a0135 a0141 a0142 a0143 a0146 a0147 a0150 a0156 a0157 a0162 a0168 a0169	a0003c0003 a0003c0006 a0003c0032 others(67): Show a0003c0003 a0003c0006 a0003c0032 a0003c0084 a0003c0103 a0003c0109 a0003c0114 a0004c0005 a0004c0015 a0004c0089 a0004c0090 a0004c0092 a0004c0093 a0004c0115 a0010c0020 a0010c0137 a0010c0141 a0010c0146 a0012c0011 a0012c0166 a0013c0056 a0013c0191 a0013c0192 a0014c0013 a0015c0012 a0018c0017 a0023c0036 a0023c0082 a0032c0014 a0033c0033 a0033c0117 a0035c0180 a0035c0181 a0036c0039 a0037c0049 a0038c0050 a0044c0040 a0045c0034 a0046c0096 a0048c0030 a0055c0108 a0061c0183 a0062c0144 a0064c0076 a0068c0074 a0069c0067 a0073c0102 a0075c0151 a0076c0086 a0081c0073 a0084c0080 a0087c0162 a0090c0072 a0101c0227 a0104c0143 a0126c0116 a0127c0171 a0131c0147 a0135c0226 a0141c0070 a0142c0068 a0143c0118 a0146c0069 a0147c0188 a0150c0228 a0156c0185 a0157c0209 a0162c0199 a0168c0196 a0169c0110	a0003c0003t0002 a0003c0006t0001 a0003c0006t0002 others(81): Show a0003c0003t0002 a0003c0006t0001 a0003c0006t0002 a0003c0006t0006 a0003c0006t0007 a0003c0032t0002 a0003c0084t0025 a0003c0103t0002 a0003c0109t0006 a0003c0114t0002 a0004c0005t0002 a0004c0005t0007 a0004c0005t0024 a0004c0015t0002 a0004c0015t0012 a0004c0089t0006 a0004c0090t0002 a0004c0092t0002 a0004c0093t0002 a0004c0115t0002 a0010c0020t0002 a0010c0020t0007 a0010c0020t0014 a0010c0137t0014 a0010c0141t0014 a0010c0146t0002 a0012c0011t0002 a0012c0011t0006 a0012c0166t0002 a0013c0056t0002 a0013c0191t0002 a0013c0192t0006 a0014c0013t0002 a0015c0012t0002 a0015c0012t0006 a0015c0012t0012 a0018c0017t0002 a0023c0036t0002 a0023c0082t0002 a0032c0014t0002 a0032c0014t0007 a0033c0033t0002 a0033c0117t0002 a0035c0180t0002 a0035c0181t0006 a0036c0039t0002 a0036c0039t0007 a0037c0049t0002 a0037c0049t0006 a0038c0050t0002 a0044c0040t0002 a0045c0034t0002 a0046c0096t0002 a0048c0030t0006 a0055c0108t0002 a0061c0183t0002 a0062c0144t0007 a0064c0076t0002 a0068c0074t0002 a0069c0067t0002 a0073c0102t0002 a0075c0151t0002 a0076c0086t0007 a0081c0073t0002 a0084c0080t0007 a0087c0162t0002 a0090c0072t0002 a0101c0227t0002 a0104c0143t0002 a0126c0116t0002 a0127c0171t0002 a0131c0147t0002 a0135c0226t0002 a0141c0070t0006 a0142c0068t0002 a0143c0118t0002 a0146c0069t0002 a0147c0188t0006 a0150c0228t0007 a0156c0185t0002 a0157c0209t0002 a0162c0199t0002 a0168c0196t0002 a0169c0110t0002	a0003c0003t0002g0003 a0003c0003t0002g0336 a0003c0006t0001g0300 others(94): Show a0003c0003t0002g0003 a0003c0003t0002g0336 a0003c0006t0001g0300 a0003c0006t0002g0089 a0003c0006t0002g0214 a0003c0006t0002g0307 a0003c0006t0006g0213 a0003c0006t0007g0316 a0003c0032t0002g0027 a0003c0084t0025g0204 a0003c0103t0002g0212 a0003c0109t0006g0233 a0003c0114t0002g0302 a0004c0005t0002g0036 a0004c0005t0002g0082 a0004c0005t0002g0193 a0004c0005t0002g0205 a0004c0005t0007g0206 a0004c0005t0024g0287 a0004c0015t0002g0097 