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
DENND6B_chr22_50304030_50332012	50312858	C C	CGGGGGGC others(103): Show CGGGGGGCCATGGGGCTGACCCTGGGGATTGACAGGCGGGGGGGCCATGG GGATGACCCTGGGGATTGACAGGCGGGGGGCCATGGGGCTGACCCTGGGG ATTGACAGGCG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0001 a0006c0021t0001	a0006c0021t0001g0278 a0006c0021t0001g0278	1	326	0.0031	110	c.145 others(127): Show c.1457+140_1457+141insCGCCTGTCAATCCCCAGGGTCAGCCCCA TGGCCCCCCGCCTGTCAATCCCCAGGGTCATCCCCATGGCCCCCCCGCCT GTCAATCCCCAGGGTCAGCCCCATGGCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312894	C C	CGGGGGGG others(103): Show CGGGGGGGCCATGGGGATGACCCTGGGGATTGACAGGCGGGGGGCCATGG GGCTGACCCTGGGGATTGACAGGCGGGGGGCCATGGGGCTGACCCTGGGG ATTGACAGGCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0303 a0002c0002t0016g0303	1	326	0.0031	110	c.145 others(127): Show c.1457+104_1457+105insCGCCTGTCAATCCCCAGGGTCAGCCCCA TGGCCCCCCGCCTGTCAATCCCCAGGGTCAGCCCCATGGCCCCCCGCCTG TCAATCCCCAGGGTCATCCCCATGGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DGKB_chr7_14140049_14907751	14211640	A A	ATTTACTC others(103): Show ATTTACTCCTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCA TGTTTTGTGAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0013 a0001c0002t0022g0013	1	148	0.0068	110	c.212 others(131): Show c.2123-33490_2123-33489insATCACAAAACATGAGAGTAAAATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAA CATGAGAGTAAAATCACAAAACATGAGAGGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212301	T T	TATTTACT others(103): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCAT GTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0015 a0001c0012t0003g0015	1	148	0.0068	110	c.212 others(131): Show c.2123-34151_2123-34150insTATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAA AACATGAGAGTAAAATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKI_chr7_137376037_137851974	137472320	T T	TATAATAT others(103): Show TATAATATGTATATACATATAATATTATATGTATATACATTAAATATTAT ATGTATATATATAATATTATATGTATATATACATATAATTATTATATGTA TATATACATAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02145.hp2 HG02257.hp1 others(10): Show HG00642.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02896.hp1 HG03195.hp1 HG03209.hp2 HG03654.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0021	a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 others(9): Show a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0014 a0001c0003t0004 a0001c0003t0005 a0001c0003t0035 a0001c0003t0037 a0001c0003t0046 a0001c0004t0003 a0001c0011t0001 a0001c0021t0002	a0001c0001t0016g0005 a0001c0002t0001g0018 a0001c0002t0003g0092 others(10): Show a0001c0001t0016g0005 a0001c0002t0001g0018 a0001c0002t0003g0092 a0001c0002t0014g0020 a0001c0002t0014g0035 a0001c0003t0004g0023 a0001c0003t0005g0091 a0001c0003t0035g0028 a0001c0003t0037g0036 a0001c0003t0046g0094 a0001c0004t0003g0076 a0001c0011t0001g0040 a0001c0021t0002g0059	13	94	0.1383	110	c.237 others(129): Show c.2374-2702_2374-2701insTTATGTATATATACATATAATAATTA TATGTATATATACATATAATATTATATATATACATATAATATTTAATGTA TATACATATAATATTATATGTATATACATATTAT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137472320	T T	TATTATAT others(103): Show TATTATATGTATATACATATAATATTATATGTATATACATTAAATATTAT ATGTATATATATAATATTATATGTATATATACATATAATTATTATATGTA TATATACATAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0022 a0001c0008t0022	a0001c0008t0022g0026 a0001c0008t0022g0026	1	94	0.0106	110	c.237 others(129): Show c.2374-2702_2374-2701insTTATGTATATATACATATAATAATTA TATGTATATATACATATAATATTATATATATACATATAATATTTAATGTA TATACATATAATATTATATGTATATACATATAAT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DIP2C_chr10_269201_694668	556189	A A	AGCACCCA others(103): Show AGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCA CCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGG ATCCCAGGACG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	88	0.0114	110	c.86- others(127): Show c.86-69660_86-69659insCGTCCTGGGATCCGGCTGTGGGAGGGGT GGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCT