Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
DMKN_chr19_35492220_35518649	35511468	A A	ACCACTGC others(5): Show ACCACTGCTGCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp2 HG01123.hp2 HG01978.hp2 others(46): Show HG00738.hp2 HG01123.hp2 HG01978.hp2 HG02015.hp2 HG02055.hp2 HG02083.hp2 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02523.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG03927.hp2 HG04184.hp2 NA18612.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18952.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18985.hp2 NA19000.hp1 NA19002.hp2 NA19055.hp1 NA19056.hp2 NA19065.hp1 NA19079.hp1 NA19086.hp2 NA19090.hp2 NA20300.hp1	a0005 a0007 a0033 a0005 a0007 a0033	a0005c0005 a0005c0020 a0005c0041 others(2): Show a0005c0005 a0005c0020 a0005c0041 a0007c0007 a0033c0043	a0005c0005t0001 a0005c0005t0003 a0005c0020t0003 others(3): Show a0005c0005t0001 a0005c0005t0003 a0005c0020t0003 a0005c0041t0001 a0007c0007t0001 a0033c0043t0003	a0005c0005t0001g0013 a0005c0005t0001g0025 a0005c0005t0001g0050 others(26): Show a0005c0005t0001g0013 a0005c0005t0001g0025 a0005c0005t0001g0050 a0005c0005t0001g0051 a0005c0005t0001g0052 a0005c0005t0001g0210 a0005c0005t0001g0212 a0005c0005t0001g0213 a0005c0005t0001g0214 a0005c0005t0001g0215 a0005c0005t0001g0221 a0005c0005t0001g0222 a0005c0005t0001g0233 a0005c0005t0001g0234 a0005c0005t0003g0027 a0005c0005t0003g0059 a0005c0005t0003g0061 a0005c0020t0003g0028 a0005c0020t0003g0063 a0005c0041t0001g0231 a0007c0007t0001g0007 a0007c0007t0001g0032 a0007c0007t0001g0033 a0007c0007t0001g0087 a0007c0007t0001g0094 a0007c0007t0001g0095 a0007c0007t0001g0096 a0007c0007t0001g0097 a0033c0043t0003g0060	49	442	0.1109	12	c.860 others(19): Show c.860_861insCAGCAGCAGTGG	p.Gly others(25): Show p.Gly287_Gly288insSerSerSerGly	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1034/1924	860/1431	287/476		chr19	TogoVar
DMKN_chr19_35492220_35518649	35511468	A A	ACCACTGC others(17): Show ACCACTGCTGCTGCCACTGCTGCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02056.hp2 HG03654.hp1 HG04204.hp2 others(2): Show HG02056.hp2 HG03654.hp1 HG04204.hp2 NA18977.hp2 NA19068.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0001 a0016c0017t0001	a0016c0017t0001g0211 a0016c0017t0001g0218 a0016c0017t0001g0219 others(2): Show a0016c0017t0001g0211 a0016c0017t0001g0218 a0016c0017t0001g0219 a0016c0017t0001g0220 a0016c0017t0001g0224	5	442	0.0113	24	c.860 others(31): Show c.860_861insCAGCAGCAGTGGCAGCAGCAGTGG	p.Gly others(37): Show p.Gly287_Gly288insSerSerSerGlySerSerSerGly	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1034/1924	860/1431	287/476		chr19	TogoVar
DMKN_chr19_35492220_35518649	35511519	A A	ACTGCTGC others(2): Show ACTGCTGCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00323.hp2 HG00642.hp1 HG01243.hp2 others(4): Show HG00323.hp2 HG00642.hp1 HG01243.hp2 HG01981.hp1 HG02683.hp2 HG03209.hp2 HG03225.hp2	a0015 a0035 a0015 a0035	a0015c0012 a0035c0038 a0015c0012 a0035c0038	a0015c0012t0001 a0015c0012t0002 a0035c0038t0001 a0015c0012t0001 a0015c0012t0002 a0035c0038t0001	a0015c0012t0001g0029 a0015c0012t0001g0066 a0015c0012t0001g0072 others(3): Show a0015c0012t0001g0029 a0015c0012t0001g0066 a0015c0012t0001g0072 a0015c0012t0001g0099 a0015c0012t0002g0065 a0035c0038t0001g0206	7	442	0.0158	9	c.809 others(16): Show c.809_810insCAGCAGCAG	p.Ser others(13): Show p.Ser268_Gly270dup	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	983/1924	809/1431	270/476		chr19	TogoVar
DMRTB1_chr1_53454399_53472488	53459700	G G	GCCGCCC GCCGCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp1 HG00280.hp2 HG00544.hp2 others(55): Show HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01433.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02083.hp2 HG02132.hp2 HG02559.hp1 HG02738.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18949.hp1 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18967.hp1 NA18969.hp1 NA18979.hp2 NA18982.hp1 NA18987.hp1 NA18988.hp2 NA18993.hp2 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19009.hp2 NA19058.hp2 NA19060.hp1 NA19068.hp1 NA19074.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0001 a0004c0006t0001 a0002c0002t0001 a0004c0006t0001	a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0015 others(9): Show a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0054 a0004c0006t0001g0015	58	394	0.1472	6	c.257 others(13): Show c.257_262dupCCCCCG	p.Ala others(11): Show p.Ala86_Pro87dup	DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding	1/4	318/1910	263/1029	88/342	INFO_REALIGN_3_PRIME	chr1	TogoVar
DNHD1_chr11_6492280_6577020	6546665	C C	CTGCCCTA others(5): Show CTGCCCTACTGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(338): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.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 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(111): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0101 a0102 a0103 a0104 a0105 a0106 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0115	a0001c0001 a0001c0046 a0001c0050 others(140): Show a0001c0001 a0001c0046 a0001c0050 a0001c0113 a0001c0126 a0001c0131 a0001c0132 a0002c0002 a0002c0031 a0003c0003 a0004c0013 a0004c0025 a0004c0124 a0004c0133 a0005c0004 a0005c0118 a0006c0008 a0006c0034 a0007c0009 a0007c0080 a0007c0084 a0008c0005 a0008c0061 a0009c0011 a0009c0096 a0009c0102 a0010c0010 a0010c0087 a0010c0091 a0011c0007 a0011c0076 a0012c0006 a0012c0070 a0013c0012 a0014c0014 a0015c0029 a0015c0068 a0015c0069 a0016c0019 a0016c0066 a0017c0015 a0018c0040 a0018c0041 a0019c0022 a0020c0023 a0021c0017 a0022c0016 a0023c0032 a0023c0073 a0024c0020 a0025c0018 a0026c0021 a0027c0049 a0027c0141 a0028c0024 a0029c0026 a0030c0027 a0031c0033 a0032c0030 a0033c0028 a0034c0036 a0035c0099 a0035c0101 a0036c0035 a0037c0048 a0038c0038 a0039c0039 a0040c0106 a0040c0109 a0041c0043 a0042c0042 a0043c0044 a0044c0045 a0045c0047 a0046c0037 a0047c0051 a0048c0052 a0049c0085 a0050c0079 a0051c0081 a0052c0082 a0053c0083 a0054c0078 a0055c0077 a0056c0058 a0057c0059 a0058c0056 a0059c0055 a0060c0057 a0061c0054 a0062c0074 a0063c0071 a0064c0067 a0065c0063 a0066c0065 a0067c0064 a0068c0062 a0069c0060 a0070c0072 a0071c0075 a0072c0053 a0073c0094 a0074c0098 a0075c0097 a0076c0095 a0077c0100 a0078c0093 a0079c0086 a0080c0089 a0081c0088 a0082c0090 a0083c0092 a0084c0143 a0085c0142 a0086c0103 a0087c0140 a0088c0108 a0089c0107 a0090c0110 a0091c0134 a0092c0112 a0093c0114 a0094c0117 a0095c0120 a0096c0139 a0097c0119 a0098c0138 a0099c0136 a0100c0128 a0101c0129 a0102c0127 a0103c0130 a0104c0125 a0105c0123 a0106c0122 a0107c0121 a0108c0116 a0109c0115 a0110c0135 a0111c0137 a0112c0111 a0113c0105 a0115c0144	a0001c0001t0002 a0001c0001t0003 a0001c0046t0002 others(143): Show a0001c0001t0002 a0001c0001t0003 a0001c0046t0002 a0001c0050t0002 a0001c0113t0002 a0001c0126t0002 a0001c0131t0002 a0001c0132t0002 a0002c0002t0001 a0002c0002t0005 a0002c0031t0001 a0003c0003t0002 a0004c0013t0002 a0004c0025t0002 a0004c0124t0002 a0004c0133t0002 a0005c0004t0002 a0005c0118t0002 a0006c0008t0001 a0006c0034t0001 a0007c0009t0001 a0007c0009t0007 a0007c0080t0001 a0007c0084t0006 a0008c0005t0001 a0008c0061t0001 a0009c0011t0001 a0009c0096t0001 a0009c0102t0001 a0010c0010t0001 a0010c0087t0001 a0010c0091t0001 a0011c0007t0001 a0011c0076t0001 a0012c0006t0001 a0012c0070t0001 a0013c0012t0001 a0014c0014t0001 a0015c0029t0001 a0015c0068t0001 a0015c0069t0001 a0016c0019t0001 a0016c0066t0001 a0017c0015t0002 a0018c0040t0002 a0018c0041t0002 a0019c0022t0001 a0020c0023t0001 a0021c0017t0001 a0022c0016t0001 a0023c0032t0001 a0023c0073t0001 a0024c0020t0001 a0025c0018t0001 a0026c0021t0001 a0027c0049t0002 a0027c0141t0002 a0028c0024t0002 a0029c0026t0001 a0030c0027t0001 a0031c0033t0001 a0032c0030t0001 a0033c0028t0001 a0034c0036t0001 a0035c0099t0001 a0035c0101t0001 a0036c0035t0001 a0037c0048t0001 a0038c0038t0002 a0039c0039t0002 a0040c0106t0002 a0040c0109t0002 a0041c0043t0002 a0042c0042t0002 a0043c0044t0002 a0044c0045t0002 a0045c0047t0002 a0046c0037t0001 a0047c0051t0001 a0048c0052t0001 a0049c0085t0001 a0050c0079t0001 a0051c0081t0001 a0052c0082t0001 a0053c0083t0001 a0054c0078t0001 a0055c0077t0001 a0056c0058t0001 a0057c0059t0001 a0058c0056t0001 a0059c0055t0001 a0060c0057t0001 a0061c0054t0001 a0062c0074t0001 a0063c0071t0001 a0064c0067t0001 a0065c0063t0001 a0066c0065t0001 a0067c0064t0001 a0068c0062t0001 a0069c0060t0001 a0070c0072t0001 a0071c0075t0001 a0072c0053t0002 a0073c0094t0008 a0074c0098t0001 a0075c0097t0001 a0076c0095t0001 a0077c0100t0001 a0078c0093t0001 a0079c0086t0001 a0080c0089t0001 a0081c0088t0001 a0082c0090t0001 a0083c0092t0001 a0084c0143t0002 a0085c0142t0002 a0086c0103t0002 a0087c0140t0002 a0088c0108t0002 a0089c0107t0002 a0090c0110t0002 a0091c0134t0002 a0092c0112t0002 a0093c0114t0002 a0094c0117t0002 a0095c0120t0002 a0096c0139t0004 a0097c0119t0002 a0098c0138t0004 a0099c0136t0002 a0100c0128t0002 a0101c0129t0002 a0102c0127t0003 a0103c0130t0002 a0104c0125t0002 a0105c0123t0002 a0106c0122t0002 a0107c0121t0002 a0108c0116t0002 a0109c0115t0002 a0110c0135t0002 a0111c0137t0001 a0112c0111t0003 a0113c0105t0002 a0115c0144t0002	a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0016 others(333): Show a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0161 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0334 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0046t0002g0005 a0001c0050t0002g0054 a0001c0113t0002g0110 a0001c0126t0002g0160 a0001c0131t0002g0028 a0001c0132t0002g0099 a0002c0002t0001g0006 a0002c0002t0001g0263 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0298 a0002c0002t0001g0311 a0002c0002t0001g0313 a0002c0002t0001g0316 a0002c0002t0001g0333 a0002c0002t0005g0275 a0002c0031t0001g0321 a0002c0031t0001g0322 a0003c0003t0002g0024 a0003c0003t0002g0126 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0139 a0003c0003t0002g0151 a0003c0003t0002g0163 a0003c0003t0002g0165 a0003c0003t0002g0166 a0003c0003t0002g0167 a0003c0003t0002g0168 a0003c0003t0002g0174 a0003c0003t0002g0182 a0003c0003t0002g0183 a0004c0013t0002g0154 a0004c0013t0002g0155 a0004c0013t0002g0156 a0004c0013t0002g0158 a0004c0013t0002g0159 a0004c0025t0002g0013 a0004c0025t0002g0023 a0004c0025t0002g0069 a0004c0124t0002g0057 a0004c0133t0002g0157 a0005c0004t0002g0012 a0005c0004t0002g0044 a0005c0004t0002g0048 a0005c0004t0002g0049 a0005c0004t0002g0102 a0005c0004t0002g0112 a0005c0004t0002g0140 a0005c0004t0002g0164 a0005c0118t0002g0137 a0006c0008t0001g0010 a0006c0008t0001g0237 a0006c0008t0001g0238 a0006c0008t0001g0241 a0006c0008t0001g0243 a0006c0008t0001g0244 a0006c0034t0001g0009 a0006c0034t0001g0239 a0007c0009t0001g0225 a0007c0009t0001g0228 a0007c0009t0001g0229 a0007c0009t0001g0230 a0007c0009t0001g0231 a0007c0009t0007g0234 a0007c0080t0001g0242 a0007c0084t0006g0227 a0008c0005t0001g0305 a0008c0005t0001g0307 a0008c0005t0001g0309 a0008c0005t0001g0310 a0008c0005t0001g0318 a0008c0005t0001g0320 a0008c0005t0001g0323 a0008c0061t0001g0281 a0009c0011t0001g0190 a0009c0011t0001g0191 a0009c0011t0001g0196 a0009c0011t0001g0198 a0009c0011t0001g0200 a0009c0011t0001g0202 a0009c0096t0001g0193 a0009c0102t0001g0201 a0010c0010t0001g0077 a0010c0010t0001g0079 a0010c0010t0001g0081 a0010c0010t0001g0082 a0010c0010t0001g0083 a0010c0010t0001g0085 a0010c0087t0001g0084 a0010c0091t0001g0008 a0011c0007t0001g0211 a0011c0007t0001g0216 a0011c0007t0001g0218 a0011c0007t0001g0221 a0011c0007t0001g0222 a0011c0007t0001g0223 a0011c0076t0001g0217 a0012c0006t0001g0325 a0012c0006t0001g0326 a0012c0006t0001g0328 a0012c0006t0001g0330 a0012c0006t0001g0331 a0012c0006t0001g0332 a0012c0070t0001g0267 a0013c0012t0001g0270 a0013c0012t0001g0272 a0013c0012t0001g0284 a0013c0012t0001g0303 a0013c0012t0001g0304 a0014c0014t0001g0204 a0014c0014t0001g0208 a0014c0014t0001g0210 a0014c0014t0001g0246 a0015c0029t0001g0269 a0015c0029t0001g0308 a0015c0068t0001g0268 a0015c0069t0001g0306 a0016c0019t0001g0265 a0016c0019t0001g0279 a0016c0019t0001g0280 a0016c0066t0001g0319 a0017c0015t0002g0002 a0017c0015t0002g0093 a0017c0015t0002g0096 a0018c0040t0002g0169 a0018c0040t0002g0170 a0018c0041t0002g0127 a0018c0041t0002g0138 a0019c0022t0001g0214 a0019c0022t0001g0215 a0019c0022t0001g0226 a0020c0023t0001g0224 a0020c0023t0001g0232 a0020c0023t0001g0233 a0021c0017t0001g0249 a0021c0017t0001g0250 a0021c0017t0001g0251 a0022c0016t0001g0252 a0022c0016t0001g0253 a0022c0016t0001g0254 a0023c0032t0001g0299 a0023c0032t0001g0300 a0023c0073t0001g0301 a0024c0020t0001g0007 a0024c0020t0001g0312 a0025c0018t0001g0276 a0025c0018t0001g0277 a0025c0018t0001g0278 a0026c0021t0001g0264 a0026c0021t0001g0266 a0026c0021t0001g0302 a0027c0049t0002g0179 a0027c0049t0002g0180 a0027c0141t0002g0173 a0028c0024t0002g0059 a0028c0024t0002g0063 a0028c0024t0002g0067 a0029c0026t0001g0257 a0029c0026t0001g0258 a0030c0027t0001g0205 a0030c0027t0001g0209 a0031c0033t0001g0314 a0031c0033t0001g0315 a0032c0030t0001g0288 a0032c0030t0001g0292 a0033c0028t0001g0327 a0033c0028t0001g0329 a0034c0036t0001g0187 a0034c0036t0001g0188 a0035c0099t0001g0189 a0035c0101t0001g0199 a0036c0035t0001g0185 a0036c0035t0001g0186 a0037c0048t0001g0092 a0037c0048t0001g0094 a0038c0038t0002g0134 a0038c0038t0002g0172 a0039c0039t0002g0004 a0040c0106t0002g0147 a0040c0109t0002g0129 a0041c0043t0002g0149 a0041c0043t0002g0150 a0042c0042t0002g0053 a0042c0042t0002g0056 a0043c0044t0002g0039 a0043c0044t0002g0091 a0044c0045t0002g0003 a0045c0047t0002g0001 a0045c0047t0002g0046 a0046c0037t0001g0089 a0046c0037t0001g0090 a0047c0051t0001g0247 a0048c0052t0001g0248 a0049c0085t0001g0240 a0050c0079t0001g0236 a0051c0081t0001g0235 a0052c0082t0001g0220 a0053c0083t0001g0212 a0054c0078t0001g0213 a0055c0077t0001g0219 a0056c0058t0001g0206 a0057c0059t0001g0245 a0058c0056t0001g0256 a0059c0055t0001g0207 a0060c0057t0001g0184 a0061c0054t0001g0255 a0062c0074t0001g0295 a0063c0071t0001g0317 a0064c0067t0001g0297 a0065c0063t0001g0291 a0066c0065t0001g0335 a0067c0064t0001g0296 a0068c0062t0001g0271 a0069c0060t0001g0287 a0070c0072t0001g0006 a0071c0075t0001g0324 a0072c0053t0002g0021 a0073c0094t0008g0073 a0074c0098t0001g0194 a0075c0097t0001g0192 a0076c0095t0001g0195 a0077c0100t0001g0197 a0078c0093t0001g0203 a0079c0086t0001g0074 a0080c0089t0001g0076 a0081c0088t0001g0078 a0082c0090t0001g0080 a0083c0092t0001g0075 a0084c0143t0002g0171 a0085c0142t0002g0162 a0086c0103t0002g0152 a0087c0140t0002g0095 a0088c0108t0002g0101 a0089c0107t0002g0148 a0090c0110t0002g0040 a0091c0134t0002g0019 a0092c0112t0002g0098 a0093c0114t0002g0125 a0094c0117t0002g0181 a0095c0120t0002g0064 a0096c0139t0004g0088 a0097c0119t0002g0153 a0098c0138t0004g0086 a0099c0136t0002g0133 a0100c0128t0002g0072 a0101c0129t0002g0115 a0102c0127t0003g0033 a0103c0130t0002g0036 a0104c0125t0002g0103 a0105c0123t0002g0041 a0106c0122t0002g0015 a0107c0121t0002g0111 a0108c0116t0002g0058 a0109c0115t0002g0062 a0110c0135t0002g0001 a0111c0137t0001g0087 a0112c0111t0003g0047 a0113c0105t0002g0113 a0115c0144t0002g0105	341	342	0.9971	12	c.573 others(21): Show c.5737_5738insATGCCCTACTGC	p.Leu others(27): Show p.Leu1912_Arg1913insHisAlaLeuLeu	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	21/43	6318/14876	5738/14262	1913/4753	INFO_REALIGN_3_PRIME	chr11	TogoVar
