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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18953.hp2 NA18944.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0114 a0001c0001t0002g0172 a0001c0001t0001g0114 a0001c0001t0002g0172	2	388	0.0052	38	c.35 others(49): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01109.hp2 others(35): Show HG00738.hp1 HG01074.hp2 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02451.hp1 HG02486.hp1 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19085.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0002c0003t0018	a0001c0001t0002g0116 a0001c0001t0002g0253 a0001c0001t0004g0030 others(25): Show a0001c0001t0002g0116 a0001c0001t0002g0253 a0001c0001t0004g0030 a0001c0001t0004g0178 a0001c0001t0005g0031 a0001c0001t0005g0043 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0187 a0001c0001t0005g0275 a0001c0001t0006g0012 a0001c0001t0006g0159 a0001c0001t0006g0171 a0001c0001t0006g0177 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0183 a0001c0001t0009g0007 a0001c0001t0009g0053 a0001c0001t0011g0011 a0001c0001t0012g0017 a0001c0001t0012g0054 a0001c0001t0018g0055 a0001c0001t0019g0029 a0002c0003t0018g0056	38	364	0.1044	38	c.-30 others(47): Show c.-309_-308insACACACACACACACACACACACACACACACCCACAC CC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(31): Show AACACACACACACACACACACACACACCCCCCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	364	0.0028	38	c.-30 others(47): Show c.-309_-308insACACACACACACACACACACACACACCCCCCCACAC CC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(31): Show CACACACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	410	0.0024	38	c.356 others(55): Show c.356+2088_356+2089insATATATATATATATATATATATATATAT GTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0205 a0001c0001t0006g0205	1	358	0.0028	38	c.26- others(51): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0002 a0001c0004t0007g0002	1	264	0.0038	38	c.525 others(55): Show c.525+3415_525+3416insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18952.hp2 HG00741.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0028 a0001c0004t0003 a0001c0001t0028 a0001c0004t0003	a0001c0001t0028g0184 a0001c0004t0003g0117 a0001c0001t0028g0184 a0001c0004t0003g0117	2	264	0.0076	38	c.243 others(57): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0053 a0001c0018t0001g0053	1	264	0.0038	38	c.243 others(57): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENPP1_chr6_131803020_131900155	131811376	A A	ATATATCT others(31): Show ATATATCTATATCTATATCTATATCTATATATCTATATC	intron_variant intron_variant	MODIFIER	HG03130.hp1 homoSapiens_chm13v2.hp1 HG03130.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0005 a0002c0003t0011 a0002c0002t0005 a0002c0003t0011	a0002c0002t0005g0104 a0002c0003t0011g0119 a0002c0002t0005g0104 a0002c0003t0011g0119	2	292	0.0069	38	c.240 others(55): Show c.240+3130_240+3131insATCTATATCTATATCTATATCTATATCT ATATCTATAT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(31): Show CATATATATATATACACATATATACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0073 a0002c0001t0002g0073	1	430	0.0023	38	c.253 others(53): Show c.253+739_253+740insATACACATATATACACATATATATATATAT ATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(31): Show CATATATATATATATACATATATACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG01175.hp2 others(20): Show HG00558.hp1 HG00639.hp2 HG01175.hp2 HG01433.hp1 HG01516.hp2 HG02040.hp2 HG02129.hp2 HG02132.hp1 HG02602.hp2 HG02735.hp2 HG04199.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18957.hp2 NA18967.hp2 NA18973.hp1 NA18979.hp2 NA18995.hp1 NA19007.hp1 NA19064.hp2 NA19068.