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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Select column to sort.

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DUSP16_chr12_12468282_12567863	12547424	TCAAAACA others(2): Show TCAAAACAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02109.hp1 others(6): Show HG01167.hp1 HG01169.hp2 HG02109.hp1 HG02630.hp1 HG02809.hp2 HG02976.hp2 HG03130.hp2 HG03471.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 others(6): Show a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0014t0001g0258	9	352	0.0256	-9	c.-36 others(30): Show c.-366+14684_-366+14692delTTTGTTTTG		DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6						chr12	TogoVar
DUSP18_chr22_30656445_30672875	30657906	AAATAATA others(2): Show AAATAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01243.hp1 others(26): Show HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG02055.hp1 HG02451.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03579.hp2 HG03688.hp2 HG04115.hp2 NA18950.hp1 NA18959.hp1 NA18989.hp2 NA19002.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0021 a0001c0001t0030 a0001c0001t0036 a0001c0001t0045 a0001c0001t0059 a0001c0001t0071 a0001c0001t0074	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0004 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0004 a0001c0001t0004g0009 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0186 a0001c0001t0006g0030 a0001c0001t0006g0065 a0001c0001t0015g0023 a0001c0001t0015g0093 a0001c0001t0021g0056 a0001c0001t0021g0187 a0001c0001t0030g0106 a0001c0001t0036g0055 a0001c0001t0045g0148 a0001c0001t0059g0078 a0001c0001t0071g0168 a0001c0001t0074g0171	29	448	0.0647	-9	c.55 others(20): Show c.5522_*5530delATTATTATT		DUSP18	ENSG00000167065.14	transcript	ENST00000334679.4	protein_coding					3538		chr22	TogoVar
DUSP28_chr2_240555357_240570256	240568861	GCGCCCCC others(2): Show GCGCCCCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG03579.hp2 HG02572.hp1 HG02723.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0002 a0001c0003t0018g0002	3	422	0.0071	-9	c.73 others(20): Show c.7395_*7403delCGCCCCCGC		DUSP28	ENSG00000188542.10	transcript	ENST00000405954.2	protein_coding					3606		chr2	TogoVar
DUSP6_chr12_89342235_89357501	89348043	GTTTTTAA others(2): Show GTTTTTAAAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG00741.hp2 others(18): Show HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01258.hp2 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02148.hp2 HG03225.hp1 HG03927.hp1 HG03942.hp2 HG04228.hp1 NA19089.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0027 a0003c0003t0003g0029 a0003c0003t0003g0003 a0003c0003t0003g0027 a0003c0003t0003g0029	21	402	0.0522	-9	c.12 others(20): Show c.1202_*1210delTTTTAAAAA		DUSP6	ENSG00000139318.8	transcript	ENST00000279488.8	protein_coding	3/3				1202		chr12	TogoVar
DVL3_chr3_184150377_184178614	184153014	CAAAAAAA others(2): Show CAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00558.hp2 others(43): Show HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00673.hp2 HG01070.hp1 HG01109.hp1 HG01257.hp2 HG01258.hp1 HG02056.hp1 HG02071.hp1 HG02155.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG03927.hp2 HG04115.hp1 NA18941.hp2 NA18942.hp2 NA18949.hp2 NA18950.hp1 NA18969.hp1 NA18970.hp1 NA18990.hp1 NA19003.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19081.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0028 a0001c0007t0004 a0002c0002t0010	a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0031 others(22): Show a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0050 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0124 a0001c0001t0003g0008 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0069 a0001c0001t0003g0078 a0001c0001t0004g0005 a0001c0001t0004g0103 a0001c0001t0008g0013 a0001c0001t0008g0047 a0001c0001t0011g0027 a0001c0001t0012g0109 a0001c0001t0012g0110 a0001c0001t0013g0008 a0001c0001t0016g0105 a0001c0001t0028g0070 a0001c0007t0004g0040 a0002c0002t0010g0003	46	400	0.1150	-9	c.-26 others(20): Show c.-2621_-2613delAAAAAAAAA		DVL3	ENSG00000161202.20	transcript	ENST00000313143.9	protein_coding					2362		chr3	TogoVar
