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
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02135.hp1 HG03927.hp2 HG01099.hp1 HG02135.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0148 a0001c0001t0001g0190 a0001c0001t0001g0040 a0001c0001t0001g0148 a0001c0001t0001g0190	3	342	0.0088	36	c.-55 others(47): Show c.-5540_-5539insGTATATATATATATATATATATATATATATATAT AT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGTG others(29): Show TGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	272	0.0037	36	c.137 others(55): Show c.137+19208_137+19209insTGTGTGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02135.hp2 HG03492.hp1 others(2): Show HG01358.hp1 HG02135.hp2 HG03492.hp1 NA18989.hp1 NA19011.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0005 a0001c0001t0007 a0003c0002t0007 a0001c0001t0005 a0001c0001t0007 a0003c0002t0007	a0001c0001t0005g0030 a0001c0001t0007g0024 a0001c0001t0007g0034 others(2): Show a0001c0001t0005g0030 a0001c0001t0007g0024 a0001c0001t0007g0034 a0003c0002t0007g0043 a0003c0002t0007g0055	5	346	0.0145	36	c.-20 others(47): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp1 HG01243.hp2 others(14): Show HG00140.hp1 HG01109.hp1 HG01243.hp2 HG01496.hp1 HG01981.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp2 HG02922.hp1 HG03225.hp1 HG03669.hp2 NA18971.hp1 NA18994.hp2 NA19009.hp2 NA19054.hp2 NA19088.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0038 a0001c0004t0001 a0001c0004t0009 a0001c0004t0017 a0001c0006t0006 a0002c0005t0003	a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0232 others(14): Show a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0232 a0001c0001t0003g0083 a0001c0001t0003g0091 a0001c0001t0003g0104 a0001c0001t0003g0147 a0001c0001t0004g0160 a0001c0001t0005g0086 a0001c0001t0005g0135 a0001c0001t0010g0122 a0001c0001t0038g0069 a0001c0004t0001g0277 a0001c0004t0009g0275 a0001c0004t0017g0281 a0001c0006t0006g0262 a0002c0005t0003g0253	17	284	0.0599	36	c.410 others(55): Show c.410+50088_410+50089insATATATATATATATATATATATATAT ATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB6_chr22_43523778_43817305	43618143	G G	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG02074.hp2 others(6): Show HG00597.hp1 HG01081.hp1 HG02074.hp2 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02683.hp1 NA19005.hp2 NA19083.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0012	a0001c0013 a0003c0003 a0006c0006 others(1): Show a0001c0013 a0003c0003 a0006c0006 a0012c0016	a0001c0013t0001 a0003c0003t0001 a0003c0003t0008 others(2): Show a0001c0013t0001 a0003c0003t0001 a0003c0003t0008 a0006c0006t0001 a0012c0016t0001	a0001c0013t0001g0187 a0001c0013t0001g0208 a0003c0003t0001g0183 others(6): Show a0001c0013t0001g0187 a0001c0013t0001g0208 a0003c0003t0001g0183 a0003c0003t0001g0209 a0003c0003t0001g0218 a0003c0003t0001g0220 a0003c0003t0008g0287 a0006c0006t0001g0276 a0012c0016t0001g0274	9	290	0.0310	36	c.246 others(55): Show c.2466-2222_2466-2221insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	290	0.0035	36	c.246 others(55): Show c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCTTTCTTTCCT TCCTTCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784543	G G	GTATATAT others(29): Show GTATATATACACATATATATGTGTATATATACACATA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0166 a0004c0009t0001g0166	1	290	0.0035	36	c.-7- others(51): Show c.-7-2219_-7-2218insTATGTGTATATATACACATATATATGTGTA TATATA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784664	C C	CACATATA others(29): Show CACATATATGTGTATATGTATACATATATATGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0023 a0023	a0023c0034 a0023c0034	a0023c0034t0001 a0023c0034t0001	a0023c0034t0001g0082 a0023c0034t0001g0082	1	290	0.0035	36	c.-7- others(51): Show c.