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 limited to 10,000 hits. Refine your search for more specific results.

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
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0004 a0001c0012t0003g0004	2	398	0.0050	32	c.915 others(49): Show c.915+5056_915+5057insAAAAAAAAAAAAAATATATATATATATA TATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD4_chr15_41890933_41977557	41902839	G G	GTATATAT others(25): Show GTATATATATGTATGTATATATATACATATGTA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19056.hp2 NA19084.hp1 others(1): Show NA18970.hp2 NA19056.hp2 NA19084.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0001 a0001c0001t0001 a0003c0009t0001	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0174 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0174 a0003c0009t0001g0349	4	360	0.0111	32	c.109 others(51): Show c.1090-1659_1090-1658insTACATATGTATATATATACATACATA TATATA	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	5/5			chr15	TogoVar
EHMT1_chr9_137614005_137841127	137716360	T T	TGTGGTGG others(25): Show TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	170	0.0059	32	c.86- others(45): Show c.86-260_86-259insGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716360	T T	TGTGTTGG others(25): Show TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0063 a0001c0005t0001g0063	1	170	0.0059	32	c.86- others(45): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716361	G G	GTGTTGGT others(25): Show GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19079.hp1 NA19080.hp2 NA18982.hp2 NA19079.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0002g0079 a0001c0001t0002g0123 a0001c0001t0001g0077 a0001c0001t0002g0079 a0001c0001t0002g0123	3	170	0.0177	32	c.86- others(45): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137725049	G G	GGGGCAGG others(25): Show GGGGCAGGCGTGTGGCATTTGTGTGGCATTCAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0170 a0001c0009t0001g0170	1	170	0.0059	32	c.643 others(49): Show c.643-3281_643-3250dupTGTGTGGCATTCATGGGCAGGCGTGTGG CATT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF1AX_chrX_20119525_20146838	20122369	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0075 a0001c0001t0025g0075	1	278	0.0036	32	c.59 others(43): Show c.5936_*5937insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding		2155		chrX	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02074.hp1 HG02135.hp1 others(7): Show HG00438.hp2 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02273.hp1 NA18946.hp2 NA18953.hp2 NA18981.hp1 NA19084.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0013 a0002c0003t0031 a0002c0003t0001 a0002c0003t0013 a0002c0003t0031	a0002c0003t0001g0011 a0002c0003t0001g0228 a0002c0003t0001g0264 others(6): Show a0002c0003t0001g0011 a0002c0003t0001g0228 a0002c0003t0001g0264 a0002c0003t0001g0266 a0002c0003t0001g0288 a0002c0003t0001g0296 a0002c0003t0001g0386 a0002c0003t0013g0276 a0002c0003t0031g0396	10	418	0.0239	32	c.630 others(47): Show c.630+337_630+338insTATATATATATATATATATATATATATATA TA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	418	0.0024	32	c.119 others(49): Show c.119-1910_119-1909insATATATATATATATATATTTTTTTTTTT TTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19000.hp1 NA19056.hp2 NA18980.hp2 NA19000.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089	3	418	0.0072	32	c.119 others(49): Show c.119-1910_119-1909insATATATATATATATATATATTTTTTTTT TTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	418	0.0024	32	c.119 others(49): Show c.119-1910_119-1909insATATATATATATATATATATATTTTTTT TTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18941.hp1 NA18985.hp2 others(2): Show HG03831.hp2 NA18941.hp1 NA18985.hp2 NA18986.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 others(2): Show a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035	5	322	0.0155	32	c.-10 others(49): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2S2_chr20_34083309_34117243	34111939	C C	CGGGGGGG others(25): Show CGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	362	0.0028	32	c.15+ others(45): Show c.15+156_15+157insCCCCCCCCCCCTCCCCCCCCCCCCCCCCCCCC	EIF2S2	ENSG00000125977.7	transcript	ENST00000374980.3	protein_coding	1/8			chr20	TogoVar