DYM_chr18_49031387_49465645	49232603	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02647.hp1 others(7): Show HG02257.hp1 HG02559.hp1 HG02647.hp1 HG02723.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03195.hp2 HG03486.hp1 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0007 a0001c0001t0037 a0001c0001t0038 others(1): Show a0001c0001t0007 a0001c0001t0037 a0001c0001t0038 a0006c0005t0039	a0001c0001t0007g0002 a0001c0001t0007g0105 a0001c0001t0007g0106 others(7): Show a0001c0001t0007g0002 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0111 a0001c0001t0007g0120 a0001c0001t0037g0112 a0001c0001t0038g0109 a0006c0005t0039g0110	10	290	0.0345	-9	c.146 others(30): Show c.1461-22897_1461-22889delAAAAAAAAA		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49317592	TCTCTCCC others(2): Show TCTCTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19004.hp2 NA19079.hp2 HG03139.hp2 NA19004.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0146 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0001g0146 a0001c0001t0003g0088 a0001c0001t0003g0089	3	290	0.0103	-9	c.763 others(28): Show c.763+14263_763+14271delGGGGGAGAG		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17						chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	101961732	TTTATTAT others(2): Show TTTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(84): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01943.hp2 HG01993.hp1 HG02027.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18965.hp2 NA18968.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19011.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19066.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp2 NA20300.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0009 a0001c0010 others(6): Show a0001c0001 a0001c0009 a0001c0010 a0001c0011 a0001c0016 a0001c0017 a0001c0018 a0001c0033 a0010c0035	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0038 a0001c0001t0042 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0009t0005 a0001c0010t0010 a0001c0010t0060 a0001c0011t0005 a0001c0011t0041 a0001c0016t0003 a0001c0017t0003 a0001c0018t0005 a0001c0018t0039 a0001c0033t0001 a0010c0035t0002	a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 others(84): Show a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0275 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0013g0172 a0001c0001t0013g0173 a0001c0001t0013g0181 a0001c0001t0013g0207 a0001c0001t0018g0176 a0001c0001t0018g0187 a0001c0001t0018g0189 a0001c0001t0022g0191 a0001c0001t0023g0167 a0001c0001t0023g0175 a0001c0001t0026g0209 a0001c0001t0038g0198 a0001c0001t0042g0204 a0001c0001t0044g0221 a0001c0001t0048g0179 a0001c0001t0049g0168 a0001c0001t0051g0205 a0001c0009t0005g0003 a0001c0009t0005g0004 a0001c0009t0005g0005 a0001c0009t0005g0006 a0001c0009t0005g0008 a0001c0009t0005g0015 a0001c0010t0010g0165 a0001c0010t0060g0164 a0001c0011t0005g0010 a0001c0011t0005g0011 a0001c0011t0005g0012 a0001c0011t0005g0013 a0001c0011t0041g0014 a0001c0016t0003g0224 a0001c0016t0003g0226 a0001c0017t0003g0225 a0001c0017t0003g0231 a0001c0018t0005g0235 a0001c0018t0039g0234 a0001c0033t0001g0195 a0010c0035t0002g0227	87	280	0.3107	-9	c.-29 others(20): Show c.-2959_-2951delTTATTATTA		DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding					2840		chr14	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537928	TATATATA others(2): Show TATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01515.hp2 HG01517.hp1 others(2): Show HG01243.hp2 HG01515.hp2 HG01517.hp1 HG02622.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013	a0001c0001t0002g0257 a0001c0001t0012g0252 a0001c0001t0012g0255 others(2): Show a0001c0001t0002g0257 a0001c0001t0012g0252 a0001c0001t0012g0255 a0001c0001t0013g0028 a0001c0001t0013g0029	5	336	0.0149	-9	c.739 others(24): Show c.739-833_739-825delTATATATAT		DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12						chr3	TogoVar