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0008 a0002c0001 others(1): Show a0001c0003 a0001c0008 a0002c0001 a0002c0021	a0001c0003t0001 a0001c0003t0004 a0001c0008t0001 others(3): Show a0001c0003t0001 a0001c0003t0004 a0001c0008t0001 a0002c0001t0001 a0002c0001t0002 a0002c0021t0001	a0001c0003t0001g0005 a0001c0003t0004g0005 a0001c0008t0001g0052 others(12): Show a0001c0003t0001g0005 a0001c0003t0004g0005 a0001c0008t0001g0052 a0002c0001t0001g0005 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0052 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0002g0005 a0002c0001t0002g0153 a0002c0021t0001g0005	23	430	0.0535	38	c.253 others(53): Show c.253+739_253+740insATATACATATATACACATATATATATATAT ATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(31): Show CATATATATATATATATACATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0190 a0003c0005t0001g0190	1	430	0.0023	38	c.253 others(53): Show c.253+739_253+740insATATATACATATATACACATATATATATAT ATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732132	G G	GTGTATAT others(31): Show GTGTATATATATATATACACACATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02615.hp2 others(8): Show HG02257.hp2 HG02258.hp2 HG02615.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA20300.hp1	a0001 a0015 a0001 a0015	a0001c0003 a0001c0006 a0001c0023 others(1): Show a0001c0003 a0001c0006 a0001c0023 a0015c0030	a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0023t0001 a0015c0030t0001	a0001c0003t0001g0068 a0001c0003t0001g0238 a0001c0003t0002g0237 others(7): Show a0001c0003t0001g0068 a0001c0003t0001g0238 a0001c0003t0002g0237 a0001c0006t0001g0241 a0001c0006t0001g0243 a0001c0006t0002g0240 a0001c0006t0002g0242 a0001c0006t0006g0239 a0001c0023t0001g0244 a0015c0030t0001g0245	11	430	0.0256	38	c.253 others(53): Show c.253+741_253+742insGTATATATATATATACACACATATATATAC ATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTPD8_chr9_137429364_137446357	137431551	C C	CGATGTGG others(31): Show CGATGTGGATAGTGGAACGGTGGGATGGGAGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	392	0.0026	38	c.33 others(49): Show c.3362_*3363insCCCTCCCCCTCCCATCCCACCGTTCCACTATCCA CATC	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding		2812		chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440245	G G	GTCCCCCA others(31): Show GTCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACAGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	392	0.0026	38	c.-21 others(55): Show c.-21+1040_-21+1041insGCTGTCCTGGTCTGGGGGGGCTGTCCTG GTCTGGGGGA	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69335834	A A	ATGCGCCT others(31): Show ATGCGCCTGTAGTCCTGACGTGCGCCTGTAGTCCTGACG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18951.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18972.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp2 NA19070.hp2 NA19076.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0009 a0001c0001 a0001c0003 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0005c0009t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(113): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0220 a0001c0001t0002g0285 a0001c0001t0002g0308 a0001c0001t0003g0276 a0001c0001t0006g0126 a0001c0001t0007g0181 a0001c0003t0001g0317 a0001c0003t0001g0318 a0005c0009t0001g0110	123	342	0.3597	38	c.415 others(53): Show c.415-345_415-344insGACGTGCGCCTGTAGTCCTGACGTGCGCCT GTAGTCCT	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69335857	G G	GCCTGTAG others(31): Show GCCTGTAGTCCTGACGTGCGCCTGTAGTCCTGACGTGCA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19085.hp1 NA18971.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0134 a0001c0001t0002g0135	2	342	0.0059	38	c.415 others(53): Show c.415-345_415-344insGACGTGCGCCTGTAGTCCTGACGTGCACCT GTAGTCCT	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29344931	G G	GACACACA others(31): Show GACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0046 a0003c0006t0046	a0003c0006t0046g0037 a0003c0006t0046g0037	1	125	0.0080	38	c.276 others(57): Show c.276+36806_276+36843dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