GGGATCCGGCTGTGGGAGGGGTGGGTGGGTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	619532	C C	CAGGGCCA others(103): Show CAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCA GGGCCAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAGG GCCAGGGCCAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	88	0.0114	110	c.85+ others(127): Show c.85+69961_85+69962insTTGGCCCTGGCCCTGGCCCTGGCCCTGG CCCTGGCCCTGGCCCTGGCCCTGGCCCTGGCCCTGGCCCTGGCCCTGGCC CTGGCCCTGGCCCTGGCCCTGGCCCTGGCCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522694	G G	GACCCAGC others(103): Show GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0015 a0015	a0015c0053 a0015c0053	a0015c0053t0007 a0015c0053t0007	a0015c0053t0007g0300 a0015c0053t0007g0300	1	358	0.0028	110	c.236 others(129): Show c.2363-1248_2363-1247insACCCAGCCAGAGCCCAGCCAGGACCC AGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DLGAP2_chr8_732628_1713476	1024472	G G	GAGGCAGA others(103): Show GAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCC GTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACA GTCCCGTGCCA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01071.hp1 HG01071.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0011 a0001c0003t0001 a0002c0001t0011	a0001c0003t0001g0025 a0002c0001t0011g0001 a0001c0003t0001g0025 a0002c0001t0011g0001	2	40	0.0500	110	c.73+ others(129): Show c.73+116507_73+116508insGGCAGACACCCCAGCCGCCACCCACC CTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCAC CCACCCTCCCTGGGGGTGGACAGTCCCGTGCCAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1024472	G G	GAGGCAGA others(103): Show GAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCC GTGCCGAGGCAGACACTCCAGCCGCCACCCACCCTCCCTGGGGGTGGACA GTCCCGTGCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	110	c.73+ others(129): Show c.73+116507_73+116508insGGCAGACACCCCAGCCGCCACCCACC CTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACTCCAGCCGCCAC CCACCCTCCCTGGGGGTGGACAGTCCCGTGCCAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123912143	G G	GGGGGGGT others(103): Show GGGGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG GGTCTAGTCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0007 a0013 a0007 a0013	a0007c0010 a0013c0014 a0007c0010 a0013c0014	a0007c0010t0001 a0013c0014t0001 a0007c0010t0001 a0013c0014t0001	a0007c0010t0001g0125 a0013c0014t0001g0037 a0007c0010t0001g0125 a0013c0014t0001g0037	2	170	0.0118	110	c.101 others(129): Show c.10135-942_10135-941insCGGGGGGGTCTGTCCTGGGGGGGGGT CTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTG TCCTGGGGGGGGTCTAGTCCTGGGGGGTCTGTCC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH14_chr1_224924675_225404286	225335810	T T	TACATGTA others(103): Show TACATGTACACACACATATGTACATACACATATGTACACACATGTACATA CACATATGTACACACATGTACATACACATATGTACACACATGTACATACA CATATGTACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03540.hp1 NA18522.hp1 HG01109.hp2 HG03540.hp1 NA18522.hp1	a0009 a0070 a0009 a0070	a0009c0035 a0070c0080 a0009c0035 a0070c0080	a0009c0035t0001 a0070c0080t0001 a0009c0035t0001 a0070c0080t0001	a0009c0035t0001g0214 a0009c0035t0001g0215 a0070c0080t0001g0218 a0009c0035t0001g0214 a0009c0035t0001g0215 a0070c0080t0001g0218	3	240	0.0125	110	c.100 others(131): Show c.10081-1455_10081-1454insCATGTACACACACATATGTACATA CACATATGTACACACATGTACATACACATATGTACACACATGTACATACA CATATGTACACACATGTACATACACATATGTACACA	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAI4_chr1_66807885_66929856	66892999	G G	AAGAGAGA others(103): Show AAGAGAGAGAGAGAGGAAAGAAAGAAAGAAAGAGAGGAAAGAAAGAAAGA AAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0128 a0001c0003t0001g0128	1	264	0.0038	110	c.530 others(125): Show c.530+230_530+231insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCCTCTCT TTCTTTCTTTCTTTCCTCTCTCTCTCTCTT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	3/16			chr1	TogoVar