DYNC2H1_chr11_103104426_103484863	103219216	CAAAAAGA others(2): Show CAAAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01070.hp1 others(9): Show HG00639.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01433.hp1 HG01496.hp1 HG03927.hp1 NA18612.hp2 NA18939.hp1 NA18984.hp2 NA19088.hp2 NA20805.hp2	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0014	a0001c0001 a0005c0011 a0009c0021 others(1): Show a0001c0001 a0005c0011 a0009c0021 a0014c0033	a0001c0001t0001 a0005c0011t0001 a0009c0021t0001 others(1): Show a0001c0001t0001 a0005c0011t0001 a0009c0021t0001 a0014c0033t0001	a0001c0001t0001g0183 a0005c0011t0001g0228 a0005c0011t0001g0229 others(9): Show a0001c0001t0001g0183 a0005c0011t0001g0228 a0005c0011t0001g0229 a0005c0011t0001g0232 a0005c0011t0001g0233 a0005c0011t0001g0234 a0005c0011t0001g0235 a0009c0021t0001g0243 a0009c0021t0001g0244 a0009c0021t0001g0245 a0014c0033t0001g0230 a0014c0033t0001g0231	12	262	0.0458	-9	c.883 others(26): Show c.8833-694_8833-686delAGAAAAAAA		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	55/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103312559	AAAAAAAA others(2): Show AAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00621.hp1 others(29): Show HG00140.hp2 HG00544.hp1 HG00621.hp1 HG00738.hp2 HG00741.hp2 HG01361.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02148.hp2 HG02572.hp2 HG02683.hp1 HG02698.hp2 HG03130.hp1 HG03490.hp2 NA18612.hp1 NA18942.hp1 NA18946.hp2 NA18952.hp2 NA18955.hp2 NA18975.hp1 NA18988.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19007.hp2 NA19012.hp1 NA19060.hp1 NA19065.hp1 NA19068.hp2 NA19081.hp1 NA20129.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0020 a0032 a0034	a0001c0001 a0001c0006 a0001c0008 others(7): Show a0001c0001 a0001c0006 a0001c0008 a0001c0051 a0001c0057 a0002c0003 a0007c0013 a0020c0037 a0032c0054 a0034c0059	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0008t0001 a0001c0051t0001 a0001c0057t0001 a0002c0003t0001 a0007c0013t0001 a0020c0037t0005 a0032c0054t0001 a0034c0059t0001	a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0132 others(29): Show a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0004g0150 a0001c0001t0004g0153 a0001c0006t0001g0048 a0001c0008t0001g0186 a0001c0008t0001g0187 a0001c0008t0001g0189 a0001c0051t0001g0066 a0001c0057t0001g0249 a0002c0003t0001g0014 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0247 a0007c0013t0001g0078 a0007c0013t0001g0082 a0007c0013t0001g0093 a0020c0037t0005g0030 a0032c0054t0001g0117 a0034c0059t0001g0027	32	262	0.1221	-9	c.116 others(28): Show c.11649+529_11649+537delAAAAACCAA		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	79/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103460316	ATTTTTTA others(2): Show ATTTTTTAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00621.hp2 others(107): Show HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03669.hp2 HG03704.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18952.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19057.hp2 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0013 a0015 a0016 a0018 a0020 a0023 a0024 a0027 a0033 a0035 a0036 a0037	a0001c0001 a0001c0005 a0001c0006 others(32): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0025 a0001c0029 a0001c0036 a0001c0052 a0002c0009 a0002c0016 a0002c0017 a0002c0026 a0002c0027 a0003c0002 a0003c0018 a0003c0034 a0004c0004 a0006c0012 a0007c0013 a0008c0020 a0008c0048 a0010c0014 a0013c0019 a0015c0031 a0016c0047 a0018c0030 a0020c0037 a0023c0038 a0024c0039 a0027c0058 a0033c0049 a0035c0060 a0036c0062 a0037c0061	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(34): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0010t0001 a0001c0025t0001 a0001c0029t0001 a0001c0036t0001 a0001c0052t0001 a0002c0009t0001 a0002c0016t0001 a0002c0017t0001 a0002c0026t0001 a0002c0027t0001 a0003c0002t0001 a0003c0002t0006 a0003c0018t0001 a0003c0034t0001 a0004c0004t0001 a0006c0012t0001 a0007c0013t0001 a0008c0020t0001 a0008c0020t0003 a0008c0048t0001 a0010c0014t0001 a0013c0019t0001 a0015c0031t0001 a0016c0047t0001 a0018c0030t0001 a0020c0037t0005 a0023c0038t0001 a0024c0039t0001 a0027c0058t0003 a0033c0049t0001 a0035c0060t0001 a0036c0062t0001 a0037c0061t0001	a0001c0001t0001g0108 a0001c0001t0001g0196 a0001c0001t0001g0237 others(107): Show a0001c0001t0001g0108 a0001c0001t0001g0196 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0005t0001g0113 a0001c0005t0001g0135 a0001c0005t0001g0136 a0001c0005t0001g0137 a0001c0005t0001g0138 