-7-2340_-7-2339insACACACATATATATGTATACATATACACAT ATATGT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB7_chr1_63518525_63577693	63562449	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	374	0.0027	36	c.149 others(53): Show c.1497+603_1497+638dupTATATATATATATATATATATATATATA TATATATA	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB8_chr20_32853923_32966845	32940003	G G	GCCTCCCT others(29): Show GCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0007 a0017c0017t0007	a0017c0017t0007g0217 a0017c0017t0007g0217	1	284	0.0035	36	c.279 others(55): Show c.2791-3610_2791-3609insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG02572.hp2 HG03942.hp2 others(1): Show HG00408.hp1 HG02572.hp2 HG03942.hp2 NA19087.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0054 a0002c0002t0055 a0004c0004t0026 a0001c0001t0054 a0002c0002t0055 a0004c0004t0026	a0001c0001t0054g0301 a0002c0002t0055g0214 a0004c0004t0026g0013 others(1): Show a0001c0001t0054g0301 a0002c0002t0055g0214 a0004c0004t0026g0013 a0004c0004t0026g0140	4	396	0.0101	36	c.10 others(47): Show c.1044_*1045insATATATATATATATATATATATATATATATATAT AT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11	1045	INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp1 HG02257.hp1 others(8): Show HG00438.hp2 HG01243.hp1 HG02257.hp1 HG02523.hp2 HG02723.hp1 HG02976.hp2 HG03486.hp1 NA18945.hp1 NA18955.hp1 NA18985.hp1 NA19085.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0006 a0007c0009 others(1): Show a0001c0001 a0001c0006 a0007c0009 a0008c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 a0001c0006t0001 a0007c0009t0017 a0008c0010t0006	a0001c0001t0001g0017 a0001c0001t0001g0104 a0001c0001t0003g0141 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0104 a0001c0001t0003g0141 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0018g0019 a0001c0006t0001g0030 a0007c0009t0017g0176 a0008c0010t0006g0163	11	221	0.0498	36	c.175 others(55): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATATATATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0135 a0001c0001t0010g0135	1	221	0.0045	36	c.175 others(55): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATATATACA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232650559	G G	GCTGAGAT others(29): Show GCTGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp1 HG01891.hp1 others(30): Show HG01109.hp1 HG01361.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02622.hp1 HG02647.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA18967.hp2 NA18979.hp1 NA18998.hp1 NA19043.hp1 NA19043.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0004t0001 a0001c0004t0003 a0001c0006t0001 a0001c0006t0005 a0002c0002t0001 a0002c0002t0022 a0002c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0265 others(30): Show a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0265 a0001c0001t0001g0356 a0001c0001t0003g0037 a0001c0001t0003g0228 a0001c0001t0003g0247 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0307 a0001c0001t0005g0286 a0001c0001t0007g0290 a0001c0001t0008g0285 a0001c0001t0008g0287 a0001c0001t0008g0289 a0001c0001t0009g0271 a0001c0001t0010g0298 a0001c0001t0016g0216 a0001c0004t0001g0167 a0001c0004t0001g0182 a0001c0004t0003g0190 a0001c0006t0001g0034 a0001c0006t0001g0267 a0001c0006t0005g0288 a0001c0006t0005g0365 a0001c0006t0005g0366 a0002c0002t0001g0046 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0232 a0002c0002t0022g0263 a0002c0003t0001g0120 a0002c0003t0001g0220	33	382	0.0864	36	c.303 others(55): Show c.303-12241_303-12240insGAGATTGCAGGCGTGAGCCACCATGC CCAGCTGCCT	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(29): Show GACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01884.hp1 HG02523.hp2 others(3): Show HG00099.hp1 HG01884.hp1 HG02523.hp2 NA18950.hp2 NA18986.hp2 NA19075.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0005 a0002c0002 a0006c0009 a0001c0005 a0002c0002 a0006c0009	a0001c0005t0001 a0002c0002t0001 a0006c0009t0001 a0001c0005t0001 a0002c0002t0001 a0006c0009t0001	a0001c0005t0001g0022 a0002c0002t0001g0075 a0002c0002t0001g0080 others(3): Show a0001c0005t0001g0022 a0002c0002t0001g0075 a0002c0002t0001g0080 a0002c0002t0001g0204 a0002c0002t0001g0343 a0006c0009t0001g0355	6	368	0.0163	36	c.175 others(55): Show c.1750+3121_1750+3122insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02738.hp2 HG04184.hp1 others(1): Show HG02293.hp2 HG02738.hp2 HG04184.