a0004c0015t0002g0202 a0004c0015t0012g0201 a0004c0089t0006g0192 a0004c0090t0002g0293 a0004c0092t0002g0314 a0004c0093t0002g0207 a0004c0115t0002g0054 a0010c0020t0002g0134 a0010c0020t0007g0135 a0010c0020t0014g0051 a0010c0137t0014g0138 a0010c0141t0014g0131 a0010c0146t0002g0133 a0012c0011t0002g0158 a0012c0011t0002g0173 a0012c0011t0002g0322 a0012c0011t0006g0072 a0012c0166t0002g0165 a0013c0056t0002g0035 a0013c0191t0002g0149 a0013c0192t0006g0334 a0014c0013t0002g0030 a0014c0013t0002g0179 a0014c0013t0002g0234 a0015c0012t0002g0023 a0015c0012t0006g0175 a0015c0012t0012g0174 a0018c0017t0002g0041 a0018c0017t0002g0317 a0023c0036t0002g0283 a0023c0082t0002g0203 a0032c0014t0002g0044 a0032c0014t0007g0086 a0033c0033t0002g0292 a0033c0033t0002g0312 a0033c0117t0002g0339 a0035c0180t0002g0171 a0035c0181t0006g0221 a0036c0039t0002g0308 a0036c0039t0007g0215 a0037c0049t0002g0219 a0037c0049t0006g0091 a0038c0050t0002g0014 a0044c0040t0002g0028 a0045c0034t0002g0012 a0046c0096t0002g0210 a0048c0030t0006g0277 a0055c0108t0002g0289 a0061c0183t0002g0157 a0062c0144t0007g0333 a0064c0076t0002g0238 a0068c0074t0002g0196 a0069c0067t0002g0194 a0073c0102t0002g0211 a0075c0151t0002g0137 a0076c0086t0007g0260 a0081c0073t0002g0195 a0084c0080t0007g0199 a0087c0162t0002g0326 a0090c0072t0002g0338 a0101c0227t0002g0141 a0104c0143t0002g0329 a0126c0116t0002g0046 a0127c0171t0002g0309 a0131c0147t0002g0136 a0135c0226t0002g0304 a0141c0070t0006g0083 a0142c0068t0002g0064 a0143c0118t0002g0130 a0146c0069t0002g0311 a0147c0188t0006g0177 a0150c0228t0007g0286 a0156c0185t0002g0172 a0157c0209t0002g0227 a0162c0199t0002g0282 a0168c0196t0002g0106 a0169c0110t0002g0090	112	156	0.7179	-3	c.789 others(12): Show c.7897_7899delGCC	p.Ala others(7): Show p.Ala2633del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7974/16005	7897/15267	2633/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865354	GGGCGGC GGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(205): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0007 others(81): Show a0001 a0002 a0007 a0008 a0009 a0011 a0016 a0017 a0020 a0021 a0022 a0024 a0027 a0028 a0030 a0031 a0039 a0040 a0042 a0043 a0046 a0049 a0050 a0051 a0054 a0056 a0057 a0058 a0059 a0063 a0066 a0067 a0070 a0071 a0072 a0074 a0079 a0080 a0083 a0085 a0088 a0091 a0092 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0102 a0103 a0105 a0107 a0108 a0110 a0111 a0112 a0113 a0114 a0115 a0117 a0119 a0121 a0124 a0125 a0132 a0133 a0134 a0138 a0139 a0140 a0145 a0152 a0153 a0155 a0158 a0160 a0163 a0164 a0165 a0166 a0170 a0171	a0001c0001 a0001c0004 a0001c0010 others(109): Show a0001c0001 a0001c0004 a0001c0010 a0001c0022 a0001c0023 a0001c0054 a0001c0161 a0001c0163 a0001c0172 a0001c0179 a0001c0187 a0001c0234 a0002c0002 a0002c0053 a0002c0193 a0002c0203 a0002c0205 a0002c0210 a0002c0213 a0007c0047 a0007c0048 