a0001c0005t0001g0140 a0001c0005t0001g0145 a0001c0005t0001g0166 a0001c0005t0001g0191 a0001c0005t0001g0201 a0001c0006t0001g0048 a0001c0006t0001g0053 a0001c0006t0001g0064 a0001c0008t0001g0104 a0001c0008t0001g0174 a0001c0008t0001g0177 a0001c0008t0001g0178 a0001c0008t0001g0186 a0001c0008t0001g0187 a0001c0008t0001g0188 a0001c0008t0001g0189 a0001c0008t0001g0192 a0001c0010t0001g0180 a0001c0025t0001g0050 a0001c0025t0001g0062 a0001c0029t0001g0098 a0001c0029t0001g0099 a0001c0036t0001g0161 a0001c0052t0001g0133 a0002c0009t0001g0251 a0002c0009t0001g0252 a0002c0009t0001g0254 a0002c0009t0001g0259 a0002c0009t0001g0260 a0002c0009t0001g0261 a0002c0009t0001g0262 a0002c0016t0001g0257 a0002c0017t0001g0021 a0002c0017t0001g0022 a0002c0026t0001g0250 a0002c0026t0001g0258 a0002c0027t0001g0222 a0002c0027t0001g0223 a0003c0002t0001g0012 a0003c0002t0001g0118 a0003c0002t0001g0119 a0003c0002t0001g0131 a0003c0002t0001g0141 a0003c0002t0001g0143 a0003c0002t0001g0147 a0003c0002t0001g0148 a0003c0002t0001g0149 a0003c0002t0001g0152 a0003c0002t0001g0167 a0003c0002t0001g0197 a0003c0002t0001g0199 a0003c0002t0001g0200 a0003c0002t0006g0146 a0003c0018t0001g0175 a0003c0018t0001g0176 a0003c0018t0001g0184 a0003c0034t0001g0041 a0003c0034t0001g0045 a0004c0004t0001g0069 a0004c0004t0001g0072 a0004c0004t0001g0075 a0004c0004t0001g0076 a0004c0004t0001g0077 a0004c0004t0001g0083 a0004c0004t0001g0087 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0006c0012t0001g0206 a0006c0012t0001g0209 a0006c0012t0001g0210 a0006c0012t0001g0211 a0006c0012t0001g0216 a0007c0013t0001g0078 a0007c0013t0001g0093 a0008c0020t0001g0248 a0008c0020t0003g0169 a0008c0048t0001g0246 a0010c0014t0001g0212 a0010c0014t0001g0213 a0010c0014t0001g0215 a0013c0019t0001g0033 a0013c0019t0001g0034 a0013c0019t0001g0035 a0015c0031t0001g0029 a0015c0031t0001g0074 a0016c0047t0001g0253 a0018c0030t0001g0102 a0018c0030t0001g0103 a0020c0037t0005g0030 a0023c0038t0001g0207 a0024c0039t0001g0214 a0027c0058t0003g0168 a0033c0049t0001g0241 a0035c0060t0001g0224 a0036c0062t0001g0079 a0037c0061t0001g0080	110	262	0.4199	-9	c.126 others(30): Show c.12648+3963_12648+3971delTTTTAATTT		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	87/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103483022	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00738.hp2 others(46): Show HG00140.hp1 HG00423.hp2 HG00738.hp2 HG01071.hp2 HG01081.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG02040.hp1 HG02132.hp2 HG02148.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp2 HG03704.hp2 HG04184.hp1 NA18945.hp1 NA18951.hp2 NA18954.hp2 NA18960.hp1 NA18966.hp2 NA18975.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18999.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19057.hp1 NA19060.hp2 NA19068.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0008 a0016 a0019 a0021 a0030	a0001c0001 a0001c0005 a0001c0006 others(13): Show a0001c0001 a0001c0005 a0001c0006 a0001c0041 a0002c0003 a0002c0007 a0002c0032 a0003c0002 a0003c0023 a0004c0004 a0007c0013 a0008c0020 a0016c0064 a0019c0024 a0021c0063 a0030c0067	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(13): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0041t0001 a0002c0003t0001 a0002c0007t0001 a0002c0032t0001 a0003c0002t0001 a0003c0023t0001 a0004c0004t0001 a0007c0013t0001 a0008c0020t0003 a0016c0064t0001 a0019c0024t0001 a0021c0063t0001 a0030c0067t0001	a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0124 others(46): Show a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0238 a0001c0005t0001g0158 a0001c0005t0001g0159 a0001c0006t0001g0051 a0001c0006t0001g0052 a0001c0006t0001g0054 a0001c0006t0001g0055 a0001c0006t0001g0056 a0001c0006t0001g0057 a0001c0006t0001g0058 a0001c0006t0001g0059 a0001c0006t0001g0060 a0001c0006t0001g0061 a0001c0041t0001g0115 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0007t0001g0010 a0002c0007t0001g0071 a0002c0032t0001g0031 a0003c0002t0001g0067 a0003c0002t0001g0112 a0003c0002t0001g0155 a0003c0002t0001g0156 a0003c0002t0001g0160 a0003c0023t0001g0116 a0003c0023t0001g0162 a0003c0023t0001g0164 a0004c0004t0001g0081 a0004c0004t0001g0084 a0007c0013t0001g0073 a0007c0013t0001g0089 a0008c0020t0003g0170 a0016c0064t0001g0042 a0019c0024t0001g0218 a0019c0024t0001g0220 a0021c0063t0001g0097 a0030c0067t0001g0163	49	262	0.1870	-9	c.37 others(20): Show c.3770_*3778delAAAAAAAAA		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding					3160		chr11	TogoVar