EIF3A_chr10_119028670_119085817	119052366	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01516.hp2 NA18967.hp2 HG00544.hp2 HG01516.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0003 a0001c0001t0002 a0001c0005t0003	a0001c0001t0002g0057 a0001c0001t0002g0137 a0001c0005t0003g0050 a0001c0001t0002g0057 a0001c0001t0002g0137 a0001c0005t0003g0050	3	350	0.0086	32	c.219 others(51): Show c.2197-1046_2197-1045insCACACACACACACACACACACACACA CACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01993.hp2 HG02074.hp2 others(7): Show HG01175.hp2 HG01993.hp2 HG02074.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp2 NA18982.hp2 NA18987.hp2 NA19089.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0040 a0001c0001t0002g0059 others(7): Show a0001c0001t0002g0007 a0001c0001t0002g0040 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0002g0090 a0001c0001t0002g0108 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0142 a0001c0001t0002g0143	10	350	0.0286	32	c.219 others(51): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3E_chr8_108196216_108253717	108201250	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG02647.hp1 HG00140.hp2 HG01069.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0094 a0001c0001t0015g0174 a0001c0001t0015g0183 a0001c0001t0015g0094 a0001c0001t0015g0174 a0001c0001t0015g0183	3	348	0.0086	32	c.63 others(41): Show c.634_*635insATATATATATATATATATATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	13/13	634		chr8	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18979.hp1 NA19012.hp2 others(2): Show NA18941.hp2 NA18979.hp1 NA19012.hp2 NA19057.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0180 a0001c0001t0004g0185 others(2): Show a0001c0001t0004g0085 a0001c0001t0004g0180 a0001c0001t0004g0185 a0001c0001t0004g0190 a0001c0001t0004g0191	5	336	0.0149	32	c.707 others(49): Show c.707+2507_707+2508insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03710.hp1 HG02717.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0291 a0001c0001t0001g0135 a0001c0001t0001g0291	2	318	0.0063	32	c.580 others(49): Show c.580-1517_580-1516insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	372	0.0027	32	c.979 others(49): Show c.979+2250_979+2251insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53043060	T T	TCTTTTTT others(25): Show TCTTTTTTTTTTCCCCCCCCCACCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0152 a0004c0008t0001g0152	1	372	0.0027	32	c.28 others(43): Show c.2837_*2838insCTTTTTTTTTTCCCCCCCCCACCCCCCCCCCC	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding		846		chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0290 a0001c0003t0001g0290	1	366	0.0027	32	c.299 others(47): Show c.299-733_299-732insATATATATATATATATATATATTTTTTTTT TT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	21180124	C C	CATATATT others(25): Show CATATATTATATATAATATATATTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	312	0.0032	32	c.-38 others(43): Show c.-3859_-3858insATTATATATAATATATATTATATATAATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3228		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109183586	T T	TTTCTTCC others(25): Show TTTCTTCCTTTCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02300.hp2 HG02683.hp2 others(6): Show HG01346.hp1 HG02300.hp2 HG02683.hp2 HG02886.hp2 HG02896.hp2 HG03041.hp1 HG03704.hp1 NA18522.hp1 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0038 others(3): Show a0001c0001 a0001c0002 a0001c0038 a0002c0005 a0002c0027 a0003c0031	a0001c0001t0001 a0001c0002t0001 a0001c0002t0015 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0015 a0001c0038t0015 a0002c0005t0016 a0002c0027t0030 a0003c0031t0004	a0001c0001t0001g0101 a0001c0002t0001g0138 a0001c0002t0001g0195 others(6): Show a0001c0001t0001g0101 a0001c0002t0001g0138 a0001c0002t0001g0195 a0001c0002t0015g0218 a0001c0038t0015g0214 a0002c0005t0016g0083 a0002c0005t0016g0084 a0002c0027t0030g0094 a0003c0031t0004g0088	9	230	0.0391	32	c.953 others(49): Show c.953-1458_953-1457insTCTTCCTTTCTTCCTTCCTTCCTTCCCT CCCT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109183598	T T	TTCCCTCC others(25): Show TTCCCTCCCTCCCTCCTTCCTTCCTTCTTTCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02257.hp2 HG02630.hp2 others(6): Show HG00642.hp1 HG02257.hp2 HG02630.