a0007c0148 a0008c0008 a0008c0029 a0009c0037 a0009c0097 a0009c0099 a0011c0044 a0011c0134 a0016c0016 a0017c0021 a0020c0088 a0020c0112 a0021c0208 a0021c0214 a0021c0215 a0022c0041 a0024c0024 a0027c0027 a0027c0057 a0028c0018 a0030c0132 a0030c0133 a0031c0052 a0039c0042 a0040c0051 a0042c0045 a0043c0043 a0046c0098 a0049c0031 a0050c0075 a0051c0157 a0054c0202 a0056c0175 a0057c0100 a0058c0158 a0059c0220 a0063c0195 a0066c0156 a0067c0065 a0070c0136 a0071c0135 a0072c0190 a0074c0113 a0079c0197 a0080c0066 a0083c0169 a0085c0168 a0088c0062 a0091c0173 a0092c0201 a0094c0159 a0095c0130 a0096c0218 a0097c0155 a0098c0204 a0099c0224 a0100c0186 a0102c0225 a0103c0122 a0105c0126 a0107c0063 a0108c0127 a0110c0138 a0111c0198 a0112c0128 a0113c0124 a0114c0058 a0115c0167 a0117c0121 a0119c0125 a0121c0105 a0124c0177 a0125c0200 a0132c0081 a0133c0064 a0134c0206 a0138c0176 a0139c0233 a0140c0236 a0145c0160 a0152c0071 a0153c0216 a0155c0129 a0158c0217 a0160c0178 a0163c0174 a0164c0164 a0165c0237 a0166c0061 a0170c0059 a0171c0150	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(117): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0004t0001 a0001c0010t0001 a0001c0022t0001 a0001c0023t0001 a0001c0054t0001 a0001c0161t0001 a0001c0163t0001 a0001c0172t0001 a0001c0179t0001 a0001c0187t0001 a0001c0234t0001 a0002c0002t0001 a0002c0002t0004 a0002c0053t0008 a0002c0193t0001 a0002c0203t0005 a0002c0205t0001 a0002c0210t0019 a0002c0213t0001 a0007c0047t0001 a0007c0048t0012 a0007c0148t0001 a0008c0008t0001 a0008c0008t0020 a0008c0029t0001 a0009c0037t0001 a0009c0097t0001 a0009c0099t0001 a0011c0044t0005 a0011c0134t0001 a0016c0016t0002 a0017c0021t0001 a0020c0088t0001 a0020c0112t0001 a0021c0208t0008 a0021c0214t0008 a0021c0215t0008 a0022c0041t0002 a0022c0041t0007 a0024c0024t0001 a0024c0024t0004 a0027c0027t0010 a0027c0057t0010 a0028c0018t0001 a0030c0132t0009 a0030c0133t0009 a0031c0052t0001 a0039c0042t0004 a0040c0051t0001 a0040c0051t0004 a0042c0045t0001 a0043c0043t0001 a0046c0098t0002 a0049c0031t0001 a0050c0075t0001 a0051c0157t0001 a0054c0202t0001 a0056c0175t0001 a0057c0100t0013 a0058c0158t0001 a0059c0220t0001 a0063c0195t0006 a0066c0156t0001 a0067c0065t0009 a0070c0136t0009 a0071c0135t0005 a0072c0190t0002 a0074c0113t0001 a0079c0197t0001 a0080c0066t0018 a0083c0169t0001 a0085c0168t0005 a0088c0062t0001 a0091c0173t0021 a0092c0201t0001 a0094c0159t0005 a0095c0130t0009 a0096c0218t0005 a0097c0155t0001 a0098c0204t0005 a0099c0224t0004 a0100c0186t0001 a0102c0225t0003 a0103c0122t0001 a0105c0126t0004 a0107c0063t0004 a0108c0127t0009 a0110c0138t0012 a0111c0198t0004 a0112c0128t0001 a0113c0124t0001 a0114c0058t0010 a0115c0167t0010 a0117c0121t0002 a0119c0125t0001 a0121c0105t0002 a0124c0177t0001 a0125c0200t0001 a0132c0081t0002 a0133c0064t0001 a0134c0206t0003 a0138c0176t0005 a0139c0233t0001 a0140c0236t0001 a0145c0160t0002 a0152c0071t0005 