DNAJB6_chr7_157332004_157422439	157369672	A A	AACATTAT others(103): Show AACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCC TTCTTCACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGG GCCCCTTCTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	372	0.0027	110	c.346 others(127): Show c.346+2264_346+2265insTTTCATAACGTTATTATTAAACGGGCCC CTTCTTCACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACG GGCCCCTTCTTCACATTATTATTAAACAGGCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369677	T T	TATTATTA others(103): Show TATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTT CACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGAGCCCC TTCTTAACATC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	372	0.0027	110	c.346 others(127): Show c.346+2264_346+2265insTTTCATAACGTTATTATTAAACGAGCCC CTTCTTAACATCATTATTAAACAGGCCTTTCATAACGTTATTATTAAACG GGCCCCTTCTTCACATTATTATTAAACAGGCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369677	T T	TATTATTA others(103): Show TATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTT CACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCC TTCTTAACATC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	372	0.0027	110	c.346 others(127): Show c.346+2264_346+2265insTTTCATAACGTTATTATTAAACGGGCCC CTTCTTAACATCATTATTAAACAGGCCTTTCATAACGTTATTATTAAACG GGCCCCTTCTTCACATTATTATTAAACAGGCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369839	C C	CGTTATTA others(103): Show CGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCTTT CATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGG CCTTTCATAAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18943.hp1 NA18965.hp2 others(3): Show HG04199.hp1 NA18943.hp1 NA18965.hp2 NA18992.hp2 NA19005.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0002g0265 others(3): Show a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0271 a0001c0001t0002g0278	6	372	0.0161	110	c.346 others(127): Show c.346+2381_346+2382insAACATTATTATTAAACAGGCCTTTCATA ACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTT TCATAATGTTATTATTAAACGGGCCCCTTCTT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369880	C C	CAGGCCTT others(103): Show CAGGCCTTTCATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTA TTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAACAT TATTATTAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(6): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG01069.hp2 HG01071.hp1 HG01261.hp1 HG02004.hp2 HG02109.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0063 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0371 a0001c0001t0002g0071 a0001c0001t0002g0089 a0001c0001t0003g0372 a0001c0001t0008g0070 a0001c0001t0008g0088	9	372	0.0242	110	c.346 others(127): Show c.346+2402_346+2403insTTTCATAACATTATTATTAAACGAGCCC CTTCTTAACATCATTATTAAACAGGCCTTTCATAACGTTATTATTAAACG GGCCCCTTCTTAACATTATTATTAAAGAGGCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOC2B_chr17_137789_186650	139479	C C	CACAGAGG others(103): Show CACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAGGG GCACACAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACA CAGACCCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18980.hp1 NA18952.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0058 a0001c0001t0002 a0001c0001t0058	a0001c0001t0002g0005 a0001c0001t0058g0033 a0001c0001t0002g0005 a0001c0001t0058g0033	2	339	0.0059	110	c.79 others(121): Show c.7961_*7962insATGTGGGTCTGTGTGTGTGGCTGTGGCCCTGAGT GTGTTCCTGATGTCCCCATTTGTGTGCCCCTCTGTGGGGACTTTCGCACG TGTGCTCCTTGAGTGGGATCCTCTGT	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		3309		chr17	TogoVar
DOCK5_chr8_25179689_25420711	25216769	A A	ATGTATAC others(103): Show ATGTATACAATATGTGTATACAATATGTATATATGTATACAATATGTGTA TACAATATGTGTATACAATATGTGTATACAATATGTGTATACAATATGTG TATACAATATG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0106 a0002c0023t0001g0106	1	210	0.0048	110	c.44- others(127): Show c.44-26875_44-26874insTATGTATACAATATGTGTATACAATATG TGTATACAATATGTGTATACAATATGTGTATACAATATGTGTATACAATA TGTGTATACAATATGTGTATACAATATGTATA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPEP1_chr16_89608642_89643433	89619557	T T	TCCCCTCC others(103): Show TCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTG CCCCCCTGCTCCCCTGTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	250	0.0040	110	c.-10 others(129): Show c.