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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ENTREP2_chr15_29115252_29575979	29444154	CAGAAAGA others(21): Show CAGAAAGAAAGACAGACAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19043.hp2 HG03486.hp1 NA19043.hp2	a0003 a0005 a0003 a0005	a0003c0006 a0005c0016 a0003c0006 a0005c0016	a0003c0006t0002 a0005c0016t0006 a0003c0006t0002 a0005c0016t0006	a0003c0006t0002g0065 a0005c0016t0006g0032 a0003c0006t0002g0065 a0005c0016t0006g0032	2	125	0.0160	-28	c.220 others(47): Show c.220-62351_220-62324delCTTTCTTTCTTTGTCTGTCTTTCTTT CT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10						chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29444170	CAAAGAAA others(21): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03098.hp1 HG03453.hp2 HG02155.hp2 HG03098.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0002c0015 a0001c0001 a0002c0012 a0002c0015	a0001c0001t0004 a0002c0012t0009 a0002c0015t0044 a0001c0001t0004 a0002c0012t0009 a0002c0015t0044	a0001c0001t0004g0022 a0002c0012t0009g0091 a0002c0015t0044g0083 a0001c0001t0004g0022 a0002c0012t0009g0091 a0002c0015t0044g0083	3	125	0.0240	-28	c.220 others(47): Show c.220-62367_220-62340delCTTTCTTTCTTTCTTTCTTTCTTTCT TT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10						chr15	TogoVar
EP300_chr22_41087592_41185077	41167572	GTGTGTGT others(21): Show GTGTGTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0045 a0001c0006t0007g0045	1	300	0.0033	-28	c.387 others(45): Show c.3875-875_3875-848delGTGTGTGTGTGTATATATATATATATAT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167582	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19065.hp1 NA18980.hp1 NA19065.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0031 a0001c0011t0031	a0001c0011t0031g0190 a0001c0011t0031g0191 a0001c0011t0031g0190 a0001c0011t0031g0191	2	300	0.0067	-28	c.387 others(45): Show c.3875-865_3875-838delGTATATATATATATATATATATATATAT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EPB41L4A_chr5_112157619_112424277	112408691	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp2 HG03516.hp2 HG02055.hp1 HG02922.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0018 a0002c0007t0002 a0002c0007t0030 a0001c0001t0018 a0002c0007t0002 a0002c0007t0030	a0001c0001t0018g0051 a0002c0007t0002g0052 a0002c0007t0030g0053 a0001c0001t0018g0051 a0002c0007t0002g0052 a0002c0007t0030g0053	3	228	0.0132	-28	c.99+ others(45): Show c.99+10222_99+10249delCTTTTTTTTTTTTTTTTTTTTTTTTTTT		EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22						chr5	TogoVar
EPC2_chr2_148639751_148792569	148710062	CCTACAGA others(21): Show CCTACAGAATGGGAGAAAATTTTTGCAAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	308	0.0033	-28	c.313 others(47): Show c.313+19694_313+19721delAGAATGGGAGAAAATTTTTGCAATCT AC		EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365510	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	450	0.0022	-28	c.-39 others(39): Show c.-3995_-3968delTATATATATATATATATATATATATTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3800		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365512	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	450	0.0022	-28	c.-39 others(39): Show c.-3993_-3966delTATATATATATATATATATATATTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3798		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365514	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02647.hp1 others(3): Show HG01884.hp1 HG02145.hp2 HG02647.hp1 HG02895.hp1 HG02970.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0211 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0211 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323	6	450	0.0133	-28	c.-39 others(39): Show c.-3991_-3964delTATATATATATATATATATATTTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3796		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365516	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	450	0.0022	-28	c.-39 others(39): Show c.