a0153c0216t0016 a0155c0129t0001 a0158c0217t0005 a0160c0178t0001 a0163c0174t0001 a0164c0164t0001 a0165c0237t0001 a0166c0061t0004 a0170c0059t0010 a0171c0150t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(158): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0102 a0001c0001t0001g0190 a0001c0001t0001g0228 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0305 a0001c0001t0001g0325 a0001c0001t0001g0337 a0001c0001t0001g0341 a0001c0001t0004g0021 a0001c0001t0004g0220 a0001c0001t0004g0230 a0001c0001t0005g0029 a0001c0001t0005g0047 a0001c0001t0005g0191 a0001c0001t0017g0168 a0001c0004t0001g0022 a0001c0004t0001g0313 a0001c0004t0001g0320 a0001c0010t0001g0163 a0001c0010t0001g0232 a0001c0022t0001g0013 a0001c0022t0001g0164 a0001c0023t0001g0020 a0001c0023t0001g0123 a0001c0054t0001g0025 a0001c0161t0001g0162 a0001c0163t0001g0093 a0001c0172t0001g0167 a0001c0179t0001g0310 a0001c0187t0001g0176 a0001c0234t0001g0276 a0002c0002t0001g0008 a0002c0002t0001g0034 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0073 a0002c0002t0001g0119 a0002c0002t0001g0124 a0002c0002t0001g0150 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0004g0244 a0002c0053t0008g0024 a0002c0193t0001g0261 a0002c0203t0005g0101 a0002c0205t0001g0063 a0002c0210t0019g0323 a0002c0213t0001g0185 a0007c0047t0001g0129 a0007c0047t0001g0255 a0007c0048t0012g0018 a0007c0148t0001g0256 a0008c0008t0001g0026 a0008c0008t0001g0335 a0008c0008t0020g0198 a0008c0029t0001g0043 a0009c0037t0001g0294 a0009c0097t0001g0295 a0009c0099t0001g0315 a0011c0044t0005g0068 a0011c0134t0001g0069 a0016c0016t0002g0038 a0016c0016t0002g0098 a0017c0021t0001g0007 a0020c0088t0001g0087 a0020c0112t0001g0216 a0021c0208t0008g0226 a0021c0214t0008g0111 a0021c0215t0008g0186 a0022c0041t0002g0076 a0022c0041t0007g0077 a0024c0024t0001g0065 a0024c0024t0001g0109 a0024c0024t0004g0108 a0027c0027t0010g0031 a0027c0057t0010g0229 a0028c0018t0001g0017 a0028c0018t0001g0128 a0030c0132t0009g0251 a0030c0133t0009g0252 a0031c0052t0001g0062 a0031c0052t0001g0342 a0039c0042t0004g0067 a0039c0042t0004g0071 a0040c0051t0001g0056 a0040c0051t0004g0060 a0042c0045t0001g0103 a0043c0043t0001g0032 a0046c0098t0002g0088 a0049c0031t0001g0037 a0050c0075t0001g0197 a0051c0157t0001g0159 a0054c0202t0001g0180 a0056c0175t0001g0107 a0057c0100t0013g0296 a0058c0158t0001g0160 a0059c0220t0001g0188 a0063c0195t0006g0235 a0066c0156t0001g0155 a0067c0065t0009g0274 a0070c0136t0009g0253 a0071c0135t0005g0070 a0072c0190t0002g0330 a0074c0113t0001g0217 a0079c0197t0001g0117 a0080c0066t0018g0284 a0083c0169t0001g0318 a0085c0168t0005g0166 a0088c0062t0001g0269 a0091c0173t0021g0061 a0092c0201t0001g0224 a0094c0159t0005g0243 a0095c0130t0009g0249 a0096c0218t0005g0248 a0097c0155t0001g0288 a0098c0204t0005g0237 a0099c0224t0004g0115 a0100c0186t0001g0112 a0102c0225t0003g0116 a0103c0122t0001g0263 a0105c0126t0004g0231 