EP400_chr12_131944942_132085460	132080746	C C	CACTGGCA others(31): Show CACTGGCACCAGTGTCCTTCCACACCCAGTCTGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02735.hp1 NA18995.hp1 others(2): Show HG02056.hp2 HG02735.hp1 NA18995.hp1 NA19064.hp1 NA19070.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0006 a0001c0018 a0002c0001 others(1): Show a0001c0006 a0001c0018 a0002c0001 a0015c0027	a0001c0006t0005 a0001c0018t0005 a0002c0001t0005 others(1): Show a0001c0006t0005 a0001c0018t0005 a0002c0001t0005 a0015c0027t0005	a0001c0006t0005g0199 a0001c0006t0005g0200 a0001c0018t0005g0203 others(2): Show a0001c0006t0005g0199 a0001c0006t0005g0200 a0001c0018t0005g0203 a0002c0001t0005g0015 a0015c0027t0005g0205	5	208	0.0240	38	c.30 others(49): Show c.3073_*3074insACTGGCACCAGTGTCCTTCCACACCCAGTCTGTG CCCA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding		287		chr12	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	356	0.0028	38	c.705 others(55): Show c.705+1064_705+1065insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTATAT others(31): Show GTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	222	0.0045	38	c.-11 others(57): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA TATATATATACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTAT others(31): Show GTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03704.hp2 HG02886.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0041 a0001c0002t0002g0033 a0001c0002t0001g0041 a0001c0002t0002g0033	2	222	0.0090	38	c.-11 others(57): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA TATATATACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0001 a0015c0013t0001	a0015c0013t0001g0125 a0015c0013t0001g0125	1	222	0.0045	38	c.-11 others(57): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA TATACACACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	228	0.0044	38	c.100 others(55): Show c.100-7016_100-7015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112415990	G G	GAAAATTA others(31): Show GAAAATTATTTTCCATTTAAATGGAAATTAAATGGAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0019 a0002c0003t0019	a0002c0003t0019g0073 a0002c0003t0019g0073	1	228	0.0044	38	c.99+ others(53): Show c.99+2913_99+2950dupATTTCCATTTAATTTCCATTTAAATGGAAA ATAATTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109226742	T T	TATATGAA others(31): Show TATATGAAGAATATATATATATGAATATATATATGAAGA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0029 a0003c0007t0001g0029	1	318	0.0031	38	c.141 others(57): Show c.1410-9598_1410-9597insTCTTCATATATATATTCATATATATA TATTCTTCATAT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	15/25			chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120098156	T T	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	278	0.0036	38	c.117 others(57): Show c.1179-2055_1179-2054insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28935438	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02895.hp2 HG03579.hp2 others(2): Show HG02155.hp1 HG02895.hp2 HG03579.hp2 NA19085.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0004c0009t0002	a0001c0001t0001g0053 a0001c0001t0002g0172 a0001c0001t0002g0235 others(2): Show a0001c0001t0001g0053 a0001c0001t0002g0172 a0001c0001t0002g0235 a0001c0001t0026g0234 a0004c0009t0002g0125	5	312	0.0160	38	c.-8+ others(55): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACAC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18998.hp2 HG02257.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0126 a0001c0001t0005g0122 a0001c0001t0001g0126 a0001c0001t0005g0122	2	312	0.0064	38	c.-8+ others(55): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACACACACACCCCCC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19070.hp1 NA19062.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0008 a0001c0001t0001g0016	2	312	0.0064	38	c.