-107+5842_-107+5843insTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTGTCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634769	T T	TCCCTTCC others(103): Show TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG03098.hp2 HG02809.hp2 HG02818.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0040 a0001c0001t0001g0042 a0002c0002t0001g0133 a0001c0001t0001g0040 a0001c0001t0001g0042 a0002c0002t0001g0133	3	250	0.0120	110	c.105 others(127): Show c.105-1104_105-1103insTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH7_chr9_137549444_137583925	137567969	G G	GTGAGGAA others(103): Show GTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGT GACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	340	0.0029	110	c.641 others(127): Show c.641-2816_641-2815insGTCACCCAGGGGAGCTTCCTCACAGACA GAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCT CACAGACAGAGTCACCCAGGGGAGCTTCCTCA	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPYSL2_chr8_26509031_26663175	26556114	A A	AGTATATA others(103): Show AGTATATATATACTATATATAGTATATACTATATATATTATATATACTAT ATATATAGTATATATATATTATATATACTATATATACTATATATATACTA TATATATAGTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0063 a0001c0004t0007g0063	1	316	0.0032	110	c.355 others(129): Show c.355-25855_355-25854insGTATATATATACTATATATAGTATAT ACTATATATATTATATATACTATATATATAGTATATATATATTATATATA CTATATATACTATATATATACTATATATATAGTG	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL4_chr10_132181948_132210759	132191549	A A	ATGGTATC others(103): Show ATGGTATCCAGGCAGGTGAAAGTATGTTCCCAGCTCGTGTGTACATGCTG GTCACGTGGTATCCAGGCAGGTGAAAGTATGTTCCCAGCTCGTGTGTACA CGCTGGTCACG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03195.hp1 HG02723.hp2 HG03195.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0015 a0001c0012t0015	a0001c0012t0015g0068 a0001c0012t0015g0184 a0001c0012t0015g0068 a0001c0012t0015g0184	2	418	0.0048	110	c.128 others(125): Show c.128+730_128+731insGAAAGTATGTTCCCAGCTCGTGTGTACATG CTGGTCACGTGGTATCCAGGCAGGTGAAAGTATGTTCCCAGCTCGTGTGT ACACGCTGGTCACGTGGTATCCAGGCAGGT	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DRC1_chr2_26396920_26461711	26418560	A A	ATATATAA others(103): Show ATATATAATATATATTATATAATATATATATATAATTATATAATTATATA TATATATATATATATATAATTATATAATATAATATATATTATATATAAAT TATATATAATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0251 a0001c0007t0001g0251	1	384	0.0026	110	c.244 others(127): Show c.244-2708_244-2707insATATATATATATAATTATATAATTATAT ATATATATATATATATATAATTATATAATATAATATATATTATATATAAA TTATATATAATTTATATAATATATATTATATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26418560	A A	ATATATAA others(103): Show ATATATAATATATATTATATAATATATATATATATAATTATATAATTATA TATATATATATATATATAATTATATAATATAATATATATTATATATAAAT TATATATAATT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0092 a0001c0007t0001g0092	1	384	0.0026	110	c.244 others(127): Show c.244-2708_244-2707insATATATATATATATAATTATATAATTAT ATATATATATATATATATAATTATATAATATAATATATATTATATATAAA TTATATATAATTTATATAATATATATTATATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC3_chr17_17967862_18021889	18007150	A A	AGGCGGGG others(103): Show AGGCGGGGCGGGCGGAGCATGTCGGGGAAGGGCTGGATGGAGTTGGACTG GGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGGGGCGGGGGGAGCTGGGA GGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0106 a0004c0004t0002g0106	1	324	0.0031	110	c.132 others(125): Show c.1326+15_1326+16insGGAGCATGTCGGGGAAGGGCTGGATGGAGT TGGACTGGGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGGGGCGGGGGGA GCTGGGAGGGAGGGGAGGGGCGGGGCGGGC	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRC3_chr17_17967862_18021889	18007150	A A	AGGCGGGG others(103): Show AGGCGGGGCGGGCGGAGCATGTCGGGGAAGGGCTGGATGGAGTTGGACTG GGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGGGGGGGGGGGAGCTGGGA GGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(83): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01516.hp1 HG01516.hp2 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02145.hp2 HG02165.hp2 HG02273.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp2 NA18906.hp2 NA18942.