a0107c0063t0004g0270 a0108c0127t0009g0239 a0110c0138t0012g0139 a0111c0198t0004g0058 a0112c0128t0001g0241 a0113c0124t0001g0126 a0114c0058t0010g0074 a0115c0167t0010g0118 a0117c0121t0002g0075 a0119c0125t0001g0127 a0121c0105t0002g0327 a0124c0177t0001g0169 a0125c0200t0001g0223 a0132c0081t0002g0200 a0133c0064t0001g0148 a0134c0206t0003g0246 a0138c0176t0005g0153 a0139c0233t0001g0152 a0140c0236t0001g0303 a0145c0160t0002g0161 a0152c0071t0005g0290 a0153c0216t0016g0236 a0155c0129t0001g0242 a0158c0217t0005g0144 a0160c0178t0001g0170 a0163c0174t0001g0319 a0164c0164t0001g0218 a0165c0237t0001g0099 a0166c0061t0004g0268 a0170c0059t0010g0147 a0171c0150t0003g0258	208	252	0.8254	-6	c.789 others(15): Show c.7894_7899delGCCGCC	p.Ala others(15): Show p.Ala2632_Ala2633del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7974/16005	7894/15267	2632/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865354	GGGCGGCG others(5): Show GGGCGGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp1 HG00423.hp1 HG00673.hp2 others(14): Show HG00408.hp1 HG00423.hp1 HG00673.hp2 HG01106.hp2 HG02109.hp1 HG02559.hp1 HG02896.hp1 HG02970.hp2 HG03195.hp1 HG03516.hp2 HG03540.hp2 NA18906.hp2 NA18972.hp1 NA18974.hp1 NA18982.hp1 NA19030.hp2 NA19084.hp2	a0025 a0047 a0048 others(11): Show a0025 a0047 a0048 a0052 a0053 a0060 a0065 a0086 a0106 a0109 a0122 a0137 a0154 a0161	a0025c0025 a0047c0140 a0047c0232 others(12): Show a0025c0025 a0047c0140 a0047c0232 a0048c0030 a0052c0219 a0053c0145 a0060c0101 a0065c0207 a0086c0229 a0106c0189 a0109c0212 a0122c0211 a0137c0223 a0154c0231 a0161c0154	a0025c0025t0003 a0025c0025t0013 a0047c0140t0003 others(13): Show a0025c0025t0003 a0025c0025t0013 a0047c0140t0003 a0047c0232t0003 a0048c0030t0006 a0052c0219t0003 a0053c0145t0013 a0060c0101t0003 a0065c0207t0013 a0086c0229t0009 a0106c0189t0022 a0109c0212t0003 a0122c0211t0003 a0137c0223t0003 a0154c0231t0016 a0161c0154t0003	a0025c0025t0003g0183 a0025c0025t0003g0254 a0025c0025t0013g0110 others(14): Show a0025c0025t0003g0183 a0025c0025t0003g0254 a0025c0025t0013g0110 a0047c0140t0003g0079 a0047c0232t0003g0078 a0048c0030t0006g0084 a0052c0219t0003g0187 a0053c0145t0013g0132 a0060c0101t0003g0297 a0065c0207t0013g0328 a0086c0229t0009g0240 a0106c0189t0022g0048 a0109c0212t0003g0184 a0122c0211t0003g0182 a0137c0223t0003g0114 a0154c0231t0016g0142 a0161c0154t0003g0080	17	61	0.2787	-12	c.788 others(21): Show c.7888_7899delGCCGCCGCCGCC	p.Ala others(15): Show p.Ala2630_Ala2633del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7974/16005	7888/15267	2630/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865354	GGGCGGCG others(8): Show GGGCGGCGGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00323.hp1 HG00544.hp1 HG00609.hp2 others(36): Show HG00323.hp1 HG00544.hp1 HG00609.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01192.