-3989_-3962delTATATATATATATATATATTTTTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3794		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47383607	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	450	0.0022	-28	c.859 others(45): Show c.859-1541_859-1514delTTTTTTTTTTTTTTTTTTTTTTTTTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPHA5_chr4_65314567_65675489	65465526	AGAAAAGA others(21): Show AGAAAAGAAAGGAAAGGAAGGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0216 a0001c0002t0002g0216	1	234	0.0043	-28	c.140 others(49): Show c.1402+24823_1402+24850delCTTCCTTTCCTTCCTTTCCTTTCT TTTC		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	5/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576046	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 NA20905.hp2 HG00140.hp2 HG00639.hp1 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0136	3	234	0.0128	-28	c.910 others(47): Show c.910+25567_910+25594delTCTTTTCTTTTCTTTTCTTTCTTTCT TT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar
EPHA6_chr3_96809594_97766532	97327971	GTATATGT others(21): Show GTATATGTGCATATATATGTATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	82	0.0122	-28	c.160 others(49): Show c.1607-77177_1607-77150delATATGTGCATATATATGTATATGT GTAT		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97363171	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG01175.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0020 a0001c0001t0002 a0001c0002t0020	a0001c0001t0002g0059 a0001c0002t0020g0042 a0001c0001t0002g0059 a0001c0002t0020g0042	2	82	0.0244	-28	c.160 others(49): Show c.1607-41939_1607-41912delTATATATATATATATATATATATA TATA		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA7_chr6_93235020_93424559	93405801	GTGTGTGT others(21): Show GTGTGTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	280	0.0036	-28	c.832 others(45): Show c.832+4672_832+4699delTATATATATATATATACACACACACACA		EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	3/16						chr6	TogoVar
EPHA7_chr6_93235020_93424559	93405809	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	280	0.0036	-28	c.832 others(45): Show c.832+4664_832+4691delTATATATATATATATATATATATACACA		EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	3/16						chr6	TogoVar
EPHB1_chr3_134790260_135265467	134959966	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp2 HG01884.hp2 others(9): Show HG01175.hp1 HG01433.hp2 HG01884.hp2 HG02486.hp2 HG02630.hp2 HG03225.hp1 HG03453.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0014 a0001c0001 a0001c0003 a0002c0014	a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0002c0014t0002	a0001c0001t0002g0002 a0001c0001t0002g0038 a0001c0001t0002g0052 others(9): Show a0001c0001t0002g0002 a0001c0001t0002g0038 a0001c0001t0002g0052 a0001c0001t0006g0047 a0001c0003t0001g0034 a0001c0003t0001g0039 a0001c0003t0001g0062 a0001c0003t0002g0061 a0001c0003t0002g0092 a0001c0003t0003g0003 a0001c0003t0004g0119 a0002c0014t0002g0031	12	134	0.0896	-28	c.805 others(45): Show c.805+7929_805+7956delTTTTTTTTTTTTTTTTTTTTTTTTTTTT		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183026	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00733.hp1 others(15): Show HG00323.hp1 HG00323.hp2 HG00733.hp1 HG01175.hp1 HG01433.hp1 HG01884.hp1 HG01978.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG03041.hp2 HG03195.hp1 HG03471.hp1 HG03834.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0021 a0001c0004t0001 a0001c0004t0002 a0001c0007t0003 a0001c0007t0009 a0002c0014t0002	a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0082 others(15): Show a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0126 a0001c0001t0002g0005 a0001c0001t0002g0046 a0001c0001t0003g0053 a0001c0001t0006g0047 a0001c0001t0009g0042 a0001c0001t0015g0109 a0001c0001t0021g0058 a0001c0004t0001g0128 a0001c0004t0002g0004 a0001c0004t0002g0015 a0001c0004t0002g0033 a0001c0007t0003g0068 a0001c0007t0009g0028 a0002c0014t0002g0031	18	134	0.1343	-28	c.188 others(47): Show c.1882+3070_1882+3097delTTCTTTCTTTCTTTCTTTCTTTCTTT CT		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB2_chr1_22705839_22926500	22717240	GGGCAGCA others(21): Show GGGCAGCAGGCCAGGCAGTTGTTGATTGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02257.hp1 others(12): Show HG01109.hp1 HG02145.hp2 HG02257.hp1 HG02451.hp1 HG02559.