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03486.hp2 NA19043.hp2	a0002 a0002	a0002c0005 a0002c0020 a0002c0005 a0002c0020	a0002c0005t0006 a0002c0005t0025 a0002c0020t0006 a0002c0005t0006 a0002c0005t0025 a0002c0020t0006	a0002c0005t0006g0012 a0002c0005t0006g0014 a0002c0005t0006g0015 others(6): Show a0002c0005t0006g0012 a0002c0005t0006g0014 a0002c0005t0006g0015 a0002c0005t0006g0016 a0002c0005t0006g0060 a0002c0005t0006g0061 a0002c0005t0025g0011 a0002c0020t0006g0154 a0002c0020t0006g0171	9	230	0.0391	32	c.953 others(49): Show c.953-1444_953-1443insCTCCCTCCCTCCTTCCTTCCTTCTTTCC ATCC	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7953841	T T	TGGGGGGA others(25): Show TGGGGGGAGGAGGCTGCCCTGGAGGCGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	276	0.0036	32	c.96 others(43): Show c.9641_*9642insTCCCTCCGCCTCCAGGGCAGCCTCCTCCCCCC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		4731		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957359	G G	GAAAGAAA others(25): Show GAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	276	0.0036	32	c.61 others(43): Show c.6123_*6124insTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1213		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01099.hp1 NA18747.hp2 others(1): Show HG00558.hp1 HG01099.hp1 NA18747.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0089 a0001c0001t0002g0003 a0001c0001t0002g0189 others(1): Show a0001c0001t0001g0089 a0001c0001t0002g0003 a0001c0001t0002g0189 a0001c0004t0001g0107	4	276	0.0145	32	c.60 others(43): Show c.6094_*6095insCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG06807.hp2 HG03098.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0008 a0001c0001t0025g0038 a0001c0001t0001g0008 a0001c0001t0025g0038	2	276	0.0073	32	c.60 others(43): Show c.6094_*6095insCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0235 a0001c0001t0012g0235	1	276	0.0036	32	c.60 others(43): Show c.6094_*6095insCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(25): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0139 a0001c0001t0006g0139	1	276	0.0036	32	c.60 others(43): Show c.6094_*6095insCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19012.hp1 NA19065.hp1 NA18991.hp1 NA19012.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0048 a0001c0001t0003g0065 a0001c0002t0002g0022 a0001c0001t0001g0048 a0001c0001t0003g0065 a0001c0002t0002g0022	3	352	0.0085	32	c.230 others(49): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELF2_chr4_139052265_139182218	139151031	A A	AAGAAAAG others(25): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp2 HG02258.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0207 a0001c0001t0003g0210 a0001c0001t0002g0207 a0001c0001t0003g0210	2	342	0.0059	32	c.-25 others(53): Show c.-251-11535_-251-11534insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELFN1_chr7_1665277_1752946	1719289	A A	ACCAACAG others(25): Show ACCAACAGGGCCCCGCCCACCAACAGGGCCCCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02451.hp1 others(13): Show HG01243.hp2 HG02258.hp2 HG02451.hp1 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA20805.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0015c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0038 a0001c0001t0048 a0001c0005t0010 a0002c0003t0024 a0015c0023t0003	a0001c0001t0001g0018 a0001c0001t0003g0133 a0001c0001t0003g0134 others(13): Show a0001c0001t0001g0018 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0186 a0001c0001t0005g0136 a0001c0001t0008g0123 a0001c0001t0008g0131 a0001c0001t0020g0009 a0001c0001t0020g0132 a0001c0001t0025g0004 a0001c0001t0026g0135 a0001c0001t0038g0296 a0001c0001t0048g0124 a0001c0005t0010g0141 a0002c0003t0024g0037 a0015c0023t0003g0130	16	302	0.0530	32	c.-29 others(53): Show c.-294+10063_-294+10064insGCCCCGCCAACAGGGCCCCGCCCA CCAACAGG	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0016 a0001c0003t0012g0016	1	314	0.0032	32	c.482 others(47): Show c.482-515_482-514insAAAAAAAAAAAAAAAAAATATATATATATA TA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(25): Show TACACACACACACGTGTGTATATATAGACATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	314	0.0032	32	c.196 others(49): Show c.196-7856_196-7855insGTATGTCTATATATACACACGTGTGTGT GTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927408	C C	CACGTGTG others(25): Show CACGTGTGTATATATAGACATACACACACACGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	2	314	0.0064	32	c.196 others(49): Show c.196-7864_196-7863insACGTGTGTGTGTATGTCTATATATACAC ACGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03453.hp1 HG01074.