DYNC2I1_chr7_158851558_158951189	158949639	TGCAGGCG others(2): Show TGCAGGCGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(137): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03491.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18974.hp2 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18989.hp2 NA18992.hp1 NA18994.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19085.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0020	a0001c0001 a0001c0022 a0002c0002 others(15): Show a0001c0001 a0001c0022 a0002c0002 a0002c0016 a0002c0017 a0003c0003 a0003c0009 a0004c0004 a0005c0010 a0006c0006 a0011c0029 a0012c0013 a0013c0015 a0014c0018 a0015c0026 a0016c0020 a0017c0024 a0020c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 others(22): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 a0001c0022t0008 a0002c0002t0001 a0002c0002t0014 a0002c0002t0016 a0002c0002t0017 a0002c0002t0021 a0002c0016t0010 a0002c0017t0001 a0003c0003t0004 a0003c0003t0007 a0003c0009t0011 a0004c0004t0001 a0005c0010t0004 a0006c0006t0008 a0011c0029t0004 a0012c0013t0001 a0013c0015t0001 a0014c0018t0001 a0015c0026t0001 a0016c0020t0001 a0017c0024t0001 a0020c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0268 a0001c0001t0001g0269 others(137): Show a0001c0001t0001g0003 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0005g0136 a0001c0001t0005g0139 a0001c0001t0005g0180 a0001c0001t0005g0196 a0001c0001t0005g0202 a0001c0001t0019g0235 a0001c0022t0008g0185 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0014g0078 a0002c0002t0016g0029 a0002c0002t0017g0024 a0002c0002t0021g0083 a0002c0016t0010g0090 a0002c0017t0001g0013 a0003c0003t0004g0242 a0003c0003t0004g0244 a0003c0003t0004g0245 a0003c0003t0004g0246 a0003c0003t0004g0252 a0003c0003t0004g0257 a0003c0003t0004g0262 a0003c0003t0004g0264 a0003c0003t0004g0265 a0003c0003t0004g0266 a0003c0003t0004g0267 a0003c0003t0007g0240 a0003c0003t0007g0241 a0003c0003t0007g0243 a0003c0003t0007g0248 a0003c0003t0007g0260 a0003c0009t0011g0253 a0003c0009t0011g0261 a0004c0004t0001g0170 a0005c0010t0004g0247 a0005c0010t0004g0251 a0006c0006t0008g0186 a0006c0006t0008g0187 a0011c0029t0004g0250 a0012c0013t0001g0104 a0013c0015t0001g0051 a0014c0018t0001g0074 a0015c0026t0001g0058 a0016c0020t0001g0001 a0017c0024t0001g0271 a0020c0011t0001g0038	140	274	0.5110	-9	c.38 others(20): Show c.3861_*3869delGCAGGCGGC		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding					3451		chr7	TogoVar
DYRK1A_chr21_37361773_37531358	37479610	TTGTTTTT others(2): Show TTGTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02004.hp2 HG02273.hp2 others(4): Show HG01993.hp1 HG02004.hp2 HG02273.hp2 HG02451.hp2 HG02717.hp1 HG02809.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0067 others(1): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0067 a0001c0001t0101	a0001c0001t0005g0108 a0001c0001t0005g0150 a0001c0001t0014g0079 others(4): Show a0001c0001t0005g0108 a0001c0001t0005g0150 a0001c0001t0014g0079 a0001c0001t0014g0102 a0001c0001t0014g0105 a0001c0001t0067g0110 a0001c0001t0101g0149	7	350	0.0200	-9	c.301 others(26): Show c.301-1026_301-1018delGTTTTTTGT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK3_chr1_206630536_206660158	206656247	ATTTTTTT others(2): Show ATTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(64): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02698.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18956.hp2 NA18961.hp2 NA18963.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp2 NA18995.hp1 NA19012.hp1 NA19084.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0005 a0005c0012 others(1): Show a0001c0001 a0001c0005 a0005c0012 a0006c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0032 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0032 a0001c0001t0033 a0001c0005t0002 a0005c0012t0002 a0006c0010t0002	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 others(31): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0099 a0001c0001t0004g0109 a0001c0001t0032g0053 a0001c0001t0033g0007 a0001c0005t0002g0007 a0005c0012t0002g0047 a0006c0010t0002g0007	67	396	0.1692	-9	c.72 others(20): Show c.7283_*7291delTTTTTTTTT		DYRK3	ENSG00000143479.18	transcript	ENST00000367109.8	protein_coding					1090		chr1	TogoVar