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 NA18906.hp1 NA19240.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0015 others(1): Show a0001c0001 a0001c0003 a0001c0015 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0052 a0001c0003t0040 a0001c0015t0001 a0003c0011t0002	a0001c0001t0001g0048 a0001c0001t0002g0051 a0001c0001t0002g0058 others(12): Show a0001c0001t0001g0048 a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0082 a0001c0001t0003g0081 a0001c0001t0005g0052 a0001c0001t0005g0057 a0001c0001t0005g0063 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0052g0062 a0001c0003t0040g0050 a0001c0015t0001g0080 a0003c0011t0002g0049	15	248	0.0605	-28	c.61+ others(43): Show c.61+6205_61+6232delGGCCAGGCAGTTGTTGATTGTGGCAGCA		EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22803617	ATATATAT others(21): Show ATATATATATATATGTGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(205): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0003c0011 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0002t0035 a0001c0002t0042 a0001c0003t0041 a0001c0005t0001 a0001c0006t0022 a0001c0007t0036 a0001c0008t0001 a0001c0009t0012 a0001c0010t0048 a0001c0012t0028 a0001c0013t0024 a0001c0015t0001 a0001c0017t0002 a0003c0011t0002 a0004c0014t0009	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0016 others(205): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0082 a0001c0001t0002g0090 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0136 a0001c0001t0002g0152 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0192 a0001c0001t0002g0201 a0001c0001t0002g0211 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0245 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0028 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0161 a0001c0001t0003g0174 a0001c0001t0003g0188 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0225 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0019 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0030 a0001c0001t0004g0064 a0001c0001t0004g0071 a0001c0001t0004g0109 a0001c0001t0004g0162 a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0004g0179 a0001c0001t0004g0190 a0001c0001t0004g0210 a0001c0001t0005g0035 a0001c0001t0005g0052 a0001c0001t0005g0063 a0001c0001t0005g0077 a0001c0001t0005g0104 a0001c0001t0005g0113 a0001c0001t0005g0143 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0006g0076 a0001c0001t0007g0079 a0001c0001t0007g0247 a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0008g0157 a0001c0001t0010g0020 a0001c0001t0010g0121 a0001c0001t0010g0186 a0001c0001t0010g0205 a0001c0001t0010g0209 a0001c0001t0012g0212 a0001c0001t0015g0084 a0001c0001t0015g0112 a0001c0001t0015g0220 a0001c0001t0016g0012 a0001c0001t0016g0069 a0001c0001t0016g0132 a0001c0001t0018g0153 a0001c0001t0019g0184 a0001c0001t0019g0221 a0001c0001t0021g0047 a0001c0001t0021g0072 a0001c0001t0023g0155 a0001c0001t0025g0239 a0001c0001t0026g0193 a0001c0001t0027g0229 a0001c0001t0030g0111 a0001c0001t0032g0218 a0001c0001t0033g0177 a0001c0001t0034g0206 a0001c0001t0037g0078 a0001c0001t0038g0236 a0001c0001t0039g0117 a0001c0001t0043g0115 a0001c0001t0044g0141 a0001c0001t0045g0187 a0001c0001t0046g0148 a0001c0001t0047g0189 a0001c0001t0049g0228 a0001c0001t0050g0227 a0001c0001t0052g0062 a0001c0001t0053g0230 a0001c0001t0054g0053 a0001c0001t0055g0108 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0073 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0125 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0156 a0001c0002t0001g0159 a0001c0002t0001g0167 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0202 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0223 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0002g0074 a0001c0002t0002g0164 a0001c0002t0002g0197 a0001c0002t0003g0191 a0001c0002t0005g0036 a0001c0002t0007g0146 a0001c0002t0009g0150 a0001c0002t0009g0214 a0001c0002t0009g0233 a0001c0002t0010g0171 a0001c0002t0011g0038 a0001c0002t0011g0095 