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18973.hp2 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19009.hp1 NA19011.hp2 NA19065.hp2 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0016 a0002c0002 others(4): Show a0001c0001 a0001c0016 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0001c0016t0001 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0016t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0012 a0003c0003t0006 a0003c0003t0007 a0004c0004t0002 a0005c0005t0001 a0006c0006t0001	a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0159 others(81): Show a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0301 a0001c0001t0003g0017 a0001c0001t0003g0166 a0001c0001t0003g0189 a0001c0001t0003g0248 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0003g0267 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0281 a0001c0001t0003g0290 a0001c0016t0001g0252 a0002c0002t0002g0007 a0002c0002t0002g0042 a0002c0002t0002g0046 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0056 a0002c0002t0002g0062 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0002g0103 a0002c0002t0002g0108 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0126 a0002c0002t0002g0134 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0004g0031 a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0037 a0002c0002t0004g0038 a0002c0002t0005g0028 a0002c0002t0005g0030 a0002c0002t0006g0117 a0002c0002t0012g0077 a0003c0003t0006g0131 a0003c0003t0007g0125 a0004c0004t0002g0102 a0004c0004t0002g0104 a0004c0004t0002g0105 a0005c0005t0001g0303 a0006c0006t0001g0143 a0006c0006t0001g0238	86	324	0.2654	110	c.132 others(125): Show c.1326+15_1326+16insGGAGCATGTCGGGGAAGGGCTGGATGGAGT TGGACTGGGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGGGGGGGGGGGA GCTGGGAGGGAGGGGAGGGGCGGGGCGGGC	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRC3_chr17_17967862_18021889	18007150	A A	AGGCGGGG others(103): Show AGGCGGGGCGGGCGGAGCATGTCGGGGAAGGGCTGGATGGAGTTGGACTG GGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGTGGGGGGGGGAGCTGGGA GGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	324	0.0031	110	c.132 others(125): Show c.1326+15_1326+16insGGAGCATGTCGGGGAAGGGCTGGATGGAGT TGGACTGGGTGGGGAAGGGGCGGAGATGGGGCGGGGCGGTGGGGGGGGGA GCTGGGAGGGAGGGGAGGGGCGGGGCGGGC	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP8_chr11_1549051_1577271	1554280	C C	CAGGCAGT others(103): Show CAGGCAGTGGCCAGGTGGGAGGGGCCGGAGAGAGGCTTGGAGAGGACTCA GGGCTGGGTCAGGTGAAAGCCACCAGGTGGGGCCCTGGCCCGCCTCCCGC AGCACTGGAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0037 a0001c0024t0037	a0001c0024t0037g0122 a0001c0024t0037g0122	1	367	0.0027	110	c.21 others(121): Show c.2128_*2237dupCCTCCAGTGCTGCGGGAGGCGGGCCAGGGCCCCA CCTGGTGGCTTTCACCTGACCCAGCCCTGAGTCCTCTCCAAGCCTCTCTC CGGCCCCTCCCACCTGGCCACTGCCT	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding	7/7	2237		chr11	TogoVar
DYNC2I1_chr7_158851558_158951189	158877196	C C	CGCGGTGC others(103): Show CGCGGTGCGGGTGTGTTGGTGCTCTCGAGGCACCTGCGGTTCCGGATTGG TGTTTTGCGGTGCGGGTGTGTTGGTGCTCTCCAGGCACCTGCGGTTCCGG ATTGGTGTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	274	0.0037	110	c.573 others(125): Show c.573+558_573+559insTTGCGGTGCGGGTGTGTTGGTGCTCTCCAG GCACCTGCGGTTCCGGATTGGTGTTTTGCGGTGCGGGTGTGTTGGTGCTC TCGAGGCACCTGCGGTTCCGGATTGGTGTT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFNA5_chr5_107371894_107675937	107476047	T T	TATATATA others(103): Show TATATATATATGTATACATATATATATATGTATGTATATATATATATATA TACATATATATATGTATATATATATATACATATATATATGTATATATATA TATATGTATAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0009 a0001c0001t0049g0009	1	190	0.0053	110	c.126 others(129): Show c.126-48539_126-48538insGTATACATATATATATATATACATAT ATATATGTATATATATATATACATATATATATGTATATATATATATATAT ACATACATATATATATATGTATACATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107476047	T T	TATATATA others(103): Show TATATATATATGTATACATATATATATATGTATGTATATATATATATATA TACATATATATGTATATATATATATACATATATATATGTATATATATATA TATATGTATAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01496.hp2 