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0030	a0001c0001t0002g0022 a0001c0001t0004g0072 a0001c0001t0007g0146 others(1): Show a0001c0001t0002g0022 a0001c0001t0004g0072 a0001c0001t0007g0146 a0001c0001t0030g0159	4	190	0.0211	36	c.126 others(55): Show c.126-48538_126-48537insTACATATATATATATATATATATATA TATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3A_chr8_131899093_132018642	132010405	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	412	0.0024	36	c.236 others(53): Show c.2361-384_2361-383insTATATATATATATATATATATATATATA TATATATA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
EGR3_chr8_22682659_22698480	22688978	G G	GAGATGTG others(29): Show GAGATGTGTATATGTGTATACACACATATCCATACAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0045 a0001c0001t0025g0045	1	374	0.0027	36	c.14 others(47): Show c.1459_*1494dupATGTATGGATATGTGTGTATACACATATACACAT CT	EGR3	ENSG00000179388.9	transcript	ENST00000317216.3	protein_coding	2/2	1494		chr8	TogoVar
EHD2_chr19_47708422_47748134	47718689	C C	CGGACTCC others(29): Show CGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(102): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01192.hp2 HG01256.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02735.hp1 HG02735.hp2 HG03239.hp2 HG03453.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0015 a0001c0020 a0001c0024 a0005c0017	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 others(7): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0004t0002 a0001c0004t0007 a0001c0005t0002 a0001c0015t0001 a0001c0020t0001 a0001c0024t0001 a0005c0017t0014	a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0057 others(101): Show a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0235 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0382 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0002t0002g0001 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0002g0140 a0001c0002t0002g0185 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0230 a0001c0002t0002g0232 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0261 a0001c0002t0002g0266 a0001c0002t0002g0270 a0001c0002t0002g0272 a0001c0002t0002g0275 a0001c0002t0002g0369 a0001c0002t0002g0392 a0001c0002t0002g0393 a0001c0003t0002g0367 a0001c0003t0002g0368 a0001c0004t0002g0234 a0001c0004t0007g0366 a0001c0005t0002g0130 a0001c0005t0002g0184 a0001c0005t0002g0372 a0001c0015t0001g0233 a0001c0020t0001g0056 a0001c0024t0001g0330 a0005c0017t0014g0203	105	398	0.2638	36	c.502 others(51): Show c.502+130_502+165dupGTCTGAGGGAGGAGGGGCTGGGGTCTGGAC TCCTGG	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD3_chr2_31229152_31274451	31245528	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0201 a0001c0001t0036g0201	1	378	0.0027	36	c.404 others(53): Show c.404+1104_404+1105insATATATATATATATATATATATATATAT ATATATAT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18939.hp2 NA18948.hp2 others(2): Show HG01358.hp2 NA18939.hp2 NA18948.hp2 NA18995.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0020 a0002c0003t0001 a0001c0001t0020 a0002c0003t0001	a0001c0001t0020g0280 a0002c0003t0001g0240 a0002c0003t0001g0252 others(2): Show a0001c0001t0020g0280 a0002c0003t0001g0240 a0002c0003t0001g0252 a0002c0003t0001g0269 a0002c0003t0001g0294	5	418	0.0120	36	c.630 others(51): Show c.630+337_630+338insTATATATATATATATATATATATATATATA TATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	418	0.0024	36	c.119 others(53): Show c.119-1910_119-1909insATATATATATATATATATATTTTTTTTT TTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	418	0.0024	36	c.119 others(53): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	418	0.0024	36	c.119 others(53): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATATTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0315 a0001c0001t0005g0315	1	418	0.0024	36	c.119 others(53): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATATATAT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2S1_chr14_67355328_67391516	67389933	G G	GCCCATCC others(29): Show GCCCATCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0035 a0003c0004t0035	a0003c0004t0035g0001 a0003c0004t0035g0001	1	368	0.0027	36	c.64 others(47): Show c.6493_*6494insCCCATCCCCCCCCCCCCCCCCCCCCCCCCTCCCC CC	EIF2S1	ENSG00000134001.15	transcript	ENST00000256383.11	protein_coding		3418		chr14	TogoVar