a0001c0002t0011g0124 a0001c0002t0011g0138 a0001c0002t0013g0034 a0001c0002t0013g0100 a0001c0002t0013g0147 a0001c0002t0017g0096 a0001c0002t0018g0154 a0001c0002t0020g0043 a0001c0002t0020g0160 a0001c0002t0035g0056 a0001c0002t0042g0140 a0001c0003t0041g0215 a0001c0005t0001g0091 a0001c0006t0022g0126 a0001c0007t0036g0137 a0001c0008t0001g0116 a0001c0009t0012g0122 a0001c0010t0048g0207 a0001c0012t0028g0013 a0001c0013t0024g0092 a0001c0015t0001g0080 a0001c0017t0002g0204 a0003c0011t0002g0049 a0004c0014t0009g0120	208	248	0.8387	-28	c.811 others(47): Show c.811+18571_811+18598delATATATATATATGTGTATATATATGT GT		EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX2_chr8_27486143_27550564	27490699	GACACACA others(21): Show GACACACACACACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	374	0.0027	-28	c.-50 others(37): Show c.-509_-482delACACACACACACACACACACACACACAC		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding					443		chr8	TogoVar
EPHX2_chr8_27486143_27550564	27490727	CACACACA others(21): Show CACACACACACACACACACACACACACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG02257.hp2 HG02280.hp2 others(6): Show HG00733.hp1 HG02257.hp2 HG02280.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp1	a0003 a0003	a0003c0006 a0003c0007 a0003c0006 a0003c0007	a0003c0006t0002 a0003c0007t0004 a0003c0006t0002 a0003c0007t0004	a0003c0006t0002g0310 a0003c0006t0002g0311 a0003c0006t0002g0357 others(6): Show a0003c0006t0002g0310 a0003c0006t0002g0311 a0003c0006t0002g0357 a0003c0007t0004g0312 a0003c0007t0004g0313 a0003c0007t0004g0314 a0003c0007t0004g0315 a0003c0007t0004g0320 a0003c0007t0004g0321	9	374	0.0241	-28	c.-48 others(37): Show c.-481_-454delACACACACACACACACACACACACACAG		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding					415		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143855406	GTATATCT others(21): Show GTATATCTATATATCTATATCTATATATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0223 a0223	a0223c0325 a0223c0325	a0223c0325t0016 a0223c0325t0016	a0223c0325t0016g0194 a0223c0325t0016g0194	1	424	0.0024	-28	c.25 others(39): Show c.2553_*2580delGATATATAGATATAGATATATAGATATA		EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding					1917		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865788	AGGGTGGC others(21): Show AGGGTGGCGCCCAGCTCCTCCACGGTCAG	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0226 a0226	a0226c0326 a0226c0326	a0226c0326t0005 a0226c0326t0005	a0226c0326t0005g0050 a0226c0326t0005g0050	1	424	0.0024	-28	c.743 others(37): Show c.7438_7465delCTGACCGTGGAGGAGCTGGGCGCCACCC	p.Leu others(6): Show p.Leu2480fs	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7540/16005	7438/15267	2480/5088			chr8	TogoVar
EPRS1_chr1_219963600_220051505	220020824	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp2 HG01884.hp2 others(17): Show HG01261.hp1 HG01433.hp2 HG01884.hp2 HG02004.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02896.hp2 HG03041.hp1 HG03540.hp1 HG03579.hp1 NA19043.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0004c0006 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0005 a0001c0004t0001 a0004c0006t0001 a0007c0012t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 others(17): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0004g0008 a0001c0002t0005g0007 a0001c0004t0001g0334 a0004c0006t0001g0337 a0004c0006t0001g0338 a0004c0006t0001g0339 a0004c0006t0001g0340 a0004c0006t0001g0341 a0004c0006t0001g0342 a0004c0006t0001g0343 a0004c0006t0001g0344 a0004c0006t0001g0345 a0004c0006t0001g0346 a0007c0012t0001g0335 a0007c0012t0001g0336	20	358	0.0559	-28	c.111 others(45): Show c.1116-631_1116-604delTATATATATATATATATATATATATATA		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	9/31						chr1	TogoVar
EPS15L1_chr19_16350247_16476970	16408464	ATTTGTAA others(21): Show ATTTGTAAAAATACAAATTTTTACAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	276	0.0036	-28	c.126 others(47): Show c.1267-3743_1267-3716delATTTTGTAAAAATTTGTATTTTTACA AA		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	13/23						chr19	TogoVar