HG02055.hp2 others(7): Show HG01255.hp2 HG01496.hp2 HG02055.hp2 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 others(5): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0038 a0001c0001t0039 a0001c0001t0051 a0001c0001t0075	a0001c0001t0012g0061 a0001c0001t0014g0103 a0001c0001t0020g0060 others(7): Show a0001c0001t0012g0061 a0001c0001t0014g0103 a0001c0001t0020g0060 a0001c0001t0020g0149 a0001c0001t0022g0059 a0001c0001t0022g0114 a0001c0001t0038g0024 a0001c0001t0039g0006 a0001c0001t0051g0025 a0001c0001t0075g0168	10	190	0.0526	110	c.126 others(129): Show c.126-48539_126-48538insGTATACATATATATATATATATACAT ATATATATGTATATATATATATACATATATATGTATATATATATATATAT ACATACATATATATATATGTATACATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107476047	T T	TATATATA others(103): Show TATATATATATGTATACATATATATATATGTATGTATATATATATATATA TATACATATATATGTATATATATATATACATATATATATGTATATATATA TATATGTATAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0086 a0001c0001t0047g0086	1	190	0.0053	110	c.126 others(129): Show c.126-48539_126-48538insGTATACATATATATATATATACATAT ATATATGTATATATATATATACATATATATGTATATATATATATATATAT ACATACATATATATATATGTATACATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3A_chr8_131899093_132018642	132014114	T T	TCGCCATG others(103): Show TCGCCATGGTGACGGAATTAGGGGTCTCCTGCTCTTCGTCCTAAGGACCA CTGTCTGTGCTGTGTCTTTCAAAGGTCAGAAGAGATTGAACCTTTGTGTT TTTATTTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02132.hp1 NA18945.hp1 others(5): Show HG00438.hp2 HG02132.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18956.hp1 NA18978.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129	8	412	0.0194	110	c.32 others(121): Show c.3219_*3220insCGCCATGGTGACGGAATTAGGGGTCTCCTGCTCT TCGTCCTAAGGACCACTGTCTGTGCTGTGTCTTTCAAAGGTCAGAAGAGA TTGAACCTTTGTGTTTTTATTTTCCC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		473		chr8	TogoVar
EHD4_chr15_41890933_41977557	41895595	A A	ATGGAGTC others(103): Show ATGGAGTCCTGTGTGATGTTGTGAGCGTGGGAGGACAGACTGAACTGCTC GGCCCGTGGAGTCCTGTGTGATGTTGTGAGCGTGGGAGGACAGACTGAAC TGCTCGGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	1	360	0.0028	110	c.50 others(121): Show c.5049_*5050insCGGGCCGAGCAGTTCAGTCTGTCCTCCCACGCTC ACAACATCACACAGGACTCCACGGGCCGAGCAGTTCAGTCTGTCCTCCCA CGCTCACAACATCACACAGGACTCCA	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding		337		chr15	TogoVar
EHMT1_chr9_137614005_137841127	137697929	T T	TGTGAGGG others(103): Show TGTGAGGGCAGCGTGTGAGGGCGGCGTGGCTCGCGGAGGCCTCACTCCCC ACTGTTGTGAGGGCAGCGTGTGAGGGCGGTGTGGCTCGCGGAGGCCTCAA TCCCCACTGTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02886.hp2 HG01257.hp2 HG01258.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0025 a0001c0002 a0001c0025	a0001c0002t0001 a0001c0025t0001 a0001c0002t0001 a0001c0025t0001	a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0025t0001g0051 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0025t0001g0051	3	170	0.0177	110	c.22- others(127): Show c.22-12989_22-12880dupCACTGTTGTGAGGGCAGCGTGTGAGGGC GGTGTGGCTCGCGGAGGCCTCAATCCCCACTGTCGTGAGGGCAGCGTGTG AGGGCGGCGTGGCTCGCGGAGGCCTCACTCCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2B3_chr1_44845522_44991595	44942377	T T	TTATATAT others(103): Show TTATATATATATATATGTGTGTATATATATATGTATATATATATATATAC ATATATATATACACACATATATATATACACATATATATACATATATATAT ATATATATACA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	322	0.0031	110	c.295 others(125): Show c.295-713_295-712insTGTATATATATATATATATATGTATATATA TGTGTATATATATATGTGTGTATATATATATGTATATATATATATATACA TATATATATACACACATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942377	T T	TTATATAT others(103): Show TTATATATATATATATGTGTGTATATATATATGTATATATATATATATAC ATATATATATACACATATATATATACACATATATATACATATATATATAT ATATACATATA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	322	0.0031	110	c.295 others(125): Show c.295-713_295-712insTATATGTATATATATATATATATGTATATA TATGTGTATATATATATGTGTATATATATATGTATATATATATATATACA TATATATATACACACATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942377	T T	TTATATAT others(103): Show TTATATATATATATATGTGTGTATATATATATGTATATATATATATATAC ATATATATATACACATATATATATACACATATATATACATATATATATAT ATATATACATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18983.hp1 NA18992.hp2 others(1): Show HG01081.hp2 NA18983.hp1 NA18992.