-8+ others(55): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACCCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0130 a0001c0001t0006g0130	1	448	0.0022	38	c.270 others(57): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02165.hp2 HG01175.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0023 a0001c0010t0061 a0001c0001t0023 a0001c0010t0061	a0001c0001t0023g0182 a0001c0010t0061g0234 a0001c0001t0023g0182 a0001c0010t0061g0234	2	234	0.0086	38	c.910 others(57): Show c.910+25586_910+25587insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTCTTTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	97085928	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0070 a0001c0002t0006g0070	1	82	0.0122	38	c.111 others(59): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TATATATATATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97700883	C C	CAGGTGGT others(31): Show CAGGTGGTATGTTTTAAGACATTGTCTAATAGTACTGTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	82	0.0122	38	c.278 others(59): Show c.2785-19376_2785-19375insGTGGTATGTTTTAAGACATTGTCT AATAGTACTGTTAG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPPK1_chr8_143852324_143883467	143855412	C C	CTATATAT others(31): Show CTATATATCTATATCTATATATCTATATCTATATATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(137): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0007 a0008 a0009 others(109): Show a0007 a0008 a0009 a0014 a0021 a0022 a0023 a0026 a0030 a0033 a0034 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0049 a0051 a0053 a0065 a0066 a0067 a0074 a0082 a0089 a0090 a0091 a0093 a0095 a0096 a0105 a0130 a0153 a0155 a0156 a0157 a0158 a0159 a0162 a0163 a0164 a0165 a0202 a0206 a0207 a0208 a0210 a0211 a0215 a0216 a0217 a0218 a0219 a0222 a0230 a0232 a0233 a0235 a0236 a0238 a0239 a0240 a0244 a0245 a0246 a0253 a0254 a0255 a0256 a0257 a0258 a0259 a0260 a0261 a0262 a0263 a0264 a0265 a0266 a0268 a0269 a0272 a0273 a0275 a0276 a0277 a0278 a0279 a0281 a0282 a0283 a0284 a0285 a0286 a0287 a0288 a0289 a0291 a0293 a0294 a0295 a0296 a0302 a0303 a0305 a0306	a0007c0013 a0007c0273 a0008c0017 others(120): Show a0007c0013 a0007c0273 a0008c0017 a0008c0021 a0009c0174 a0009c0178 a0009c0187 a0014c0044 a0014c0280 a0021c0006 a0022c0024 a0023c0096 a0023c0102 a0026c0185 a0026c0186 a0030c0257 a0030c0258 a0033c0268 a0034c0260 a0034c0261 a0037c0075 a0037c0143 a0038c0019 a0039c0023 a0040c0018 a0041c0022 a0042c0088 a0043c0085 a0043c0089 a0044c0020 a0045c0027 a0046c0026 a0047c0025 a0049c0028 a0051c0345 a0053c0144 a0065c0149 a0066c0148 a0067c0147 a0074c0335 a0082c0193 a0089c0183 a0090c0184 a0091c0180 a0093c0176 a0095c0196 a0096c0197 a0105c0338 a0130c0283 a0153c0279 a0155c0292 a0156c0290 a0157c0278 a0158c0289 a0159c0288 a0162c0284 a0163c0313 a0164c0276 a0165c0207 a0202c0218 a0206c0221 a0207c0219 a0208c0220 a0210c0263 a0211c0262 a0215c0269 a0216c0264 a0217c0267 a0218c0266 a0219c0265 a0222c0205 a0230c0337 a0232c0057 a0233c0142 a0235c0068 a0236c0067 a0238c0077 a0239c0076 a0240c0078 a0244c0111 a0245c0110 a0246c0113 a0253c0080 a0254c0081 a0255c0141 a0256c0082 a0257c0083 a0258c0106 a0259c0097 a0260c0103 a0261c0105 a0262c0104 a0263c0100 a0264c0099 a0265c0101 a0266c0098 a0268c0122 a0269c0123 a0272c0091 a0273c0090 a0275c0120 a0276c0133 a0277c0121 a0278c0074 a0279c0087 a0281c0132 a0282c0140 a0283c0130 a0284c0131 a0285c0124 a0286c0061 a0287c0129 a0288c0086 a0289c0126 a0291c0127 a0293c0136 a0294c0119 a0295c0117 a0296c0118 a0302c0066 a0303c0062 a0305c0063 a0306c0058	a0007c0013t0002 a0007c0013t0006 a0007c0013t0012 others(126): Show a0007c0013t0002 a0007c0013t0006 a0007c0013t0012 a0007c0273t0002 a0008c0017t0002 a0008c0021t0002 a0009c0174t0014 a0009c0178t0014 a0009c0187t0014 a0014c0044t0002 a0014c0280t0006 a0021c0006t0002 a0021c0006t0007 a0022c0024t0002 a0023c0096t0002 a0023c0102t0002 a0026c0185t0002 a0026c0186t0002 a0030c0257t0002 a0030c0258t0002 a0033c0268t0006 a0034c0260t0002 a0034c0261t0006 a0037c0075t0002 a0037c0143t0002 a0038c0019t0002 