EPS15_chr1_51349263_51524266	51493528	TTAAATAA others(21): Show TTAAATAAATAAATAAATAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show HG00642.hp1 HG01109.hp2 HG01257.hp2 HG02559.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2 NA19043.hp1 NA20129.hp2	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0009	a0002c0001 a0004c0015 a0006c0010 others(1): Show a0002c0001 a0004c0015 a0006c0010 a0009c0012	a0002c0001t0007 a0002c0001t0011 a0004c0015t0011 others(2): Show a0002c0001t0007 a0002c0001t0011 a0004c0015t0011 a0006c0010t0026 a0009c0012t0007	a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 a0004c0015t0011g0152 a0006c0010t0026g0129 a0009c0012t0007g0136	9	152	0.0592	-28	c.34- others(45): Show c.34-12242_34-12215delTTTATTTATTTATTTATTTATTTATTTA		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
ERAP1_chr5_96769484_96812945	96808184	ATCCGTGT others(21): Show ATCCGTGTGTGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0006 a0009c0009t0006	a0009c0009t0006g0164 a0009c0009t0006g0164	1	416	0.0024	-28	c.-37 others(37): Show c.-370_-343delCACACACACACACACACACACACACGGA		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding					240		chr5	TogoVar
ERAP1_chr5_96769484_96812945	96808187	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02027.hp2 HG01167.hp1 HG01169.hp2 HG02027.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0001 a0007c0008t0003 a0002c0002t0001 a0007c0008t0003	a0002c0002t0001g0001 a0007c0008t0003g0008 a0002c0002t0001g0001 a0007c0008t0003g0008	3	416	0.0072	-28	c.-37 others(37): Show c.-373_-346delACACACACACACACACACACACACACAC		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding					243		chr5	TogoVar
ERBB4_chr2_211370717_212543802	211772810	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG01891.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0016 a0001c0001t0002 a0001c0002t0016	a0001c0001t0002g0024 a0001c0002t0016g0019 a0001c0001t0002g0024 a0001c0002t0016g0019	2	56	0.0357	-28	c.556 others(47): Show c.556+15187_556+15214delGTGTATATATATATATATATATATAT AT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212024471	TTCACACA others(21): Show TTCACACAGAAGTTCTAAGACAGAAACAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	56	0.0179	-28	c.235 others(47): Show c.235-76883_235-76856delCTGTTTCTGTCTTAGAACTTCTGTGT GA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212140361	ATATAGTA others(21): Show ATATAGTAATATCTATATGTTTATGTATC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp1 HG02717.hp2 others(10): Show HG01243.hp1 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02922.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028	a0001c0001t0001g0045 a0001c0001t0003g0017 a0001c0001t0004g0008 others(10): Show a0001c0001t0001g0045 a0001c0001t0003g0017 a0001c0001t0004g0008 a0001c0001t0004g0033 a0001c0001t0005g0044 a0001c0001t0007g0018 a0001c0001t0007g0043 a0001c0001t0010g0022 a0001c0001t0011g0041 a0001c0001t0020g0028 a0001c0001t0022g0006 a0001c0001t0026g0052 a0001c0001t0028g0053	13	56	0.2321	-28	c.83- others(45): Show c.83-15486_83-15459delGATACATAAACATATAGATATTACTATA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212373889	CCATATAT others(21): Show CCATATATATATATCCATGTATATATCCA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	56	0.0179	-28	c.82+ others(47): Show c.82+164532_82+164559delTGGATATATACATGGATATATATATA TG		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212399536	TTATATAT others(21): Show TTATATATACATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp2 HG01192.hp1 others(32): Show HG01069.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01496.hp1 HG01891.