DYRK4_chr12_4557208_4618875	4570040	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01515.hp1 HG01884.hp2 others(18): Show HG01346.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp2 HG04204.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0008 a0001c0009 others(9): Show a0001c0001 a0001c0008 a0001c0009 a0001c0013 a0001c0032 a0002c0030 a0003c0019 a0003c0020 a0003c0021 a0004c0011 a0004c0031 a0006c0018	a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 others(9): Show a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 a0001c0013t0001 a0001c0032t0001 a0002c0030t0001 a0003c0019t0001 a0003c0020t0001 a0003c0021t0001 a0004c0011t0001 a0004c0031t0001 a0006c0018t0001	a0001c0001t0001g0006 a0001c0001t0001g0331 a0001c0001t0001g0332 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0008t0001g0314 a0001c0008t0001g0330 a0001c0009t0001g0244 a0001c0009t0001g0333 a0001c0013t0001g0380 a0001c0032t0001g0111 a0002c0030t0001g0312 a0003c0019t0001g0325 a0003c0019t0001g0326 a0003c0020t0001g0311 a0003c0020t0001g0313 a0003c0021t0001g0327 a0003c0021t0001g0328 a0004c0011t0001g0334 a0004c0031t0001g0280 a0006c0018t0001g0110	21	414	0.0507	-9	c.132 others(26): Show c.132+2023_132+2031delAATAATAAT		DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
DYSF_chr2_71448561_71691763	71519092	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp2 HG01981.hp2 others(11): Show HG00438.hp1 HG01891.hp2 HG01981.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp2 HG03486.hp2 HG03579.hp1 NA19030.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0027 others(1): Show a0001 a0002 a0027 a0028	a0001c0004 a0001c0030 a0001c0047 others(7): Show a0001c0004 a0001c0030 a0001c0047 a0002c0021 a0002c0022 a0002c0023 a0002c0067 a0002c0070 a0027c0066 a0028c0068	a0001c0004t0002 a0001c0030t0001 a0001c0047t0002 others(8): Show a0001c0004t0002 a0001c0030t0001 a0001c0047t0002 a0002c0021t0001 a0002c0022t0001 a0002c0023t0001 a0002c0023t0002 a0002c0067t0001 a0002c0070t0001 a0027c0066t0001 a0028c0068t0004	a0001c0004t0002g0020 a0001c0004t0002g0024 a0001c0030t0001g0081 others(11): Show a0001c0004t0002g0020 a0001c0004t0002g0024 a0001c0030t0001g0081 a0001c0047t0002g0183 a0002c0021t0001g0086 a0002c0021t0001g0090 a0002c0022t0001g0001 a0002c0022t0001g0050 a0002c0023t0001g0072 a0002c0023t0002g0017 a0002c0067t0001g0038 a0002c0070t0001g0150 a0027c0066t0001g0006 a0028c0068t0004g0100	14	192	0.0729	-9	c.907 others(26): Show c.907-1064_907-1056delAAAAAAAAA		DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	9/54					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71635761	AAAAAGAA others(2): Show AAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02965.hp1 others(5): Show HG02647.hp1 HG02723.hp2 HG02965.hp1 HG03195.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0028	a0001c0003 a0001c0004 a0001c0007 others(5): Show a0001c0003 a0001c0004 a0001c0007 a0001c0038 a0002c0021 a0002c0023 a0007c0028 a0028c0068	a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 others(5): Show a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0038t0001 a0002c0021t0001 a0002c0023t0001 a0007c0028t0004 a0028c0068t0004	a0001c0003t0001g0091 a0001c0004t0001g0062 a0001c0007t0001g0184 others(5): Show a0001c0003t0001g0091 a0001c0004t0001g0062 a0001c0007t0001g0184 a0001c0038t0001g0061 a0002c0021t0001g0090 a0002c0023t0001g0072 a0007c0028t0004g0047 a0028c0068t0004g0100	8	192	0.0417	-9	c.441 others(28): Show c.4411-8199_4411-8191delGAAAGAAAA		DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71635770	GAAAAAAG others(2): Show GAAAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02723.hp1 HG02809.hp1 others(4): Show HG00558.hp1 HG02723.hp1 HG02809.