a0038c0019t0012 a0039c0023t0002 a0039c0023t0007 a0040c0018t0002 a0041c0022t0002 a0042c0088t0002 a0043c0085t0026 a0043c0089t0002 a0044c0020t0002 a0045c0027t0002 a0045c0027t0006 a0046c0026t0002 a0047c0025t0002 a0049c0028t0002 a0051c0345t0002 a0053c0144t0002 a0065c0149t0002 a0066c0148t0007 a0067c0147t0002 a0074c0335t0002 a0082c0193t0003 a0089c0183t0002 a0090c0184t0007 a0091c0180t0002 a0093c0176t0007 a0095c0196t0002 a0096c0197t0002 a0105c0338t0007 a0130c0283t0006 a0153c0279t0002 a0155c0292t0002 a0156c0290t0002 a0157c0278t0002 a0158c0289t0002 a0159c0288t0023 a0162c0284t0002 a0163c0313t0002 a0164c0276t0006 a0165c0207t0002 a0202c0218t0002 a0206c0221t0002 a0207c0219t0006 a0208c0220t0002 a0210c0263t0002 a0211c0262t0002 a0215c0269t0002 a0216c0264t0002 a0217c0267t0002 a0218c0266t0002 a0219c0265t0002 a0222c0205t0002 a0230c0337t0002 a0232c0057t0002 a0233c0142t0002 a0235c0068t0002 a0236c0067t0002 a0238c0077t0002 a0239c0076t0002 a0240c0078t0002 a0244c0111t0002 a0245c0110t0002 a0246c0113t0002 a0253c0080t0007 a0254c0081t0002 a0255c0141t0002 a0256c0082t0002 a0257c0083t0002 a0258c0106t0002 a0259c0097t0002 a0260c0103t0002 a0261c0105t0002 a0262c0104t0002 a0263c0100t0002 a0264c0099t0007 a0265c0101t0025 a0266c0098t0002 a0268c0122t0002 a0269c0123t0002 a0272c0091t0002 a0273c0090t0007 a0275c0120t0002 a0276c0133t0007 a0277c0121t0002 a0278c0074t0002 a0279c0087t0002 a0281c0132t0002 a0282c0140t0002 a0283c0130t0002 a0284c0131t0002 a0285c0124t0007 a0286c0061t0002 a0287c0129t0002 a0288c0086t0002 a0289c0126t0002 a0291c0127t0002 a0293c0136t0002 a0294c0119t0002 a0295c0117t0002 a0296c0118t0002 a0302c0066t0002 a0303c0062t0006 a0305c0063t0006 a0306c0058t0002	a0007c0013t0002g0134 a0007c0013t0006g0133 a0007c0013t0012g0132 others(128): Show a0007c0013t0002g0134 a0007c0013t0006g0133 a0007c0013t0012g0132 a0007c0273t0002g0131 a0008c0017t0002g0014 a0008c0021t0002g0015 a0009c0174t0014g0357 a0009c0178t0014g0350 a0009c0187t0014g0229 a0014c0044t0002g0018 a0014c0280t0006g0379 a0021c0006t0002g0028 a0021c0006t0007g0037 a0022c0024t0002g0153 a0022c0024t0002g0169 a0023c0096t0002g0318 a0023c0102t0002g0342 a0026c0185t0002g0354 a0026c0186t0002g0355 a0030c0257t0002g0243 a0030c0258t0002g0244 a0033c0268t0006g0077 a0034c0260t0002g0128 a0034c0261t0006g0183 a0037c0075t0002g0316 a0037c0143t0002g0384 a0038c0019t0002g0245 a0038c0019t0012g0163 a0039c0023t0002g0278 a0039c0023t0007g0346 a0040c0018t0002g0026 a0041c0022t0002g0023 a0042c0088t0002g0371 a0043c0085t0026g0165 a0043c0089t0002g0042 a0044c0020t0002g0020 a0045c0027t0002g0363 a0045c0027t0006g0362 a0046c0026t0002g0302 a0046c0026t0002g0347 a0047c0025t0002g0024 a0049c0028t0002g0016 a0051c0345t0002g0280 a0053c0144t0002g0349 a0065c0149t0002g0219 a0066c0148t0007g0218 a0067c0147t0002g0217 a0074c0335t0002g0307 a0082c0193t0003g0376 a0089c0183t0002g0352 a0090c0184t0007g0353 a0091c0180t0002g0374 a0093c0176t0007g0106 a0095c0196t0002g0356 a0096c0197t0002g0101 a0105c0338t0007g0287 a0130c0283t0006g0220 a0153c0279t0002g0375 a0155c0292t0002g0186 a0156c0290t0002g0185 a0157c0278t0002g0067 a0158c0289t0002g0281 a0159c0288t0023g0136 a0162c0284t0002g0096 a0163c0313t0002g0190 a0164c0276t0006g0263 a0165c0207t0002g0336 a0202c0218t0002g0091 a0206c0221t0002g0265 a0207c0219t0006g0345 a0208c0220t0002g0312 a0210c0263t0002g0110 a0211c0262t0002g0329 a0215c0269t0002g0111 a0216c0264t0002g0184 a0217c0267t0002g0130 a0218c0266t0002g0330 a0219c0265t0002g0129 a0222c0205t0002g0114 a0230c0337t0002g0361 a0232c0057t0002g0154 a0233c0142t0002g0030 a0235c0068t0002g0156 a0236c0067t0002g0155 a0238c0077t0002g0293 a0239c0076t0002g0292 a0240c0078t0002g0038 a0244c0111t0002g0173 a0245c0110t0002g0172 a0246c0113t0002g0083 a0253c0080t0007g0161 a0254c0081t0002g0162 a0255c0141t0002g0232 a0256c0082t0002g0164 a0257c0083t0002g0053 a0258c0106t0002g0170 a0259c0097t0002g0334 a0260c0103t0002g0282 a0261c0105t0002g0286 a0262c0104t0002g0285 a0263c0100t0002g0284 