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0288 others(1): Show a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0288 a0001c0001t0001g0322	4	322	0.0124	110	c.295 others(125): Show c.295-713_295-712insTATGTATATATATATATATATATGTATATA TATGTGTATATATATATGTGTATATATATATGTATATATATATATATACA TATATATATACACACATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942382	T T	TATATATA others(103): Show TATATATATATGTGTGTATATATATATGTATATATATATATATACATATA TATATACACATATATATATATACATATATATACATATATATACATATATA TATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	322	0.0031	110	c.295 others(125): Show c.295-718_295-717insGTATATATATATATATATGTATATATATGT ATATATATGTATATATATATATGTGTATATATATATGTATATATATATAT ATACATATATATATACACACATATATATAT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942390	T T	TATGTGTG others(103): Show TATGTGTGTATATATATATGTATATATATATATATACATATATATATACA CATATATATATACACATATATATACATATATATATATATATACATATATA TATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	322	0.0031	110	c.295 others(125): Show c.295-726_295-725insGTATATATATATATATATGTATATATATAT ATATATGTATATATATGTGTATATATATATGTGTATATATATATGTATAT ATATATATATACATATATATATACACACAT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942391	A A	ATGTGTGT others(103): Show ATGTGTGTATATATATATGTATATATATATATATACATATATATATACAC ATATATATATACACATATATATACATATATATATATATATACATATATAT ATATATATATG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	322	0.0031	110	c.295 others(125): Show c.295-727_295-726insCATATATATATATATATATGTATATATATA TATATATGTATATATATGTGTATATATATATGTGTATATATATATGTATA TATATATATATACATATATATATACACACA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3315669	A A	ATCACCAC others(103): Show ATCACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCC CCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCC CACCACCATCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	250	0.0040	110	c.259 others(129): Show c.259+22347_259+22348insGGATGGTGGTGGGGCTGTGGATGGGG ATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315851	A A	ATCACCAC others(103): Show ATCACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCC CCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCC CACCACCATCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG01109.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0065 a0001c0001t0002g0044 a0001c0001t0001g0065 a0001c0001t0002g0044	2	250	0.0080	110	c.259 others(129): Show c.259+22165_259+22166insGGATGGTGGTGGGGCTGTGGATGGGG ATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACAGCC others(103): Show CCACAGCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCACC ACCATCCTCACCACCATCCCCATACACACCCCCTACCACCACCATCACCA CCATCCCCATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	250	0.0040	110	c.259 others(129): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTGTAT GGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAPOR1_chr1_109109115_109211781	109113390	C C	CAGAGAGA others(103): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGACCCTGTCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0013 a0002c0029t0013	a0002c0029t0013g0095 a0002c0029t0013g0095	1	230	0.0044	110	c.-79 others(119): Show c.-794_-793insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGACCCTGTCAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		724		chr1	TogoVar
ELL2_chr5_95880098_95966851	95927376	C C	CACATATG others(103): Show CACATATGTGTATATATAGACATATATACACATATGTGTATATATAGACA TATATACACATATGTGTATATATAGACATATATACACATATGTGTATATA TAGACATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0054 a0002c0002t0009g0054	1	314	0.0032	110	c.196 others(127): Show c.196-7832_196-7831insATATATGTCTATATATACACATATGTGT ATATATGTCTATATATACACATATGTGTATATATGTCTATATATACACAT ATGTGTATATATGTCTATATATACACATATGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar

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