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0016 a0001c0048 a0001c0049 others(3): Show a0001c0016 a0001c0048 a0001c0049 a0001c0052 a0001c0064 a0002c0022	a0001c0016t0002 a0001c0048t0002 a0001c0049t0002 others(3): Show a0001c0016t0002 a0001c0048t0002 a0001c0049t0002 a0001c0052t0001 a0001c0064t0001 a0002c0022t0001	a0001c0016t0002g0019 a0001c0016t0002g0021 a0001c0048t0002g0028 others(4): Show a0001c0016t0002g0019 a0001c0016t0002g0021 a0001c0048t0002g0028 a0001c0049t0002g0178 a0001c0052t0001g0009 a0001c0064t0001g0046 a0002c0022t0001g0001	7	192	0.0365	-9	c.441 others(28): Show c.4411-8191_4411-8183delAAAGAAAAA		DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71519092	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG01981.hp1 others(12): Show HG00438.hp1 HG01891.hp1 HG01981.hp1 HG02257.hp1 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG03486.hp2 HG03579.hp2 NA19030.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0030 others(1): Show a0001 a0002 a0030 a0031	a0001c0004 a0001c0031 a0001c0048 others(7): Show a0001c0004 a0001c0031 a0001c0048 a0002c0021 a0002c0022 a0002c0023 a0002c0070 a0002c0075 a0030c0069 a0031c0071	a0001c0004t0001 a0001c0031t0001 a0001c0048t0002 others(8): Show a0001c0004t0001 a0001c0031t0001 a0001c0048t0002 a0002c0021t0001 a0002c0021t0002 a0002c0022t0001 a0002c0023t0001 a0002c0070t0001 a0002c0075t0001 a0030c0069t0001 a0031c0071t0005	a0001c0004t0001g0025 a0001c0004t0001g0030 a0001c0004t0001g0032 others(12): Show a0001c0004t0001g0025 a0001c0004t0001g0030 a0001c0004t0001g0032 a0001c0031t0001g0120 a0001c0048t0002g0190 a0002c0021t0001g0042 a0002c0021t0002g0149 a0002c0022t0001g0111 a0002c0022t0001g0201 a0002c0023t0001g0036 a0002c0023t0001g0123 a0002c0070t0001g0079 a0002c0075t0001g0138 a0030c0069t0001g0200 a0031c0071t0005g0077	15	208	0.0721	-9	c.100 others(28): Show c.1003-1064_1003-1056delAAAAAAAAA		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	10/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71635761	AAAAAGAA others(2): Show AAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02647.hp2 HG02723.hp1 others(6): Show HG01261.hp1 HG02647.hp2 HG02723.hp1 HG02965.hp2 HG03195.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA21309.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0031	a0001c0003 a0001c0004 a0001c0007 others(6): Show a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0040 a0002c0021 a0002c0023 a0009c0029 a0031c0071	a0001c0003t0001 a0001c0004t0001 a0001c0007t0002 others(6): Show a0001c0003t0001 a0001c0004t0001 a0001c0007t0002 a0001c0010t0001 a0001c0040t0001 a0002c0021t0001 a0002c0023t0001 a0009c0029t0005 a0031c0071t0005	a0001c0003t0001g0043 a0001c0004t0001g0080 a0001c0007t0002g0189 others(6): Show a0001c0003t0001g0043 a0001c0004t0001g0080 a0001c0007t0002g0189 a0001c0010t0001g0041 a0001c0040t0001g0096 a0002c0021t0001g0042 a0002c0023t0001g0123 a0009c0029t0005g0084 a0031c0071t0005g0077	9	208	0.0433	-9	c.452 others(28): Show c.4528-8199_4528-8191delGAAAGAAAA		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	41/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71635770	GAAAAAAG others(2): Show GAAAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01167.hp1 HG02723.hp2 others(5): Show HG00558.hp1 HG01167.hp1 HG02723.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0001c0016 a0001c0050 others(4): Show a0001c0009 a0001c0016 a0001c0050 a0001c0051 a0001c0053 a0001c0067 a0002c0022	a0001c0009t0008 a0001c0016t0001 a0001c0050t0001 others(4): Show a0001c0009t0008 a0001c0016t0001 a0001c0050t0001 a0001c0051t0002 a0001c0053t0001 a0001c0067t0001 a0002c0022t0001	a0001c0009t0008g0196 a0001c0016t0001g0026 a0001c0016t0001g0027 others(5): Show a0001c0009t0008g0196 a0001c0016t0001g0026 a0001c0016t0001g0027 a0001c0050t0001g0028 a0001c0051t0002g0195 a0001c0053t0001g0206 a0001c0067t0001g0083 a0002c0022t0001g0201	8	208	0.0385	-9	c.452 others(28): Show c.4528-8191_4528-8183delAAAGAAAAA		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	41/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