a0264c0099t0007g0168 a0265c0101t0025g0288 a0266c0098t0002g0090 a0268c0122t0002g0299 a0269c0123t0002g0337 a0272c0091t0002g0167 a0273c0090t0007g0372 a0275c0120t0002g0174 a0276c0133t0007g0322 a0277c0121t0002g0175 a0278c0074t0002g0195 a0279c0087t0002g0166 a0281c0132t0002g0303 a0282c0140t0002g0305 a0283c0130t0002g0310 a0284c0131t0002g0311 a0285c0124t0007g0309 a0286c0061t0002g0315 a0287c0129t0002g0290 a0288c0086t0002g0381 a0289c0126t0002g0300 a0291c0127t0002g0242 a0293c0136t0002g0344 a0294c0119t0002g0321 a0295c0117t0002g0323 a0296c0118t0002g0320 a0302c0066t0002g0383 a0303c0062t0006g0081 a0305c0063t0006g0082 a0306c0058t0002g0234	140	424	0.3302	38	c.25 others(49): Show c.2574_*2575insTAGATATATAGATATAGATATATAGATATAGATA TATA	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding		1911		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143855430	A A	ATATCTAT others(31): Show ATATCTATATCTATATATCTATATATATCTATATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0022 a0022	a0022c0094 a0022c0094	a0022c0094t0006 a0022c0094t0006	a0022c0094t0006g0152 a0022c0094t0006g0152	1	424	0.0024	38	c.25 others(49): Show c.2556_*2557insGATAGATATAGATATATATAGATATATAGATATA GATA	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding		1893		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(31): Show CCCGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02572.hp1 others(4): Show HG02559.hp1 HG02559.hp2 HG02572.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG03579.hp2	a0015 a0106 a0107 others(4): Show a0015 a0106 a0107 a0108 a0109 a0115 a0124	a0015c0316 a0106c0164 a0107c0166 others(4): Show a0015c0316 a0106c0164 a0107c0166 a0108c0165 a0109c0163 a0115c0172 a0124c0327	a0015c0316t0003 a0106c0164t0009 a0107c0166t0009 others(4): Show a0015c0316t0003 a0106c0164t0009 a0107c0166t0009 a0108c0165t0009 a0109c0163t0009 a0115c0172t0001 a0124c0327t0005	a0015c0316t0003g0227 a0106c0164t0009g0224 a0107c0166t0009g0226 others(4): Show a0015c0316t0003g0227 a0106c0164t0009g0224 a0107c0166t0009g0226 a0108c0165t0009g0225 a0109c0163t0009g0223 a0115c0172t0001g0221 a0124c0327t0005g0222	7	424	0.0165	38	c.-46 others(51): Show c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGG GTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01496.hp2 others(27): Show HG00438.hp1 HG00558.hp2 HG01496.hp2 HG01952.hp2 HG01993.hp2 HG02071.hp2 HG02132.hp2 HG02145.hp2 HG02293.hp1 HG02622.hp2 HG02698.hp2 HG02895.hp1 HG02897.hp1 HG03225.hp2 HG04184.hp2 NA18747.hp2 NA18940.hp2 NA18945.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18974.hp1 NA18977.hp2 NA19060.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0002c0003t0002 a0001c0001t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0002g0076 a0001c0001t0002g0126 a0001c0001t0002g0234 others(27): Show a0001c0001t0002g0076 a0001c0001t0002g0126 a0001c0001t0002g0234 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0308 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0003g0320 a0002c0003t0002g0205	30	358	0.0838	38	c.432 others(55): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	358	0.0028	38	c.432 others(55): Show c.4323+273_4323+274insGTGTATATATATATATATATATATATAT ATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TTTATATA others(31): Show TTTATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	358	0.0028	38	c.432 others(55): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATATATAA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	219971801	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	358	0.0028	38	c.432 others(55): Show c.4323+267_4323+268insGTGTGTGTGTATATATATATATATATAT ATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPS8L2_chr11_701231_732727	722969	C C	CCCAGAGC others(31): Show CCCAGAGCTCCCCTCCCCGGCCCCGACACCCACCCCTCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	406	0.0025	38	c.134 others(55): Show c.1341+201_1341+202insACCAGAGCTCCCCTCCCCGGCCCCGACA