DOCK10_chr2_224760090_225047468	224874699	A A	AGAATCTG others(14): Show AGAATCTGTTTCCTCTGGCGTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01975.hp1 HG01975.hp1	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0005 a0016c0027t0005	a0016c0027t0005g0010 a0016c0027t0005g0010	1	172	0.0058	21	c.963 others(28): Show c.963_983dupCACGCCAGAGGAAACAGATTC	p.Ser others(34): Show p.Ser328_Ser329insThrProGluGluThrAspSer	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	9/56	1077/7286	983/6561	328/2186		chr2	TogoVar
DRD4_chr11_632269_645706	640023	C C	CGGCCCCG others(89): Show CGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCG GCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02148.hp1 HG02148.hp1	a0030 a0030	a0030c0037 a0030c0037	a0030c0037t0001 a0030c0037t0001	a0030c0037t0001g0029 a0030c0037t0001g0029	1	421	0.0024	96	c.869 others(103): Show c.869_870insTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCC GGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAG GACCCCTG	p.Cys others(109): Show p.Cys290_Gly291insGlyProAspCysAlaProProAlaProGlyLe uProArgGlyProCysGlyProAspCysAlaProAlaAlaProSerLeuP roGlnAspProCys	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	906/1399	870/1260	290/419	INFO_REALIGN_3_PRIME	chr11	TogoVar
DRD4_chr11_632269_645706	640113	C C	CCCCTGCG others(89): Show CCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACC CCTGCGGCTCCAACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02886.hp1 HG02886.hp1	a0029 a0029	a0029c0035 a0029c0035	a0029c0035t0001 a0029c0035t0001	a0029c0035t0001g0053 a0029c0035t0001g0053	1	421	0.0024	96	c.932 others(103): Show c.932_933insGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCC CCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCC AACTGTGC	p.Ala others(109): Show p.Ala311_Pro312insProProAlaProGlyLeuProArgGlyProCy sGlyProAspCysAlaProProAlaProGlyLeuProProAspProCysG lySerAsnCysAla	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	969/1399	933/1260	311/419	INFO_REALIGN_3_PRIME	chr11	TogoVar
DRD4_chr11_632269_645706	640119	C C	CGGCCCCG others(41): Show CGGCCCCGACTGTGCGCCTCCCGCGCCCGGCCTTCCCCGGGGTCCCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA20300.hp1 NA20300.hp1	a0026 a0026	a0026c0038 a0026c0038	a0026c0038t0005 a0026c0038t0005	a0026c0038t0005g0044 a0026c0038t0005g0044	1	421	0.0024	48	c.887 others(55): Show c.887_888insTCCCGCGCCCGGCCTTCCCCGGGGTCCCTGTGGCCCCG ACTGTGCGCC	p.Pro others(61): Show p.Pro296_Pro297insProAlaProGlyLeuProArgGlyProCysGl yProAspCysAlaPro	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	924/1399	888/1260	296/419	INFO_REALIGN_3_PRIME	chr11	TogoVar
DRD4_chr11_632269_645706	640138	C C	CCCGCGCC others(89): Show CCCGCGCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCC CGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02015.hp1 NA18939.hp1 HG02015.hp1 NA18939.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0010 a0013c0020t0001g0010	2	421	0.0048	96	c.907 others(103): Show c.907_908insAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCC GGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCGG CCTCCCCC	p.Pro others(109): Show p.Pro302_Pro303insGlnAspProCysGlyProAspCysAlaProPr oAlaProGlyLeuProArgGlyProCysGlyProAspCysAlaProAlaA laProGlyLeuPro	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	944/1399	908/1260	303/419	INFO_REALIGN_3_PRIME	chr11	TogoVar
DSPP_chr4_87603529_87621873	87614680	A A	ATAGCAGT others(11): Show ATAGCAGTGACAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(166): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG02922.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA20752.hp2 NA20805.hp1	a0002 a0003 a0006 others(10): Show a0002 a0003 a0006 a0008 a0013 a0015 a0029 a0047 a0048 a0050 a0051 a0052 a0053	a0002c0002 a0002c0043 a0003c0003 others(14): Show a0002c0002 a0002c0043 a0003c0003 a0003c0063 a0003c0064 a0006c0007 a0006c0008 a0008c0009 a0013c0014 a0015c0019 a0029c0034 a0047c0066 a0048c0065 a0050c0045 a0051c0044 a0052c0042 a0053c0041	a0002c0002t0001 a0002c0043t0001 a0003c0003t0001 others(14): Show a0002c0002t0001 a0002c0043t0001 a0003c0003t0001 a0003c0063t0001 a0003c0064t0001 a0006c0007t0001 a0006c0008t0001 a0008c0009t0001 a0013c0014t0001 a0015c0019t0001 a0029c0034t0001 a0047c0066t0001 a0048c0065t0001 a0050c0045t0001 a0051c0044t0001 a0052c0042t0001 a0053c0041t0001	a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0028 others(30): Show a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0028 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0043t0001g0003 a0003c0003t0001g0001 a0003c0003t0001g0010 a0003c0003t0001g0039 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0063t0001g0079 a0003c0064t0001g0001 a0006c0007t0001g0001 a0006c0007t0001g0011 a0006c0007t0001g0070 a0006c0007t0001g0072 a0006c0008t0001g0001 a0008c0009t0001g0011 a0013c0014t0001g0001 a0015c0019t0001g0003 a0029c0034t0001g0001 a0029c0034t0001g0010 a0047c0066t0001g0001 a0048c0065t0001g0071 a0050c0045t0001g0006 a0051c0044t0001g0006 a0052c0042t0001g0006 a0053c0041t0001g0003	169	450	0.3756	18	c.203 others(27): Show c.2036_2053dupGTAGCAGTGACAGCAGCA	p.Ser others(13): Show p.Ser679_Ser684dup	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2174/4331	2054/3906	685/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615305	T T	TAGTAGTG others(2): Show TAGTAGTGAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(308): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(34): Show a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0018 a0019 a0020 a0023 a0028 a0029 a0030 a0031 a0032 a0040 a0041 a0042 a0043 a0044 a0047 a0048 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058	a0002c0002 a0002c0043 a0003c0003 others(48): Show a0002c0002 a0002c0043 a0003c0003 a0003c0063 a0003c0064 a0004c0005 a0004c0010 a0004c0011 a0004c0023 a0006c0007 a0006c0008 a0007c0006 a0007c0015 a0007c0070 a0008c0009 a0009c0016 a0009c0037 a0010c0022 a0010c0026 a0012c0018 a0012c0040 a0013c0014 a0014c0012 a0015c0019 a0018c0020 a0019c0024 a0020c0036 a0020c0068 a0020c0075 a0023c0027 a0028c0033 a0029c0034 a0030c0028 a0031c0038 a0032c0035 a0040c0061 a0041c0062 a0042c0067 a0043c0046 a0044c0039 a0047c0066 a0048c0065 a0050c0045 a0051c0044 a0052c0042 a0053c0041 a0054c0069 a0055c0072 a0056c0071 a0057c0074 a0058c0073	a0002c0002t0001 a0002c0043t0001 a0003c0003t0001 others(48): Show a0002c0002t0001 a0002c0043t0001 a0003c0003t0001 a0003c0063t0001 a0003c0064t0001 a0004c0005t0001 a0004c0010t0001 a0004c0011t0001 a0004c0023t0001 a0006c0007t0001 a0006c0008t0001 a0007c0006t0001 a0007c0015t0001 a0007c0070t0001 a0008c0009t0001 a0009c0016t0001 a0009c0037t0001 a0010c0022t0001 a0010c0026t0001 a0012c0018t0001 a0012c0040t0001 a0013c0014t0001 a0014c0012t0001 a0015c0019t0001 a0018c0020t0001 a0019c0024t0001 a0020c0036t0001 a0020c0068t0001 a0020c0075t0001 a0023c0027t0001 a0028c0033t0001 a0029c0034t0001 a0030c0028t0001 a0031c0038t0001 a0032c0035t0001 a0040c0061t0001 a0041c0062t0003 a0042c0067t0001 a0043c0046t0001 a0044c0039t0001 a0047c0066t0001 a0048c0065t0001 a0050c0045t0001 a0051c0044t0001 a0052c0042t0001 a0053c0041t0001 a0054c0069t0001 a0055c0072t0001 a0056c0071t0001 a0057c0074t0001 a0058c0073t0001	a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0028 others(91): Show a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0028 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0043t0001g0003 a0003c0003t0001g0001 a0003c0003t0001g0010 a0003c0003t0001g0039 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0063t0001g0079 a0003c0064t0001g0001 a0004c0005t0001g0005 a0004c0005t0001g0007 a0004c0005t0001g0008 a0004c0005t0001g0027 a0004c0005t0001g0031 a0004c0005t0001g0049 a0004c0005t0001g0059 a0004c0005t0001g0060 a0004c0005t0001g0065 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0011t0001g0005 a0004c0011t0001g0008 a0004c0011t0001g0050 a0004c0023t0001g0008 a0006c0007t0001g0001 a0006c0007t0001g0011 a0006c0007t0001g0070 a0006c0007t0001g0072 a0006c0008t0001g0001 a0007c0006t0001g0016 a0007c0006t0001g0017 a0007c0006t0001g0018 a0007c0006t0001g0020 a0007c0006t0001g0021 a0007c0006t0001g0037 a0007c0006t0001g0064 a0007c0015t0001g0015 a0007c0070t0001g0037 a0008c0009t0001g0011 a0009c0016t0001g0035 a0009c0016t0001g0036 a0009c0016t0001g0062 a0009c0016t0001g0067 a0009c0016t0001g0068 a0009c0037t0001g0016 a0009c0037t0001g0018 a0010c0022t0001g0007 a0010c0026t0001g0007 a0012c0018t0001g0014 a0012c0040t0001g0014 a0013c0014t0001g0001 a0014c0012t0001g0022 a0014c0012t0001g0080 a0015c0019t0001g0003 a0018c0020t0001g0013 a0019c0024t0001g0016 a0019c0024t0001g0017 a0019c0024t0001g0036 a0020c0036t0001g0043 a0020c0036t0001g0046 a0020c0068t0001g0056 a0020c0075t0001g0045 a0023c0027t0001g0027 a0028c0033t0001g0047 a0028c0033t0001g0048 a0029c0034t0001g0001 a0029c0034t0001g0010 a0030c0028t0001g0040 a0031c0038t0001g0020 a0032c0035t0001g0030 a0040c0061t0001g0052 a0041c0062t0003g0053 a0042c0067t0001g0005 a0043c0046t0001g0054 a0044c0039t0001g0014 a0047c0066t0001g0001 a0048c0065t0001g0071 a0050c0045t0001g0006 a0051c0044t0001g0006 a0052c0042t0001g0006 a0053c0041t0001g0003 a0054c0069t0001g0058 a0055c0072t0001g0015 a0056c0071t0001g0044 a0057c0074t0001g0069 a0058c0073t0001g0063	311	450	0.6911	9	c.264 others(18): Show c.2645_2646insTAGTGACAG	p.Ser others(22): Show p.Ser882_Ser883insSerAspSer	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2766/4331	2646/3906	882/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615749	C C	CAGCAGTG others(11): Show CAGCAGTGACAGCAGCGAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02080.hp1 HG02080.hp1	a0038 a0038	a0038c0051 a0038c0051	a0038c0051t0002 a0038c0051t0002	a0038c0051t0002g0004 a0038c0051t0002g0004	1	450	0.0022	18	c.313 others(27): Show c.3138_3155dupCGATAGCAGTGACAGCAG	p.Ser others(33): Show p.Ser1052_Asp1053insAspSerSerAspSerSer	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3276/4331	3156/3906	1052/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615782	C C	CGATAGCA others(182): Show CGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATA GCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGT GACAGCAGCGACAGCAGTGATAGCAGTGAAAGCAGTGATAGCAGTGACAG CAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03942.hp2 NA20905.hp1 HG03942.hp2 NA20905.hp1	a0027 a0027	a0027c0031 a0027c0031	a0027c0031t0002 a0027c0031t0002	a0027c0031t0002g0004 a0027c0031t0002g0004	2	450	0.0044	189	c.329 others(198): Show c.3290_3291insTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAG CGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACA GCAGCGACAGCAGTGATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT GATAGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCAATAGCAGTGACAG CAG	p.Ser others(204): Show p.Ser1097_Asp1098insAspSerSerAspSerSerAspSerSerAsp SerSerAspSerSerAspSerSerAspSerSerAsnSerSerAspSerSe rAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspS erSerAspSerSerGluSerSerAspSerSerAspSerSerAsnSerSer AspSerSer	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3411/4331	3291/3906	1097/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616151	C C	CGACAGCA others(2): Show CGACAGCAGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02055.hp2 HG02647.hp1 HG02818.hp2 others(3): Show HG02055.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0022 a0014c0012t0001g0080 a0014c0012t0001g0022 a0014c0012t0001g0080	6	450	0.0133	9	c.349 others(18): Show c.3491_3492insCAGCAGTGA	p.Asp others(24): Show p.Asp1164_Ser1165insSerSerAsp	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3612/4331	3492/3906	1164/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DUSP8_chr11_1549051_1577271	1557337	G G	GCTCAGGC others(8): Show GCTCAGGCCGCCCTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp1 HG02258.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0005 a0007c0025t0005	a0007c0025t0005g0123 a0007c0025t0005g0123	1	367	0.0027	15	c.104 others(24): Show c.1044_1058dupGGAGGGCGGCCTGAG	p.Arg others(13): Show p.Arg348_Leu352dup	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding	7/7	1537/4824	1058/1878	353/625		chr11	TogoVar
DYSF_chr2_71461699_71691763	71574204	C C	CAGGCGG CAGGCGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG03669.hp1 HG01081.hp2 HG03669.hp1	a0005 a0005	a0005c0034 a0005c0035 a0005c0034 a0005c0035	a0005c0034t0002 a0005c0035t0001 a0005c0034t0002 a0005c0035t0001	a0005c0034t0002g0153 a0005c0035t0001g0122 a0005c0034t0002g0153 a0005c0035t0001g0122	2	208	0.0096	6	c.324 others(15): Show c.3245_3250dupCGGAGG	p.Ala others(15): Show p.Ala1082_Glu1083dup	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	30/56	3395/6775	3251/6360	1084/2119	INFO_REALIGN_3_PRIME	chr2	TogoVar
E2F4_chr16_67187155_67203918	67195890	A A	ACAG ACAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01361.hp1 HG02148.hp1 HG02257.hp1 others(4): Show HG01361.hp1 HG02148.hp1 HG02257.hp1 HG02300.hp1 NA18966.hp2 NA18983.hp1 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 others(1): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0009	a0003c0004t0001g0001 a0003c0004t0002g0006 a0003c0004t0003g0012 others(1): Show a0003c0004t0001g0001 a0003c0004t0002g0006 a0003c0004t0003g0012 a0003c0004t0009g0029	7	320	0.0219	3	c.956 others(10): Show c.956_958dupGCA	p.Ser others(6): Show p.Ser319dup	E2F4	ENSG00000205250.9	transcript	ENST00000379378.8	protein_coding	7/10	1032/2110	959/1242	320/413	INFO_REALIGN_3_PRIME	chr16	TogoVar
E2F4_chr16_67187155_67203918	67195890	A A	ACAGCAG ACAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp1 HG02809.hp1 HG03139.hp2 HG01884.hp1 HG02809.hp1 HG03139.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0003 a0007c0008t0002 a0007c0008t0003	a0007c0008t0002g0032 a0007c0008t0002g0033 a0007c0008t0003g0012 a0007c0008t0002g0032 a0007c0008t0002g0033 a0007c0008t0003g0012	3	320	0.0094	6	c.953 others(13): Show c.953_958dupGCAGCA	p.Ser others(13): Show p.Ser318_Ser319dup	E2F4	ENSG00000205250.9	transcript	ENST00000379378.8	protein_coding	7/10	1032/2110	959/1242	320/413	INFO_REALIGN_3_PRIME	chr16	TogoVar