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0002t0001 a0001c0002t0018 a0001c0004t0021 a0002c0003t0001	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0024 others(32): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0024 a0001c0001t0002g0047 a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0044 a0001c0001t0006g0039 a0001c0001t0008g0004 a0001c0001t0008g0013 a0001c0001t0009g0023 a0001c0001t0009g0046 a0001c0001t0010g0005 a0001c0001t0010g0022 a0001c0001t0011g0041 a0001c0001t0011g0042 a0001c0001t0014g0007 a0001c0001t0017g0029 a0001c0001t0019g0002 a0001c0001t0023g0012 a0001c0001t0025g0051 a0001c0001t0026g0052 a0001c0001t0030g0056 a0001c0002t0001g0020 a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0018g0010 a0001c0004t0021g0009 a0002c0003t0001g0014	35	56	0.6250	-28	c.82+ others(47): Show c.82+138885_82+138912delTATATATATATATATATATGTATATA TA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212399558	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03225.hp1 HG03486.hp1 HG01891.hp1 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0022 a0001c0002t0016 a0001c0001t0012 a0001c0001t0022 a0001c0002t0016	a0001c0001t0012g0001 a0001c0001t0022g0006 a0001c0002t0016g0019 a0001c0001t0012g0001 a0001c0001t0022g0006 a0001c0002t0016g0019	3	56	0.0536	-28	c.82+ others(47): Show c.82+138863_82+138890delAATATATATATATATATATATATATA TA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212446578	CATATATA others(21): Show CATATATATATATGTATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp2 HG03471.hp1 others(1): Show HG02809.hp2 HG02965.hp2 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011	a0001c0001t0003g0040 a0001c0001t0004g0011 a0001c0001t0006g0039 others(1): Show a0001c0001t0003g0040 a0001c0001t0004g0011 a0001c0001t0006g0039 a0001c0001t0011g0042	4	56	0.0714	-28	c.82+ others(45): Show c.82+91843_82+91870delATATATATATATATACATATATATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBIN_chr5_65921575_66087546	66065591	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp1 HG03098.hp1 others(3): Show HG02717.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp2 NA18522.hp2 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0012 a0001c0001 a0001c0002 a0007c0012	a0001c0001t0006 a0001c0002t0002 a0007c0012t0011 a0001c0001t0006 a0001c0002t0002 a0007c0012t0011	a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 others(3): Show a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0002t0002g0209 a0007c0012t0011g0022 a0007c0012t0011g0023	6	306	0.0196	-28	c.363 others(47): Show c.3634-6536_3634-6509delGTGTGTGTGTGTGTGTGTGTGTGTGT GT		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	21/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1007488	CTCTCTTT others(21): Show CTCTCTTTCTCTCTCTCTCACTGGGTAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0147 a0001c0001t0062g0147	1	162	0.0062	-28	c.-15 others(49): Show c.-157+16172_-157+16199delTTCTCTCTCTCTCACTGGGTAATT CTCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121649	CTCTATCT others(21): Show CTCTATCTCTATCTCTATCTCTATCTCTA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02970.hp2 NA18966.hp2 others(3): Show HG01993.hp2 HG02970.hp2 NA18966.hp2 NA18982.hp2 NA19043.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 others(3): Show a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0001t0034 a0002c0002t0064 a0002c0002t0135	a0001c0001t0023g0162 a0001c0001t0029g0160 a0001c0001t0031g0118 others(3): Show a0001c0001t0023g0162 a0001c0001t0029g0160 a0001c0001t0031g0118 a0001c0001t0034g0161 a0002c0002t0064g0069 a0002c0002t0135g0093	6	162	0.0370	-28	c.156 others(47): Show c.1569+5648_1569+5675delATCTCTATCTCTATCTCTATCTCTAT CT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196905	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00738.hp1 others(32): Show HG00323.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01981.hp1 HG01993.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02602.hp1 HG02615.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp1 NA18966.hp2 NA18982.hp2 NA19090.