CCCACCCCTC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERBB4_chr2_211370717_212543802	211675792	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	56	0.0179	38	c.162 others(57): Show c.1623-2536_1623-2535insTATATATATATATATATATATATATA TATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211709254	C C	CATATATA others(31): Show CATATATATATATATATATATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0023	1	56	0.0179	38	c.112 others(57): Show c.1124+2795_1124+2796insATATATATATGTGTATATATATATAT ATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	9/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018473	T T	TTATATTA others(31): Show TTATATTATATAATATATAATATATATTATAATATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0071 a0001c0001t0014g0071	1	306	0.0033	38	c.534 others(55): Show c.534-2844_534-2843insTATATAATATATAATATATATTATAATA TATAATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018473	T T	TTATATTA others(31): Show TTATATTATATAATATATATTATATATTATAATATATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00673.hp1 others(24): Show HG00099.hp2 HG00609.hp1 HG00673.hp1 HG01261.hp1 HG01978.hp2 HG02004.hp1 HG02080.hp2 NA18943.hp2 NA18946.hp1 NA18962.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp2 NA18978.hp2 NA18981.hp2 NA19000.hp1 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp2 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0051 others(24): Show a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0014g0070	27	306	0.0882	38	c.534 others(55): Show c.534-2844_534-2843insTATATAATATATATTATATATTATAATA TATAATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1121677	A A	ATCTCTAT others(31): Show ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02602.hp1 HG04199.hp1 others(1): Show HG02257.hp1 HG02602.hp1 HG04199.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0001t0103 a0001c0003t0046 others(1): Show a0001c0001t0011 a0001c0001t0103 a0001c0003t0046 a0001c0003t0092	a0001c0001t0011g0020 a0001c0001t0103g0132 a0001c0003t0046g0088 others(1): Show a0001c0001t0011g0020 a0001c0001t0103g0132 a0001c0003t0046g0088 a0001c0003t0092g0004	4	162	0.0247	38	c.156 others(57): Show c.1569+5647_1569+5648insCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121677	A A	ATCTCTAT others(31): Show ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00738.hp2 others(5): Show HG00323.hp1 HG00544.hp2 HG00738.hp2 HG01257.hp2 HG01358.hp1 HG01496.hp2 HG01952.hp1 HG01981.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0001c0001t0014 a0001c0001t0094 others(5): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0094 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0118 a0002c0002t0084	a0001c0001t0012g0018 a0001c0001t0014g0027 a0001c0001t0094g0016 others(5): Show a0001c0001t0012g0018 a0001c0001t0014g0027 a0001c0001t0094g0016 a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051 a0001c0001t0118g0026 a0002c0002t0084g0025	8	162	0.0494	38	c.156 others(57): Show c.1569+5647_1569+5648insCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121741	A A	ATCTCTAT others(31): Show ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0143 a0002c0002t0035g0143	1	162	0.0062	38	c.156 others(57): Show c.1569+5711_1569+5712insCTATCTCTATCTGTGTCTCTATCTCT ATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121779	A A	ATCTGTGT others(31): Show ATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG06807.hp1 HG03579.hp1 HG06807.hp1	a0007 a0008 a0007 a0008	a0007c0012 a0008c0011 a0007c0012 a0008c0011	a0007c0012t0073 a0008c0011t0044 a0007c0012t0073 a0008c0011t0044	a0007c0012t0073g0067 a0008c0011t0044g0068 a0007c0012t0073g0067 a0008c0011t0044g0068	2	162	0.0124	38	c.156 others(57): Show c.1569+5749_1569+5750insGTGTCTCTATCTCTATCTCTATCTCT ATCTGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar

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