E2F4_chr16_67187155_67203918	67195890	A A	ACAGCAGC others(2): Show ACAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02132.hp1 HG02622.hp1 HG02818.hp1 others(5): Show HG02132.hp1 HG02622.hp1 HG02818.hp1 HG02896.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0004 a0002c0003t0001g0001 a0002c0003t0001g0004	8	320	0.0250	9	c.950 others(16): Show c.950_958dupGCAGCAGCA	p.Ser others(13): Show p.Ser317_Ser319dup	E2F4	ENSG00000205250.9	transcript	ENST00000379378.8	protein_coding	7/10	1032/2110	959/1242	320/413	INFO_REALIGN_3_PRIME	chr16	TogoVar
E2F4_chr16_67187155_67203918	67195890	A A	ACAGCAGC others(5): Show ACAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02486.hp1 HG02486.hp2 HG02886.hp1 others(1): Show HG02486.hp1 HG02486.hp2 HG02886.hp1 HG04199.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0004 a0005c0006t0001g0001 a0005c0006t0001g0004	4	320	0.0125	12	c.947 others(19): Show c.947_958dupGCAGCAGCAGCA	p.Ser others(13): Show p.Ser316_Ser319dup	E2F4	ENSG00000205250.9	transcript	ENST00000379378.8	protein_coding	7/10	1032/2110	959/1242	320/413	INFO_REALIGN_3_PRIME	chr16	TogoVar
EBLN1_chr10_22203475_22223015	22209555	C C	CAGA CAGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(133): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp2 NA18987.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19062.hp1 NA19068.hp1 NA19072.hp1 NA19082.hp1 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(6): Show a0002 a0003 a0005 a0006 a0008 a0012 a0013 a0014 a0015	a0002c0002 a0002c0010 a0003c0003 others(7): Show a0002c0002 a0002c0010 a0003c0003 a0005c0007 a0006c0006 a0008c0020 a0012c0017 a0013c0018 a0014c0016 a0015c0015	a0002c0002t0002 a0002c0002t0006 a0002c0002t0008 others(12): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0008 a0002c0010t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0009 a0005c0007t0003 a0006c0006t0003 a0008c0020t0006 a0012c0017t0003 a0013c0018t0003 a0014c0016t0012 a0015c0015t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0006 others(29): Show a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0006g0014 a0002c0002t0008g0034 a0002c0010t0002g0026 a0003c0003t0004g0016 a0003c0003t0004g0017 a0003c0003t0004g0030 a0003c0003t0004g0069 a0003c0003t0005g0021 a0003c0003t0005g0032 a0003c0003t0007g0020 a0003c0003t0009g0056 a0005c0007t0003g0018 a0006c0006t0003g0031 a0006c0006t0003g0070 a0008c0020t0006g0063 a0012c0017t0003g0071 a0013c0018t0003g0072 a0014c0016t0012g0068 a0015c0015t0002g0065	136	432	0.3148	3	c.426 others(10): Show c.426_428dupTCT	p.Leu others(6): Show p.Leu143dup	EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	3/3	696/1777	428/1101	143/366		chr10	TogoVar
EBLN2_chr3_73056659_73068337	73062352	T T	TTGG TTGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp2 HG01243.hp1 HG03710.hp1 others(2): Show HG00738.hp2 HG01243.hp1 HG03710.hp1 HG03834.hp2 NA20805.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0000 a0005c0006t0002g0000	5	428	0.0117	3	c.272 others(10): Show c.272_274dupTGG	p.Leu others(14): Show p.Leu91_Glu92insVal	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding	1/1	698/1679	275/819	92/272	INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF2AK4_chr15_39929115_40040591	39976797	G G	GGACGAC GGACGAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00544.hp2 HG00609.hp1 HG01074.hp2 others(24): Show HG00544.hp2 HG00609.hp1 HG01074.hp2 HG01106.hp2 HG01168.hp1 HG01978.hp2 HG01981.hp1 HG02615.hp1 HG02698.hp1 HG02717.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp2 NA18972.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19075.hp2 NA19081.hp2	a0004 a0004	a0004c0006 a0004c0007 a0004c0037 a0004c0006 a0004c0007 a0004c0037	a0004c0006t0001 a0004c0006t0002 a0004c0006t0003 others(6): Show a0004c0006t0001 a0004c0006t0002 a0004c0006t0003 a0004c0006t0004 a0004c0006t0006 a0004c0007t0001 a0004c0007t0002 a0004c0007t0003 a0004c0037t0001	a0004c0006t0001g0211 a0004c0006t0001g0255 a0004c0006t0001g0256 others(24): Show a0004c0006t0001g0211 a0004c0006t0001g0255 a0004c0006t0001g0256 a0004c0006t0001g0260 a0004c0006t0001g0262 a0004c0006t0002g0212 a0004c0006t0002g0254 a0004c0006t0003g0345 a0004c0006t0004g0249 a0004c0006t0004g0250 a0004c0006t0004g0266 a0004c0006t0006g0252 a0004c0006t0006g0253 a0004c0006t0006g0261 a0004c0007t0001g0213 a0004c0007t0001g0214 a0004c0007t0001g0216 a0004c0007t0001g0217 a0004c0007t0001g0228 a0004c0007t0001g0251 a0004c0007t0001g0265 a0004c0007t0002g0215 a0004c0007t0002g0248 a0004c0007t0002g0263 a0004c0007t0002g0267 a0004c0007t0003g0259 a0004c0037t0001g0274	27	368	0.0734	6	c.220 others(15): Show c.2208_2213dupCGACGA	p.Asp others(13): Show p.Asp736_Asp737dup	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	12/39	2295/5538	2214/4950	738/1649	INFO_REALIGN_3_PRIME	chr15	TogoVar
ELN_chr7_74023173_74074907	74065957	T T	TGGAGGTG others(5): Show TGGAGGTGTCCTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18994.hp2 NA18994.hp2	a0016 a0016	a0016c0013 a0016c0013	a0016c0013t0001 a0016c0013t0001	a0016c0013t0001g0276 a0016c0013t0001g0276	1	366	0.0027	12	c.204 others(21): Show c.2049_2060dupAGGTGTCCTAGG	p.Gly others(25): Show p.Gly687_Gly688insGlyValLeuGly	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	31/33	2076/3397	2061/2175	687/724	INFO_REALIGN_3_PRIME	chr7	TogoVar
EME1_chr17_50368229_50386483	50375617	A A	AAGC AAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG00280.hp2 HG00558.hp1 others(152): Show HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18942.hp1 NA18946.hp1 NA18951.hp2 NA18953.hp1 NA18959.hp1 NA18963.hp1 NA18971.hp2 NA18973.hp2 NA18984.hp1 NA18985.hp2 NA19003.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0003 a0004 a0006 others(8): Show a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0016 a0017	a0003c0003 a0004c0004 a0006c0006 others(8): Show a0003c0003 a0004c0004 a0006c0006 a0007c0007 a0008c0008 a0009c0009 a0010c0010 a0012c0012 a0013c0013 a0016c0014 a0017c0018	a0003c0003t0001 a0004c0004t0001 a0006c0006t0001 others(10): Show a0003c0003t0001 a0004c0004t0001 a0006c0006t0001 a0006c0006t0009 a0007c0007t0001 a0008c0008t0002 a0009c0009t0001 a0010c0010t0001 a0012c0012t0001 a0012c0012t0007 a0013c0013t0003 a0016c0014t0002 a0017c0018t0001	a0003c0003t0001g0004 a0003c0003t0001g0014 a0003c0003t0001g0019 others(26): Show a0003c0003t0001g0004 a0003c0003t0001g0014 a0003c0003t0001g0019 a0003c0003t0001g0023 a0003c0003t0001g0035 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0051 a0004c0004t0001g0003 a0004c0004t0001g0036 a0004c0004t0001g0037 a0004c0004t0001g0052 a0006c0006t0001g0005 a0006c0006t0001g0025 a0006c0006t0001g0053 a0006c0006t0009g0005 a0007c0007t0001g0006 a0008c0008t0002g0010 a0009c0009t0001g0013 a0009c0009t0001g0044 a0010c0010t0001g0012 a0010c0010t0001g0032 a0012c0012t0001g0049 a0012c0012t0007g0050 a0013c0013t0003g0024 a0016c0014t0002g0010 a0017c0018t0001g0043	155	384	0.4037	3	c.410 others(10): Show c.410_412dupAGC	p.Lys others(16): Show p.Lys137_Pro138insGln	EME1	ENSG00000154920.15	transcript	ENST00000338165.9	protein_coding	2/9	486/2330	413/1713	138/570	INFO_REALIGN_3_PRIME	chr17	TogoVar
ENAH_chr1_225481829_225658123	225519331	A A	ATCCAGGC others(11): Show ATCCAGGCGTTCCTGCCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01074.hp1 HG01258.hp2 HG02074.hp2 others(5): Show HG01074.hp1 HG01258.hp2 HG02074.hp2 HG02080.hp1 HG02602.hp2 HG02622.hp1 NA18957.hp1 NA19082.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0008 a0003c0004t0011 others(5): Show a0003c0004t0004 a0003c0004t0008 a0003c0004t0011 a0003c0004t0019 a0003c0004t0037 a0003c0004t0051 a0003c0004t0062 a0003c0004t0092	a0003c0004t0004g0258 a0003c0004t0008g0298 a0003c0004t0011g0197 others(5): Show a0003c0004t0004g0258 a0003c0004t0008g0298 a0003c0004t0011g0197 a0003c0004t0019g0235 a0003c0004t0037g0192 a0003c0004t0051g0236 a0003c0004t0062g0016 a0003c0004t0092g0061	8	308	0.0260	18	c.651 others(25): Show c.651_668dupGCGGCAGGAACGCCTGGA	p.Glu others(13): Show p.Glu217_Leu222dup	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	5/14	1101/13092	668/1713	223/570		chr1	TogoVar
ENO3_chr17_4946119_4962129	4952833	G G	GTAGCTTG others(17): Show GTAGCTTGGCTGGAACTAAGAGACA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18985.hp2 NA18985.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0055 a0006c0010t0001g0055	1	440	0.0023	24	c.124 others(31): Show c.124_125insTAGCTTGGCTGGAACTAAGAGACA	p.Gly others(35): Show p.Gly42delinsValAlaTrpLeuGluLeuArgAspSer	ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding	3/12	191/1453	125/1305	42/434		chr17	TogoVar
EOMES_chr3_27710953_27727323	27721914	C C	CGCG CGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp1 HG03195.hp2 HG03225.hp1 others(4): Show HG01884.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1 NA19043.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0003 a0003c0004t0001 a0003c0004t0003	a0003c0004t0001g0036 a0003c0004t0003g0014 a0003c0004t0001g0036 a0003c0004t0003g0014	7	400	0.0175	3	c.378 others(10): Show c.378_380dupCGC	p.Ala others(6): Show p.Ala127dup	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding	1/6	409/3264	380/2118	127/705		chr3	TogoVar
EP400_chr12_131944942_132085460	132062523	G G	GGCA GGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp1 HG00438.hp2 HG00597.hp2 others(75): Show HG00280.hp1 HG00438.hp2 HG00597.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03654.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18993.hp2 NA18995.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19043.hp1 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0003 a0008 others(7): Show a0001 a0003 a0008 a0014 a0015 a0019 a0025 a0026 a0027 a0028	a0001c0003 a0001c0006 a0001c0018 others(26): Show a0001c0003 a0001c0006 a0001c0018 a0001c0021 a0001c0025 a0001c0026 a0001c0039 a0001c0046 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0066 a0001c0069 a0003c0004 a0003c0008 a0003c0013 a0003c0016 a0003c0030 a0003c0047 a0008c0017 a0008c0050 a0014c0032 a0015c0027 a0019c0049 a0025c0070 a0026c0071 a0027c0031 a0028c0072	a0001c0003t0002 a0001c0003t0014 a0001c0006t0001 others(32): Show a0001c0003t0002 a0001c0003t0014 a0001c0006t0001 a0001c0006t0005 a0001c0018t0001 a0001c0018t0005 a0001c0021t0002 a0001c0021t0006 a0001c0025t0001 a0001c0026t0002 a0001c0039t0001 a0001c0046t0001 a0001c0056t0001 a0001c0057t0012 a0001c0058t0002 a0001c0059t0002 a0001c0066t0001 a0001c0069t0002 a0003c0004t0002 a0003c0008t0001 a0003c0008t0011 a0003c0013t0001 a0003c0013t0006 a0003c0016t0001 a0003c0030t0002 a0003c0047t0001 a0008c0017t0001 a0008c0050t0001 a0014c0032t0002 a0015c0027t0005 a0019c0049t0001 a0025c0070t0001 a0026c0071t0002 a0027c0031t0001 a0028c0072t0001	a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0004 others(75): Show a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0004 a0001c0003t0002g0006 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 a0001c0003t0002g0011 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0018 a0001c0003t0002g0019 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0067 a0001c0003t0002g0104 a0001c0003t0002g0128 a0001c0003t0014g0007 a0001c0006t0001g0169 a0001c0006t0001g0170 a0001c0006t0001g0173 a0001c0006t0001g0175 a0001c0006t0001g0178 a0001c0006t0001g0196 a0001c0006t0005g0199 a0001c0006t0005g0200 a0001c0018t0001g0204 a0001c0018t0005g0203 a0001c0021t0002g0047 a0001c0021t0006g0056 a0001c0025t0001g0202 a0001c0026t0002g0201 a0001c0039t0001g0084 a0001c0046t0001g0159 a0001c0056t0001g0172 a0001c0057t0012g0171 a0001c0058t0002g0046 a0001c0059t0002g0052 a0001c0066t0001g0073 a0001c0069t0002g0061 a0003c0004t0002g0050 a0003c0004t0002g0053 a0003c0004t0002g0058 a0003c0004t0002g0059 a0003c0004t0002g0060 a0003c0004t0002g0062 a0003c0004t0002g0063 a0003c0004t0002g0066 a0003c0004t0002g0069 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0008t0001g0158 a0003c0008t0001g0160 a0003c0008t0001g0162 a0003c0008t0001g0166 a0003c0008t0001g0194 a0003c0008t0011g0167 a0003c0013t0001g0141 a0003c0013t0006g0054 a0003c0013t0006g0055 a0003c0016t0001g0101 a0003c0016t0001g0181 a0003c0030t0002g0064 a0003c0047t0001g0070 a0008c0017t0001g0168 a0008c0017t0001g0176 a0008c0050t0001g0177 a0014c0032t0002g0022 a0015c0027t0005g0205 a0019c0049t0001g0198 a0025c0070t0001g0197 a0026c0071t0002g0065 a0027c0031t0001g0072 a0028c0072t0001g0161	78	208	0.3750	3	c.817 others(12): Show c.8175_8177dupGCA	p.Gln others(7): Show p.Gln2726dup	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	47/53	8308/12289	8178/9372	2726/3123	INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132062542	G G	GCAGCAA GCAGCAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01167.hp1 HG01169.hp2 HG01891.hp2 others(7): Show HG01167.hp1 HG01169.hp2 HG01891.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp2	a0004 a0006 a0004 a0006	a0004c0009 a0004c0023 a0006c0010 others(2): Show a0004c0009 a0004c0023 a0006c0010 a0006c0024 a0006c0064	a0004c0009t0004 a0004c0023t0001 a0006c0010t0004 others(2): Show a0004c0009t0004 a0004c0023t0001 a0006c0010t0004 a0006c0024t0013 a0006c0064t0006	a0004c0009t0004g0078 a0004c0009t0004g0079 a0004c0009t0004g0153 others(7): Show a0004c0009t0004g0078 a0004c0009t0004g0079 a0004c0009t0004g0153 a0004c0009t0004g0156 a0004c0023t0001g0151 a0006c0010t0004g0150 a0006c0010t0004g0154 a0006c0010t0004g0157 a0006c0024t0013g0152 a0006c0064t0006g0057	10	208	0.0481	6	c.817 others(15): Show c.8177_8178insGCAACA	p.Gln others(15): Show p.Gln2725_Gln2726dup	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	47/53	8308/12289	8178/9372	2726/3123	INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132062548	A A	ACAACAGC others(5): Show ACAACAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03579.hp1 HG03579.hp1	a0017 a0017	a0017c0028 a0017c0028	a0017c0028t0004 a0017c0028t0004	a0017c0028t0004g0155 a0017c0028t0004g0155	1	208	0.0048	12	c.818 others(21): Show c.8183_8184insACAGCAGCAGCA	p.Gln others(15): Show p.Gln2725_Gln2728dup	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	47/53	8314/12289	8184/9372	2728/3123	INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132062548	A A	ACAG ACAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00408.hp2 HG00642.hp1 others(25): Show HG00140.hp1 HG00408.hp2 HG00642.hp1 HG00738.hp2 HG01099.hp1 HG01169.hp1 HG01192.hp2 HG01975.hp2 HG01978.hp1 HG02129.hp1 HG02698.hp2 HG02738.hp1 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG04204.hp1 HG04204.hp2 NA18941.hp1 NA18945.hp2 NA18956.hp1 NA18957.hp2 NA19065.hp2 NA19080.hp2 NA19083.