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0006c0009 a0009c0008	a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 others(32): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0045 a0001c0001t0058 a0001c0001t0061 a0001c0001t0074 a0001c0001t0083 a0001c0001t0090 a0001c0001t0091 a0001c0001t0103 a0002c0002t0018 a0002c0002t0037 a0002c0002t0047 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0060 a0002c0002t0100 a0003c0004t0003 a0003c0004t0009 a0003c0004t0010 a0003c0004t0096 a0006c0009t0025 a0009c0008t0041	a0001c0001t0003g0029 a0001c0001t0005g0041 a0001c0001t0019g0120 others(32): Show a0001c0001t0003g0029 a0001c0001t0005g0041 a0001c0001t0019g0120 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0023g0162 a0001c0001t0024g0112 a0001c0001t0028g0129 a0001c0001t0030g0109 a0001c0001t0031g0118 a0001c0001t0033g0111 a0001c0001t0034g0161 a0001c0001t0045g0066 a0001c0001t0058g0141 a0001c0001t0061g0153 a0001c0001t0074g0039 a0001c0001t0083g0130 a0001c0001t0090g0032 a0001c0001t0091g0028 a0001c0001t0103g0132 a0002c0002t0018g0117 a0002c0002t0037g0042 a0002c0002t0047g0104 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0060g0040 a0002c0002t0100g0134 a0003c0004t0003g0058 a0003c0004t0009g0059 a0003c0004t0010g0053 a0003c0004t0096g0063 a0006c0009t0025g0110 a0009c0008t0041g0140	35	162	0.2161	-28	c.235 others(47): Show c.2351+6883_2351+6910delCACACACACACACACACACACACACA CA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1341069	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	162	0.0062	-28	c.278 others(49): Show c.2781-30749_2781-30722delTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1424832	TAGATAGA others(21): Show TAGATAGATAGATGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01952.hp2 HG01346.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0057 a0001c0001t0040 a0001c0001t0057	a0001c0001t0040g0150 a0001c0001t0057g0156 a0001c0001t0040g0150 a0001c0001t0057g0156	2	162	0.0124	-28	c.302 others(49): Show c.3024+16586_3024+16613delAGATAGATAGATGATAGATAGATA GATA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18						chr12	TogoVar
ERC1_chr12_986223_1500931	1424836	TAGATAGA others(21): Show TAGATAGATGATAGATAGATAGATAGATC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18612.hp2 NA18982.hp2 others(1): Show HG02615.hp2 NA18612.hp2 NA18982.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0001t0023 a0001c0001t0049 others(1): Show a0001c0001t0011 a0001c0001t0023 a0001c0001t0049 a0001c0003t0022	a0001c0001t0011g0034 a0001c0001t0023g0162 a0001c0001t0049g0157 others(1): Show a0001c0001t0011g0034 a0001c0001t0023g0162 a0001c0001t0049g0157 a0001c0003t0022g0114	4	162	0.0247	-28	c.302 others(49): Show c.3024+16590_3024+16617delAGATAGATGATAGATAGATAGATA GATC		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18						chr12	TogoVar
ERC1_chr12_986223_1500931	1424840	TAGATGAT others(21): Show TAGATGATAGATAGATAGATAGATCGATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02451.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0133 a0002c0002t0131 a0001c0001t0133 a0002c0002t0131	a0001c0001t0133g0094 a0002c0002t0131g0065 a0001c0001t0133g0094 a0002c0002t0131g0065	2	162	0.0124	-28	c.302 others(49): Show c.3024+16594_3024+16621delAGATGATAGATAGATAGATAGATC GATA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18						chr12	TogoVar
ERC1_chr12_986223_1500931	1440600	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0034 a0001c0001t0011g0034	1	162	0.0062	-28	c.302 others(47): Show c.3025-3921_3025-3894delTGTGTGTGTGTGTGTGTGTGTGTGTG TG		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55583355	CTGCCTGC others(21): Show CTGCCTGCCTGCCTGCCTTCTTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0073 a0001c0001t0009g0073	1	74	0.0135	-28	c.40 others(47): Show c.40-72107_*40-72080delAGAAGGAAAGAAGGCAGGCAGGCAGG CA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55714661	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	74	0.0135	-28	c.271 others(49): Show c.2713-15177_2713-15150delTATATATATATATATATATATACA CACA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55720215	TTCTTCTT others(21): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0025 a0002c0003t0003g0025	1	74	0.0135	-28	c.271 others(49): Show c.2712+14528_2712+14555delGAGAAGAAGAAGAAGAAGAAGAAG AAGA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56311233	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0001 a0001c0002t0004g0001	1	74	0.0135	-28	c.658 others(47): Show c.658-14826_658-14799delTATATAGAGAGAGAGAGAGAGAGAGA GA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17						chr3	TogoVar

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