EIF3A_chr10_119028670_119085817	119052366	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	350	0.0029	36	c.219 others(55): Show c.2197-1046_2197-1045insCACACACACACACACACACACACACA CACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG01934.hp2 others(9): Show HG00099.hp1 HG01167.hp2 HG01934.hp2 HG02155.hp1 HG02280.hp1 HG03453.hp1 NA18947.hp1 NA18983.hp1 NA19005.hp1 NA19068.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0002 a0001c0002t0003 a0003c0004t0017 a0001c0001t0002 a0001c0002t0003 a0003c0004t0017	a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 others(9): Show a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0002t0003g0028 a0003c0004t0017g0022	12	350	0.0343	36	c.219 others(55): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3E_chr8_108196216_108253717	108201250	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0103 a0001c0001t0018g0103	1	348	0.0029	36	c.63 others(45): Show c.634_*635insATATATATATATATATATATATATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	13/13	634		chr8	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19004.hp1 NA19085.hp2 NA19003.hp2 NA19004.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0188 a0001c0001t0004g0195 a0001c0001t0004g0176 a0001c0001t0004g0188 a0001c0001t0004g0195	3	336	0.0089	36	c.707 others(53): Show c.707+2507_707+2508insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	400	0.0025	36	c.40 others(45): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	318	0.0031	36	c.580 others(53): Show c.580-1517_580-1516insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19009.hp2 NA18965.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0314 a0001c0001t0001g0304 a0001c0001t0001g0314	2	366	0.0055	36	c.299 others(51): Show c.299-733_299-732insATATATATATATATATATATATTTTTTTTT TTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	366	0.0027	36	c.299 others(51): Show c.299-733_299-732insATATATATATATATATATATATATTTTTTT TTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	366	0.0027	36	c.299 others(51): Show c.299-733_299-732insATATATATATATATATATATATATATTTTT TTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20814776	C C	CCCCTCCC others(29): Show CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	312	0.0032	36	c.451 others(55): Show c.4516-1538_4516-1537insAGAGGGAGAGGGGGAGGGGGAGGGGG AGGGGGAGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF5B_chr2_99332389_99406326	99338993	A A	AATATATA others(29): Show AATATATATATACAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01358.hp1 HG01070.hp2 HG01071.hp1 HG01358.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0021 a0001c0005t0002g0298 a0001c0005t0002g0021 a0001c0005t0002g0298	3	342	0.0088	36	c.35+ others(51): Show c.35+1417_35+1418insAATATATATATATATATATATATATATATA TATACA	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3269331	A A	ATCGCACT others(29): Show ATCGCACTCAGTCATCGCACTCAGTCATCGCACTCAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01192.hp1 others(13): Show HG00140.hp2 HG01074.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG02273.hp2 HG02886.hp1 HG03516.hp2 HG03704.hp2 NA18945.hp1 NA18952.hp2 NA18971.hp1 NA18995.hp1 NA19004.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0079 others(13): Show a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0219 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085	16	250	0.0640	36	c.260 others(55): Show c.260-11877_260-11876insCTGAGTGCGATGACTGAGTGCGATGA CTGAGTGCGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315483	A A	ATCACCAC others(29): Show ATCACCACCATCCCCATCCACAGCCCCACCACCATCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01071.hp2 others(12): Show HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01243.hp2 HG01346.hp2 HG01978.hp1 HG02273.hp2 HG03490.hp2 HG04228.hp1 NA18945.hp2 NA19090.