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0021 a0022 others(2): Show a0001 a0021 a0022 a0023 a0024	a0001c0002 a0001c0036 a0021c0042 others(3): Show a0001c0002 a0001c0036 a0021c0042 a0022c0043 a0023c0044 a0024c0033	a0001c0002t0001 a0001c0036t0002 a0021c0042t0001 others(3): Show a0001c0002t0001 a0001c0036t0002 a0021c0042t0001 a0022c0043t0001 a0023c0044t0001 a0024c0033t0001	a0001c0002t0001g0001 a0001c0002t0001g0025 a0001c0002t0001g0034 others(25): Show a0001c0002t0001g0001 a0001c0002t0001g0025 a0001c0002t0001g0034 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0140 a0001c0002t0001g0149 a0001c0002t0001g0179 a0001c0002t0001g0183 a0001c0002t0001g0189 a0001c0036t0002g0042 a0021c0042t0001g0144 a0022c0043t0001g0115 a0023c0044t0001g0036 a0024c0033t0001g0074	28	208	0.1346	3	c.822 others(12): Show c.8223_8225dupGCA	p.Gln others(7): Show p.Gln2742dup	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	47/53	8356/12289	8226/9372	2742/3123	INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132062548	A A	ACAGCAG ACAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00735.hp1 HG00735.hp2 HG01071.hp1 others(15): Show HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG02615.hp1 HG02698.hp1 HG03017.hp1 HG03471.hp1 HG03540.hp1 NA18906.hp1 NA18906.hp2 NA19064.hp2 NA20752.hp2 NA21309.hp2	a0004 a0006 a0007 a0004 a0006 a0007	a0004c0005 a0004c0014 a0004c0051 others(4): Show a0004c0005 a0004c0014 a0004c0051 a0004c0052 a0006c0053 a0007c0012 a0007c0055	a0004c0005t0001 a0004c0014t0007 a0004c0051t0001 others(4): Show a0004c0005t0001 a0004c0014t0007 a0004c0051t0001 a0004c0052t0002 a0006c0053t0002 a0007c0012t0001 a0007c0055t0001	a0004c0005t0001g0035 a0004c0005t0001g0137 a0004c0005t0001g0138 others(15): Show a0004c0005t0001g0035 a0004c0005t0001g0137 a0004c0005t0001g0138 a0004c0005t0001g0146 a0004c0005t0001g0147 a0004c0005t0001g0148 a0004c0005t0001g0180 a0004c0005t0001g0191 a0004c0014t0007g0163 a0004c0014t0007g0164 a0004c0014t0007g0165 a0004c0051t0001g0174 a0004c0052t0002g0051 a0006c0053t0002g0029 a0007c0012t0001g0030 a0007c0012t0001g0031 a0007c0012t0001g0032 a0007c0055t0001g0033	18	208	0.0865	6	c.822 others(15): Show c.8220_8225dupGCAGCA	p.Gln others(15): Show p.Gln2741_Gln2742dup	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	47/53	8356/12289	8226/9372	2742/3123	INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132062548	A A	ACAGCAGC others(2): Show ACAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02647.hp2 HG03098.hp1 HG03225.hp1 others(1): Show HG02647.hp2 HG03098.hp1 HG03225.hp1 NA20129.hp1	a0011 a0012 a0011 a0012	a0011c0020 a0012c0037 a0012c0054 a0011c0020 a0012c0037 a0012c0054	a0011c0020t0002 a0012c0037t0001 a0012c0054t0001 a0011c0020t0002 a0012c0037t0001 a0012c0054t0001	a0011c0020t0002g0027 a0011c0020t0002g0028 a0012c0037t0001g0095 others(1): Show a0011c0020t0002g0027 a0011c0020t0002g0028 a0012c0037t0001g0095 a0012c0054t0001g0026	4	208	0.0192	9	c.821 others(18): Show c.8217_8225dupGCAGCAGCA	p.Gln others(15): Show p.Gln2740_Gln2742dup	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	47/53	8356/12289	8226/9372	2742/3123	INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132062548	A A	ACAGCAGC others(5): Show ACAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp2 HG00280.hp2	a0018 a0018	a0018c0038 a0018c0038	a0018c0038t0001 a0018c0038t0001	a0018c0038t0001g0096 a0018c0038t0001g0096	1	208	0.0048	12	c.821 others(21): Show c.8214_8225dupGCAGCAGCAGCA	p.Gln others(15): Show p.Gln2739_Gln2742dup	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	47/53	8356/12289	8226/9372	2742/3123	INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132077601	C C	CCAG CCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00642.hp2 HG01074.hp1 HG01081.hp1 HG00642.hp2 HG01074.hp1 HG01081.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0041 a0009c0011t0001g0043 a0009c0011t0001g0044 a0009c0011t0001g0041 a0009c0011t0001g0043 a0009c0011t0001g0044	3	208	0.0144	3	c.930 others(12): Show c.9305_9307dupAGC	p.Gln others(7): Show p.Gln3102dup	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	53/53	9438/12289	9308/9372	3103/3123	INFO_REALIGN_3_PRIME	chr12	TogoVar
EPHB6_chr7_142850076_142876093	142864293	C C	CCCT CCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01106.hp1 HG01123.hp1 HG01256.hp1 others(39): Show HG01106.hp1 HG01123.hp1 HG01256.hp1 HG01261.hp1 HG01361.hp2 HG01884.hp1 HG01952.hp1 HG02040.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03831.hp2 NA18522.hp2 NA18906.hp2 NA18945.hp2 NA18957.hp1 NA19062.hp1 NA19082.hp2 NA19240.hp2 NA20752.hp2	a0002 a0013 a0014 a0002 a0013 a0014	a0002c0002 a0013c0014 a0014c0015 a0002c0002 a0013c0014 a0014c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0013c0014t0004 a0014c0015t0009	a0002c0002t0001g0046 a0002c0002t0002g0011 a0002c0002t0002g0013 others(25): Show a0002c0002t0001g0046 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0028 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0077 a0002c0002t0002g0096 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0003g0017 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0091 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0005g0012 a0002c0002t0005g0089 a0013c0014t0004g0048 a0014c0015t0009g0087	42	311	0.1351	3	c.519 others(10): Show c.519_521dupCTC	p.Ser others(6): Show p.Ser174dup	EPHB6	ENSG00000106123.12	transcript	ENST00000652003.1	protein_coding	7/20	1263/3999	522/3069	174/1022	INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHX2_chr8_27486143_27550564	27536817	A A	AGTC AGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp1 HG01070.hp1 HG01109.hp1 others(3): Show HG00639.hp1 HG01070.hp1 HG01109.hp1 HG01978.hp1 HG02523.hp1 HG02523.hp2	a0007 a0009 a0007 a0009	a0007c0012 a0007c0029 a0009c0018 a0007c0012 a0007c0029 a0009c0018	a0007c0012t0001 a0007c0029t0003 a0009c0018t0001 a0007c0012t0001 a0007c0029t0003 a0009c0018t0001	a0007c0012t0001g0299 a0007c0012t0001g0301 a0007c0012t0001g0302 others(3): Show a0007c0012t0001g0299 a0007c0012t0001g0301 a0007c0012t0001g0302 a0007c0029t0003g0348 a0009c0018t0001g0300 a0009c0018t0001g0303	6	374	0.0160	3	c.120 others(12): Show c.1206_1208dupTCG	p.Arg others(6): Show p.Arg403dup	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	13/19	1275/2776	1209/1668	403/555	INFO_REALIGN_3_PRIME	chr8	TogoVar
EPN3_chr17_50527735_50548750	50542076	A A	ACCGCCCC others(11): Show ACCGCCCCCAGCTGGCCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03453.hp1 NA21309.hp2 HG03453.hp1 NA21309.hp2	a0010 a0013 a0010 a0013	a0010c0022 a0013c0013 a0010c0022 a0013c0013	a0010c0022t0001 a0013c0013t0001 a0010c0022t0001 a0013c0013t0001	a0010c0022t0001g0051 a0013c0013t0001g0081 a0010c0022t0001g0051 a0013c0013t0001g0081	2	350	0.0057	18	c.182 others(27): Show c.1822_1823insCCCCAGCTGGCCTGCCGC	p.Pro others(31): Show p.Pro607_Gln608insProProAlaGlyLeuPro	EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding	10/10	2210/3879	1823/1899	608/632	INFO_REALIGN_3_PRIME	chr17	TogoVar
EPPK1_chr8_143852324_143883467	143864524	A A	ACGGTTCA others(3203): Show ACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT GCAGCGTCTTAGTGCCCTGGGCCAGGTCCTGCAGGGTCTCGGGGCCCAGG ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC AGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCG GCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCG CCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGC GCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCC TCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCC CGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGC CGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCC ACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCG CGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCA GCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCC CGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTA GAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGC CTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGC TGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGT GTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCT CGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCC AGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTC CACGGGCACGCGGTGGCTGTGCACGGGGTTGATGACGCCGCCCGTGGCGA TCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTC TGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTA GCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGC CCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGC ACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAG GGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCA TCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCG ATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCAC CTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGC CCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGG CCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCG GGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCT GGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGG ACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTC CATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGG CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCAC GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT CGGCCAGGACG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03491.hp2 HG03491.hp2	a0269 a0269	a0269c0123 a0269c0123	a0269c0123t0002 a0269c0123t0002	a0269c0123t0002g0337 a0269c0123t0002g0337	1	424	0.0024	3210	c.872 others(3219): Show c.8729_8730insCGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTT CTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCC GCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGC CGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCG CGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCT CCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAG GACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGG CGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCG AGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCG GCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGT GTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGC TGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGC CGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCC GCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGC GAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGC GAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGA GCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGG GGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAG GCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCT GCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGC GGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCC GAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGC CCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGC GCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAG GACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAA GGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGG CCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAG GAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCT GTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGC AGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCAC GGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCAACCC CGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACT TCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAG GGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCT GCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGG CAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCC CTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAG CGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGC GCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAG CTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCG GGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGC GTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTG CCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGA GGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGA CCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCC CGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGC CGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGG AGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGC CAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTT CCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGA GCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTG GGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGA GGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCG CCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCAGGAC CTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGT CAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCG CCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATG TGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCA GGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGG TGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAG CTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGG GCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGG AGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATC GACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGG CTACTTCGACGAGGAGATGAACCG	p.Arg others(3225): Show p.Arg2910_Val2911insValLeuAlaAspProSerAspAspThrLys GlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLe uArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuA laGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAla LeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSe rValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgA rgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGlu LeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaAr gAlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuA rgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaVal ProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGl uGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuT hrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAla ArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAl aGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyG luGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArg GlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPh eGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuS erGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeu GlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGl uGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerA laSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAsp LeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerVa lLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProA laLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMet TrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGl nAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerV alGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLys LeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGl yGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgG luHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIle AsnProValHisSerHisArgValProValAspValAlaTyrArgArgGl yTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspT hrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGln LeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGl nLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgC ysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGly GlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAs pArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValG luGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGln AlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAl aLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgA laValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAla ArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAl aLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProG lyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGly ProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGl nGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaA rgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGly GlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTy rLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyA laLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGlu ThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnVa lSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuG lnAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAsp SerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVa lProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnA laMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGlu AlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLe uSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnG luLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyr ThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVa lArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyV alIleAspProValHisSerHisArgValProValAspValAlaTyrArg ArgGlyTyrPheAspGluGluMetAsnArg	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	8804/16005	8729/15267	2910/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865718	G G	GTCTGGGC others(3203): Show GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAACCCTTGGTGTCGTCGCTG GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG CGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC CCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC CGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGC CTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGG TCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCG GACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTG GAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCA GCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGC ATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCAC GTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGT CGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGC CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG GGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCT GGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGC CCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCC GGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCG CGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGG GCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGC GCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGG CCTCCCGGGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18957.hp1 NA18957.hp1	a0239 a0239	a0239c0076 a0239c0076	a0239c0076t0002 a0239c0076t0002	a0239c0076t0002g0292 a0239c0076t0002g0292	1	424	0.0024	3210	c.753 others(3219): Show c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG CCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTG TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG CCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG AACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG CCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATG GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT GCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCG AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCA GGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACG GCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAG GAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCA AGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCAC ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT GCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT TCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG AGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGTTTCTTC GACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGC CGAGGCCGGGAGCCCGCGCCCAGA	p.Pro others(3225): Show p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs pLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuS erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl uAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaA laThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVal TrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLe uLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgA rgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPro GlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyAr gGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyG luThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGlu GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr gLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerG luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg AlaGluAlaGluAlaGlySerProArgPro	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7610/16005	7535/15267	2512/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865718	G G	GTCTGGGC others(1598): Show GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCGC GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG CGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC CCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC CGGGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01361.hp2 HG01361.hp2	a0273 a0273	a0273c0090 a0273c0090	a0273c0090t0007 a0273c0090t0007	a0273c0090t0007g0372 a0273c0090t0007g0372	1	424	0.0024	1605	c.753 others(1614): Show c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG CCGTCCTCACCCGGGTCATCGCGGAGACGGAGGAGCGGCTCAGCAAGGTG TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG CCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG AACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG CCGGGAGCCCGCGCCCAGA	p.Pro others(1620): Show p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs pLeuValAlaValLeuThrArgValIleAlaGluThrGluGluArgLeuS erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl uAlaGluAlaGlySerProArgPro	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7610/16005	7535/15267	2512/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865718	G G	GTCTGGGC others(6410): Show GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCGC GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG CGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC CCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC CGGGGTTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGC CTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGG TCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCG GACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTG GAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCA GCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGC ATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCAC GTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGT CGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGC CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG GGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG GCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAACCCTTGGTGTC GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG CGGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCC CTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTG GCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCC CCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAG CGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCC GGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACC GCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAG GGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGG CCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCC TCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCG GTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCT GGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCA CAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAG CTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCA GCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTG GTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTA GCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGT CGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGC TCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTG CCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCA GCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCC ACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGC CTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCC ACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTG GCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTT GACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCA GGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAG GCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTC CTCCGTCTCCGCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGC CCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCG CTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTG GAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCT GGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCC TCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCC GGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCC GGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGG GTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTC CTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGG GCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCA CGCAGGGCCTCCCGGGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01106.hp1 HG01106.hp1	a0278 a0278	a0278c0074 a0278c0074	a0278c0074t0002 a0278c0074t0002	a0278c0074t0002g0195 a0278c0074t0002g0195	1	424	0.0024	6417	c.753 others(6426): Show c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG CCGTCCTCACCCGGGTCATCGCGGAGACGGAGGAGCGGCTCAGCAAGGTG TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG CCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG AACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG CCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATG GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT GCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCG AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCA GGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACG GCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAG GAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCA AGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCAC ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT GCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT TCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG AGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGTTTCTTC GACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGC CGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCA CCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGG GACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCT GGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGC TGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAG CTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGG GGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGA CCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACC CTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCC GGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCC GAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGAC CTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAG CAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGC ACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGC ACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCT GGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGC CCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTG CTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGG CTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCG TGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCC GAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTC CCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCC GCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCAC AGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGA GGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCT TCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGC TGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCG GGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCG ACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCC GTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGA CCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCG CCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAG GCCGAGGCCGGGAGCCCGCGCCCAGAACCCCGGGAGGCCCTGCGTGCGGC CACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGT GGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTG CTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCG GCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGC AGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGA GGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGA GACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGC AGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGG CGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGC CCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGC CCGACCTCGTCGCCGTCCTCACCCGGGTCATCGCGGAGACGGAGGAGCGG CTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGA GCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCC AGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGC TACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGA CCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGG GCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCC ACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGA GGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGT CGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAG ATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGG CATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCG TGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTC GACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGG CTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGC GCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCA GGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCT GCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCG TCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGC CAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCT GGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGG CCGAGGCCGAGGCCGGGAGCCCGCGCCCAGA	p.Pro others(6432): Show p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs pLeuValAlaValLeuThrArgValIleAlaGluThrGluGluArgLeuS erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl uAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaA laThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVal TrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLe uLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgA rgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPro GlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyAr gGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyG luThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGlu GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr gLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerG luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg AlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuAr gAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValP roValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGlu GluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuTh rArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaA rgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAla GlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGl uGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnG luGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGln GlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGl uAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyL euProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGlu ArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSe rGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuA laGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLys ArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLy sAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpL ysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAla AlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGl uGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuL euSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGln GlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHi sGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspP roValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyr PheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLy sGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuL euArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeu AlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAl aLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnS erValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArg ArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGl uLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaA rgAlaGluAlaGluAlaGlySerProArgProGluProArgGluAlaLeu ArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaVa lProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgG luGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeu ThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAl aArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProA laGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGly GluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgAr gGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnP heGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeu SerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLe uGlyLeuProAspLeuValAlaValLeuThrArgValIleAlaGluThrG luGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSer AlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAs pLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerV alLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValPro AlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMe tTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaG lnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSer ValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLy sLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrG lyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArg GluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIl eAspProValHisSerHisArgValProValAspValAlaTyrArgArgG lyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAsp ThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGl nLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuG lnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArg CysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGl yGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluA spArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrVal GluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGl nAlaArgAlaGluAlaGluAlaGlySerProArgPro	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7610/16005	7535/15267	2512/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865718	G G	GTCTGGGC others(4805): Show GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG CGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCT CGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTC CCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCT CCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAG TCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCT GCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCC GGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGG GGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTG GGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCA GCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGAC ACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAG GGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCT CCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATG TAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTA CGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAACCCTTGGTGTCGTCGC TGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGG TAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCC GCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGA TGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAG GGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTG GATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCC TCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCC AGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTG GTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCA GGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCC ATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAG GGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCT GGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCC TCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCC GGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACG AGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCG CGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC GGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG GCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG TGTAGGGGTCGGTGTAGCCGGTAACGGCGCGCTCGGCCGACAGCAGCTTC TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG TCTCCGCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG CGGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCC CTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTG GCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCC CCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAG CGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCC GGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACC GCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAG GGCCTCCCGGGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG04228.hp1 HG04228.hp1	a0257 a0257	a0257c0083 a0257c0083	a0257c0083t0002 a0257c0083t0002	a0257c0083t0002g0053 a0257c0083t0002g0053	1	424	0.0024	4812	c.753 others(4821): Show c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG CCGTCCTCACCCGGGTCATCGCGGAGACGGAGGAGCGGCTCAGCAAGGTG TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG CCGTTACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG AACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG CCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATG GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT GCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCG AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCA GGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACG GCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAG GAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCA AGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCAC ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT GCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT TCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG AGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGTTTCTTC GACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGC CGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCA CCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGG GACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCT GGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGC TGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAG CTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGG GGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGA CCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACC CTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCC GGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCC GAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGAC CTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAG CAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGC ACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGC ACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCT GGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGC CCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTG CTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGG CTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCG TGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCC GAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTC CCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCC GCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCAC AGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGA GGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCT TCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGC TGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCG GGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCG ACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCC GTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGA CCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCG CCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAG GCCGAGGCCGGGAGCCCGCGCCCAGA	p.Pro others(4827): Show p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs pLeuValAlaValLeuThrArgValIleAlaGluThrGluGluArgLeuS erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl uAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaA laThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVal TrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLe uLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgA rgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPro GlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyAr gGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyG luThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGlu GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr gLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerG luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg AlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuAr gAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValP roValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGlu GluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuTh rArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaA rgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAla GlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGl uGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnG luGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGln GlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGl uAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyL euProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGlu ArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSe rGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuA laGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLys ArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLy sAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpL ysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAla AlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGl uGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuL euSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGln GlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHi sGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspP roValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyr PheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLy sGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuL euArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeu AlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAl aLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnS erValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArg ArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGl uLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaA rgAlaGluAlaGluAlaGlySerProArgPro	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7610/16005	7535/15267	2512/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865718	G G	GTCTGGGC others(4805): Show GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG CGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCT CGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTC CCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCT CCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAG TCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCT GCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCC GGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGG GGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTG GGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCA GCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGAC ACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAG GGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCT CCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATG TAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTA CGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAACCCTTGGTGTCGTCGC TGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGG TAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCC GCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGA TGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAG GGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTG GATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCC TCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCC AGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTG GTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCA GGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCC ATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAG GGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCT GGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCC TCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCC GGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACG AGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCG CGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC GGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG GCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG TGTAGGGGTCGGTGTAGCCGGTAACGGCGCGCTCGGCCGACAGCAGCTTC TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA CAGCCTCAGGTTGCGCACGGGGTCGATGATGAAGCCGGTGGCCGCCTGCG CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG TCTCCGCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG CGGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCC CTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTG GCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCC CCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAG CGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCC GGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACC GCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAG GGCCTCCCGGGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp2 HG01243.hp2	a0153 a0153	a0153c0279 a0153c0279	a0153c0279t0002 a0153c0279t0002	a0153c0279t0002g0375 a0153c0279t0002g0375	1	424	0.0024	4812	c.753 others(4821): Show c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG CCGTCCTCACCCGGGTCATCGCGGAGACGGAGGAGCGGCTCAGCAAGGTG TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCATC ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG CCGTTACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG AACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG CCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATG GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT GCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCG AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCA GGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACG GCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAG GAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCA AGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCAC ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT GCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT TCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG AGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGTTTCTTC GACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGC CGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCA CCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGG GACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCT GGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGC TGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAG CTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGG GGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGA CCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACC CTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCC GGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCC GAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGAC CTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAG CAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGC ACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGC ACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCT GGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGC CCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTG CTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGG CTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCG TGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCC GAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTC CCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCC GCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCAC AGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGA GGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCT TCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGC TGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCG GGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCG ACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCC GTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGA CCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCG CCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAG GCCGAGGCCGGGAGCCCGCGCCCAGA	p.Pro others(4827): Show p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs pLeuValAlaValLeuThrArgValIleAlaGluThrGluGluArgLeuS erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG lyPheIleIleAspProValArgAsnLeuArgLeuSerValGluGluAla ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl uAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaA laThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVal TrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLe uLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgA rgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPro GlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyAr gGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyG luThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGlu GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr gLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerG luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg AlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuAr gAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValP roValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGlu GluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuTh rArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaA rgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAla GlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGl uGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnG luGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGln GlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGl uAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyL euProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGlu ArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSe rGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuA laGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLys ArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLy sAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpL ysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAla AlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGl uGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuL euSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGln GlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHi sGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspP roValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyr PheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLy sGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuL euArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeu AlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAl aLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnS erValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArg ArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGl uLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaA rgAlaGluAlaGluAlaGlySerProArgPro	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7610/16005	7535/15267	2512/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865718	G G	GTCTGGGC others(1598): Show GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG CGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC CCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC CGGGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18952.hp2 NA18952.hp2	a0306 a0306	a0306c0058 a0306c0058	a0306c0058t0002 a0306c0058t0002	a0306c0058t0002g0234 a0306c0058t0002g0234	1	424	0.0024	1605	c.753 others(1614): Show c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG CCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTG TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG CCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG AACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG CCGGGAGCCCGCGCCCAGA	p.Pro others(1620): Show p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs pLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuS erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl uAlaGluAlaGlySerProArgPro	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7610/16005	7535/15267	2512/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865718	G G	GTCTGGGC others(3203): Show GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG GGGTCGGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG CGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC CCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC CGGGGTTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGC CTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGG TCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCG GACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTG GAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCA GCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGC ATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCAC GTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGT CGCTGGGGTCGGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGC CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG GGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCT GGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGC CCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCC GGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCG CGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGG GCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGC GCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGG CCTCCCGGGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19085.hp2 NA19085.hp2	a0158 a0158	a0158c0289 a0158c0289	a0158c0289t0002 a0158c0289t0002	a0158c0289t0002g0281 a0158c0289t0002g0281	1	424	0.0024	3210	c.753 others(3219): Show c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG CCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTG TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG CCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG AACCGCGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG CCGGGAGCCCGCGCCCAGAACCCCGGGAGGCCCTGCGTGCGGCCACCATG GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT GCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCG AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCA GGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACG GCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAG GAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCA AGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCAC ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT GCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT TCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG AGATGAACCGCGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTC GACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGC CGAGGCCGGGAGCCCGCGCCCAGA	p.Pro others(3225): Show p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs pLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuS erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl uAlaGluAlaGlySerProArgProGluProArgGluAlaLeuArgAlaA laThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVal TrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLe uLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgA rgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPro GlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyAr gGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyG luThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGlu GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr gLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerG luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg AlaGluAlaGluAlaGlySerProArgPro	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7610/16005	7535/15267	2512/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865946	G G	GCGCAGGG others(3188): Show GCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCC GGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAG CGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAA GAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCT CGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTG TGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCG GATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGG AGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCG GCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCAC GGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGC CGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGC ACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGG CTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCA GGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTG CCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTG CAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGC TGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGG TCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCG GCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCG GCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGG GTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTC CCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGG CTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGG GCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGT CAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCT CCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGC ACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACG CAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCC GGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGC TCTTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCG CCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGC TCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGG GCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGC CAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCA GCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCC TTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAA GTAGCCGCGCTGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGG GGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCG TGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTG CTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACA GCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCC TCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGC CGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCT TCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCC TTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCG CTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGG CCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCG GAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCG CTCCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCA GGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCC TCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCC CTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCT CCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCC TCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCC GGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCC GGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGG GTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTC CTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGG GCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCA CGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGC CCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCA GCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGG CGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGAC GCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03098.hp2 HG03098.hp2	a0060 a0060	a0060c0154 a0060c0154	a0060c0154t0001 a0060c0154t0001	a0060c0154t0001g0046 a0060c0154t0001g0046	1	424	0.0024	3195	c.730 others(3204): Show c.7307_7308insTGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCA GGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCG AGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACC GTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGC CCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGG AGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGG CGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGC CGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGC CCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCC CCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCC AGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGG GCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCC CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA GACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGG TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCA GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC CAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA CCGTGGAAGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGG GCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTT GCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGG CCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAG CCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGA GGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCC AGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTC CAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAG CGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGG GCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAG GAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGC CTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACC TGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTC AAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGC CAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGT GGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAG GCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGT GGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGC TGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGG CAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGA GCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCG ACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGC TACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACAC CAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGC TGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAG CTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTG TGCCCTGCG	p.Arg others(3210): Show p.Arg2436_Asp2437insAspAlaArgValThrProGlySerGlyAla LeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluVa lSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrL euThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAla GlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspPr oArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuA rgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSer ArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAs pLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluG luAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArg GluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnAr gGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaA laAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGln ArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSe rSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaA laGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIle GluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgAr gGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluT hrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGlu MetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyVa lLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleT yrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeu LeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLe uArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluI leGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAsp ProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLe uIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrG lyGlyValIleAspProValHisSerHisArgValProValAspValAla TyrGlnArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPr oSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuT hrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeu TyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGl uGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyA laLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGlu ValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyTh rLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnA laGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAsp ProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLe uArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValS erArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeu AspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGl uGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProA rgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGln ArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAr gArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyG lnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyr LeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAl aLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluT hrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnVal SerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuAr gAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspS erValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVal ProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAl aMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluA laGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeu SerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGl uLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrT hrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVal ArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyVa lIleAspProValHisSerHisArgValProValAspValAlaTyrArgA rgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAsp AspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrVa lGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetL euGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeu ArgCysAlaLeuArg	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7382/16005	7307/15267	2436/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865946	G G	GCGCAGGG others(1595): Show GCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCC GGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAG CGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAA GAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCT CGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTG TGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCG GATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGG AGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCG GCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCAC GGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGC CGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGC ACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGG CTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCA GGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTG CCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTG CAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGC TGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGG TCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCG GCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCG GCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGG GTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGT CTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCC CTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGC TGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAG CCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCA GCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCC CACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGT GGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGG CCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTG GCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAG GTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGA CGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCG TCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01192.hp1 HG03453.hp1 HG03579.hp1 HG01192.hp1 HG03453.hp1 HG03579.hp1	a0024 a0103 a0024 a0103	a0024c0029 a0103c0170 a0024c0029 a0103c0170	a0024c0029t0001 a0103c0170t0005 a0024c0029t0001 a0103c0170t0005	a0024c0029t0001g0007 a0103c0170t0005g0240 a0024c0029t0001g0007 a0103c0170t0005g0240	3	424	0.0071	1602	c.730 others(1611): Show c.7307_7308insTGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCA GGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCG AGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACC GTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGC CCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGG AGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGG CGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGC CGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGC CCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCC CCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCC AGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGG GCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCC CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGG TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC TGCGCTGTGCCCTGCG	p.Arg others(1617): Show p.Arg2436_Asp2437insAspAlaArgValThrProGlySerGlyAla LeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluVa lSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrL euThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAla GlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspPr oArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuA rgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSer ArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAs pLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluG luAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArg GluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnAr gGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaA laAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGln ArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSe rSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaA laGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIle GluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgAr gGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluT hrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGlu MetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyVa lLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleT yrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeu LeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLe uArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluI leGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAsp ProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLe uIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrG lyGlyValIleAspProValHisSerHisArgValProValAspValAla TyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPr oSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuT hrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeu TyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGl uGluLeuArgCysAlaLeuArg	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7382/16005	7307/15267	2436/5088		chr8	TogoVar

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