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02258.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03942.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp1 NA18947.hp1 NA18950.hp1 NA18956.hp2 NA18957.hp1 NA18973.hp1 NA18986.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19043.hp1	a0001 a0002 a0005 others(16): Show a0001 a0002 a0005 a0009 a0011 a0019 a0022 a0029 a0031 a0042 a0077 a0078 a0093 a0116 a0118 a0129 a0130 a0136 a0144	a0001c0001 a0001c0010 a0002c0002 others(20): Show a0001c0001 a0001c0010 a0002c0002 a0005c0007 a0005c0046 a0009c0083 a0011c0028 a0011c0044 a0011c0060 a0019c0026 a0022c0120 a0029c0019 a0031c0194 a0042c0045 a0077c0165 a0078c0230 a0093c0221 a0116c0123 a0118c0119 a0129c0111 a0130c0153 a0136c0222 a0144c0077	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(25): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0010t0008 a0001c0010t0015 a0002c0002t0008 a0002c0002t0011 a0005c0007t0003 a0005c0007t0023 a0005c0046t0003 a0009c0083t0005 a0011c0028t0001 a0011c0044t0001 a0011c0060t0001 a0019c0026t0011 a0022c0120t0003 a0029c0019t0001 a0031c0194t0008 a0042c0045t0001 a0077c0165t0003 a0078c0230t0026 a0093c0221t0004 a0116c0123t0004 a0118c0119t0001 a0129c0111t0003 a0130c0153t0003 a0136c0222t0004 a0144c0077t0002	a0001c0001t0002g0100 a0001c0001t0005g0029 a0001c0001t0015g0343 others(29): Show a0001c0001t0002g0100 a0001c0001t0005g0029 a0001c0001t0015g0343 a0001c0010t0008g0122 a0001c0010t0015g0094 a0002c0002t0008g0181 a0002c0002t0011g0033 a0005c0007t0003g0009 a0005c0007t0003g0140 a0005c0007t0003g0331 a0005c0007t0023g0257 a0005c0046t0003g0019 a0009c0083t0005g0278 a0011c0028t0001g0265 a0011c0028t0001g0266 a0011c0044t0001g0271 a0011c0060t0001g0267 a0019c0026t0011g0011 a0019c0026t0011g0189 a0022c0120t0003g0146 a0029c0019t0001g0006 a0031c0194t0008g0178 a0042c0045t0001g0125 a0077c0165t0003g0156 a0078c0230t0026g0275 a0093c0221t0004g0262 a0116c0123t0004g0264 a0118c0119t0001g0066 a0129c0111t0003g0301 a0130c0153t0003g0050 a0136c0222t0004g0113 a0144c0077t0002g0291	39	83	0.4699	-15	c.788 others(24): Show c.7885_7899delGCCGCCGCCGCCGCC	p.Ala others(15): Show p.Ala2629_Ala2633del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7974/16005	7885/15267	2629/5088		chr8	TogoVar
ERICH1_chr8_659200_736224	673457	CACCGTCC others(17): Show CACCGTCCTCCTCCCTGGTGTCTTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02615.hp1 HG03471.hp1 HG03516.hp1 HG02615.hp1 HG03471.hp1 HG03516.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0237 a0005c0007t0001g0238 a0005c0007t0001g0239 a0005c0007t0001g0237 a0005c0007t0001g0238 a0005c0007t0001g0239	3	376	0.0080	-24	c.871 others(31): Show c.871_894delAAAGACACCAGGGAGGAGGACGGT	p.Lys others(13): Show p.Lys291_Gly298del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/6	957/1798	871/1332	291/443		chr8	TogoVar