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0002	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(12): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0003g0028 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0120 a0001c0001t0008g0076 a0001c0002t0002g0142	15	250	0.0600	36	c.259 others(55): Show c.259+22533_259+22534insGGATGGTGGTGGGGCTGTGGATGGGG ATGGTGGTGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATAC others(29): Show CCCCATACACACCCCCTACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	250	0.0040	36	c.259 others(55): Show c.259+22374_259+22375insATGGTGGTGATGGTGGTGGTAGGGGG TGTGTATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATCC others(29): Show CCCCATCCACACCCCCTACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	250	0.0040	36	c.259 others(55): Show c.259+22374_259+22375insATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3320102	A A	AACACCAC others(29): Show AACACCACCCCTGCAGGCAGAGCAATATCACACCTGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG03225.hp1 HG02622.hp2 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0016 a0001c0001t0002g0010 a0001c0005t0001g0104 a0001c0001t0001g0016 a0001c0001t0002g0010 a0001c0005t0001g0104	3	250	0.0120	36	c.259 others(55): Show c.259+17914_259+17915insGCAGGTGTGATATTGCTCTGCCTGCA GGGGTGGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3320139	G G	GGGCAACA others(29): Show GGGCAACACCACCCCTGCGGGCAACACCACCCCTGCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG03041.hp2 others(1): Show HG02818.hp2 HG02886.hp1 HG03041.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0004g0103	4	250	0.0160	36	c.259 others(55): Show c.259+17877_259+17878insTGCAGGGGTGGTGTTGCCCGCAGGGG TGGTGTTGCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01261.hp1 NA19082.hp1 HG00099.hp1 HG01261.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0006 a0001c0001t0002g0173 a0001c0001t0007g0108 a0001c0001t0002g0006 a0001c0001t0002g0173 a0001c0001t0007g0108	3	276	0.0109	36	c.60 others(47): Show c.6094_*6095insCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	276	0.0036	36	c.60 others(47): Show c.6094_*6095insCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTT TC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(29): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0203 a0001c0001t0006g0203	1	276	0.0036	36	c.60 others(47): Show c.6094_*6095insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	352	0.0028	36	c.230 others(53): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELF2_chr4_139052265_139182218	139151032	A A	AGAAAAGA others(29): Show AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	342	0.0029	36	c.-25 others(57): Show c.-251-11536_-251-11535insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTC	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELFN1_chr7_1665277_1752946	1719160	C C	CCCACCAA others(29): Show CCCACCAACAGGGCCCCGCCCACCAACAGGACCCAAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0289 a0001c0002t0004g0289	1	302	0.0033	36	c.-29 others(57): Show c.-294+10010_-294+10045dupACCCAAGCCACCAACAGGGCCCCG CCCACCAACAGG	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELFN1_chr7_1665277_1752946	1719268	G G	GCCACCAA others(29): Show GCCACCAACAGGGCCCCGCCCACCAACAGGGCCCCGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02145.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0065 a0001c0001t0012 a0001c0001t0065	a0001c0001t0012g0149 a0001c0001t0065g0295 a0001c0001t0012g0149 a0001c0001t0065g0295	2	302	0.0066	36	c.-29 others(57): Show c.-294+10028_-294+10063dupGCCCCGCCCACCAACAGGGCCCCG CCCACCAACAGG	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar

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