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0001g0186 a0001c0001t0001g0202	2	244	0.0082	32	c.870 others(49): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36897336	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 NA18906.hp1 HG02055.hp1 HG02055.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0003g0065 a0001c0001t0005g0073 a0001c0002t0001g0070 a0001c0001t0003g0065 a0001c0001t0005g0073 a0001c0002t0001g0070	3	92	0.0326	32	c.143 others(51): Show c.1438-2320_1438-2319insTACACACACACACACACACACACACA CACACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG01243.hp1 others(2): Show HG00735.hp2 HG01192.hp2 HG01243.hp1 HG03492.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0004 a0002c0008t0004 a0001c0001t0001 a0001c0001t0004 a0002c0008t0004	a0001c0001t0001g0029 a0001c0001t0001g0083 a0001c0001t0004g0046 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0083 a0001c0001t0004g0046 a0001c0001t0004g0057 a0002c0008t0004g0034	5	92	0.0544	32	c.108 others(53): Show c.1087-28672_1087-28671insATATATATATATATATATATATAT ATATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(25): Show GGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA19088.hp1 NA18747.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0004g0032 a0002c0003t0001g0108 a0001c0001t0004g0032 a0002c0003t0001g0108	2	312	0.0064	32	c.-47 others(43): Show c.-4772_-4771insACACACACACACACACACACACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGG others(25): Show GGGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0139 a0001c0001t0005g0139	1	312	0.0032	32	c.-47 others(43): Show c.-4772_-4771insACACACACACACACACACACACCCGCCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(25): Show CGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 NA19078.hp1 NA19090.hp2 HG01074.hp1 NA19078.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0037 a0001c0001t0001g0125 a0001c0001t0003g0054 a0001c0001t0001g0037 a0001c0001t0001g0125 a0001c0001t0003g0054	3	312	0.0096	32	c.-47 others(43): Show c.-4774_-4773insACACACACACACACACACACACACACACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELOA_chr1_23738471_23767059	23758255	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	400	0.0025	32	c.225 others(51): Show c.2257+1133_2257+1134insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOC_chr8_73940119_73977191	73975355	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0026	1	404	0.0025	32	c.-33 others(43): Show c.-3330_-3329insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3165		chr8	TogoVar
ELOVL2_chr6_10975759_11049305	10978310	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	380	0.0026	32	c.54 others(43): Show c.5470_*5471insTTATATATATATATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2448		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	10996743	T T	TGAGGCAG others(25): Show TGAGGCAGGTGCATCACCTGAGGTAGGGAGGCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0277 a0001c0001t0025g0277	1	380	0.0026	32	c.334 others(49): Show c.334-1597_334-1566dupGGCCTCCCTACCTCAGGTGATGCACCTG CCTC	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	4/7			chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01256.hp1 HG02155.hp2 others(5): Show HG01106.hp1 HG01256.hp1 HG02155.hp2 NA18941.hp1 NA18943.hp1 NA18984.hp2 NA18994.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 others(5): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0007g0052	8	380	0.0211	32	c.3+7 others(43): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084237	A A	ATATAACT others(25): Show ATATAACTTATATGATATATATAACATATAACT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19082.hp1 NA18945.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0131 a0001c0001t0003g0132	2	338	0.0059	32	c.221 others(51): Show c.221+21259_221+21260insAGTTATATGTTATATATATCATATAA GTTATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0006 a0001c0001t0046g0006	1	338	0.0030	32	c.90- others(49): Show c.90-12276_90-12275insATATATATATATATATTTTTTTTTTTTT TTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	338	0.0030	32	c.90- others(49): Show c.90-12276_90-12275insATATATATATATATATATATATATTTTT TTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar

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