ESF1_chr20_13709325_13789919	13759800	CCTT CCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00621.hp1 HG02165.hp1 HG02523.hp2 others(7): Show HG00621.hp1 HG02165.hp1 HG02523.hp2 NA18942.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp2 NA18978.hp2 NA19000.hp2 NA19057.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0227 a0004c0006t0001g0228 a0004c0006t0001g0230 others(7): Show a0004c0006t0001g0227 a0004c0006t0001g0228 a0004c0006t0001g0230 a0004c0006t0001g0231 a0004c0006t0001g0232 a0004c0006t0001g0233 a0004c0006t0001g0234 a0004c0006t0001g0235 a0004c0006t0001g0236 a0004c0006t0001g0237	10	388	0.0258	-3	c.171 others(12): Show c.1717_1719delAAG	p.Lys others(6): Show p.Lys573del	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	9/14	1802/3188	1717/2556	573/851		chr20	TogoVar
ESRRA_chr11_64300524_64321743	64314849	CCCTCTGT others(32): Show CCCTCTGTGACCTCTTTGACCGAGAGATTGTGGTCACCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04199.hp2 HG04199.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0153 a0005c0005t0001g0153	1	386	0.0026	-39	c.682 others(46): Show c.682_720delCTCTGTGACCTCTTTGACCGAGAGATTGTGGTCACCAT C	p.Leu others(13): Show p.Leu228_Ile240del	ESRRA	ENSG00000173153.17	transcript	ENST00000000442.11	protein_coding	5/7	907/2274	682/1272	228/423	INFO_REALIGN_3_PRIME	chr11	TogoVar
ESX1_chrX_104245038_104259933	104250317	TGGGTGGC others(20): Show TGGGTGGCAGAGGCGCCATGGGCGGCCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00323.hp2 HG00741.hp2 others(20): Show HG00099.hp2 HG00323.hp2 HG00741.hp2 HG01099.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01993.hp1 HG02004.hp1 HG02083.hp1 HG03139.hp1 HG03704.hp2 HG03927.hp1 NA18945.hp1 NA18947.hp2 NA18970.hp1 NA18992.hp2 NA18993.hp1 NA19074.hp1 NA19089.hp1 NA20129.hp1 NA20752.hp1	a0005 a0007 a0005 a0007	a0005c0005 a0007c0008 a0005c0005 a0007c0008	a0005c0005t0001 a0007c0008t0001 a0005c0005t0001 a0007c0008t0001	a0005c0005t0001g0005 a0005c0005t0001g0009 a0007c0008t0001g0010 a0005c0005t0001g0005 a0005c0005t0001g0009 a0007c0008t0001g0010	23	222	0.1036	-27	c.110 others(36): Show c.1105_1131delGGGCCGCCCATGGCGCCTCTGCCACCC	p.Gly others(13): Show p.Gly369_Pro377del	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	4/4	1215/1495	1105/1221	369/406		chrX	TogoVar
ESX1_chrX_104245038_104259933	104250482	GTGGCACA others(20): Show GTGGCACAGGCGCCATGGGCGGCCCGGT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA20905.hp1 NA20905.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0006 a0004c0004t0001g0006	1	310	0.0032	-27	c.940 others(34): Show c.940_966delACCGGGCCGCCCATGGCGCCTGTGCCA	p.Thr others(13): Show p.Thr314_Pro322del	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	4/4	1050/1495	940/1221	314/406		chrX	TogoVar

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