DZANK1_chr20_18378367_18472030	18381865	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02129.hp2 HG02451.hp2 others(11): Show HG02071.hp2 HG02129.hp2 HG02451.hp2 HG02622.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp2 NA18956.hp1 NA18978.hp1 NA19000.hp1 NA19003.hp2 NA19075.hp1 NA19088.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0013	a0001c0001 a0001c0006 a0002c0004 others(5): Show a0001c0001 a0001c0006 a0002c0004 a0003c0003 a0003c0018 a0006c0009 a0008c0013 a0013c0035	a0001c0001t0011 a0001c0006t0001 a0002c0004t0001 others(5): Show a0001c0001t0011 a0001c0006t0001 a0002c0004t0001 a0003c0003t0001 a0003c0018t0001 a0006c0009t0001 a0008c0013t0001 a0013c0035t0011	a0001c0001t0011g0275 a0001c0006t0001g0027 a0001c0006t0001g0037 others(10): Show a0001c0001t0011g0275 a0001c0006t0001g0027 a0001c0006t0001g0037 a0002c0004t0001g0043 a0002c0004t0001g0054 a0003c0003t0001g0009 a0003c0018t0001g0205 a0006c0009t0001g0146 a0008c0013t0001g0196 a0008c0013t0001g0198 a0008c0013t0001g0199 a0008c0013t0001g0200 a0013c0035t0011g0097	14	374	0.0374	-9	c.25 others(20): Show c.2525_*2533delTTTTTTTTT		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding					1501		chr20	TogoVar
DZIP1L_chr3_138056990_138120608	138095296	TTGACAGT others(2): Show TTGACAGTAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp1 HG02258.hp2 others(7): Show HG00735.hp2 HG01123.hp1 HG02258.hp2 HG02615.hp2 HG03041.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0010 a0003c0004t0011 a0003c0004t0001 a0003c0004t0010 a0003c0004t0011	a0003c0004t0001g0066 a0003c0004t0001g0129 a0003c0004t0001g0130 others(7): Show a0003c0004t0001g0066 a0003c0004t0001g0129 a0003c0004t0001g0130 a0003c0004t0001g0132 a0003c0004t0001g0133 a0003c0004t0001g0134 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0010g0035 a0003c0004t0011g0131	10	312	0.0321	-9	c.587 others(24): Show c.587-322_587-314delGTACTGTCA		DZIP1L	ENSG00000158163.15	transcript	ENST00000327532.7	protein_coding	3/15						chr3	TogoVar
E2F3_chr6_20396879_20498714	20402363	TCGCCGCC others(2): Show TCGCCGCCGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01255.hp1 HG02723.hp1 HG02809.hp1 others(1): Show HG01255.hp1 HG02723.hp1 HG02809.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 others(1): Show a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0004g0092	4	336	0.0119	-9	c.141 others(16): Show c.141_149delCGCCGCCGC	p.Ala others(11): Show p.Ala48_Ala50del	E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/7	495/5036	141/1398	47/465		INFO_REALIGN_3_PRIME	chr6	TogoVar
E2F3_chr6_20396879_20498714	20462859	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(63): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp2 HG00738.hp2 HG01071.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01516.hp2 HG01943.hp1 HG01978.hp1 HG02015.hp2 HG02040.hp1 HG02129.hp1 HG02148.hp2 HG02300.hp2 HG02683.hp1 HG03195.hp1 HG03239.hp2 HG03491.hp1 HG03704.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp2 NA18962.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19084.hp2 NA19090.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0062 others(62): Show a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0272 a0001c0001t0001g0281 a0001c0001t0001g0299 a0001c0001t0002g0010 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0234 a0001c0001t0003g0029 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0063 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0270 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0286 a0001c0001t0003g0298 a0001c0001t0003g0300 a0001c0001t0003g0305 a0001c0001t0003g0327 a0001c0001t0005g0045 a0001c0001t0005g0150 a0001c0001t0005g0187 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0192 a0001c0001t0005g0236 a0001c0001t0005g0290 a0001c0001t0006g0052 a0001c0001t0006g0210 a0001c0001t0006g0259 a0001c0001t0007g0003 a0001c0001t0007g0079 a0001c0001t0007g0137 a0001c0001t0007g0164 a0001c0001t0007g0295 a0001c0001t0011g0275 a0001c0001t0011g0287 a0001c0001t0013g0223 a0001c0001t0013g0226 a0001c0001t0017g0219 a0001c0001t0018g0193	66	336	0.1964	-9	c.394 others(28): Show c.394-16958_394-16950delTTTTTTTTT		E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
E2F4_chr16_67187155_67203918	67195890	ACAGCAGC others(2): Show ACAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02559.hp1 HG02970.hp1 others(1): Show HG02055.hp2 HG02559.hp1 HG02970.hp1 HG03486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	4	320	0.0125	-9	c.950 others(16): Show c.950_958delGCAGCAGCA	p.Ser others(13): Show p.Ser317_Ser319del	E2F4	ENSG00000205250.9	transcript	ENST00000379378.8	protein_coding	7/10	1023/2110	950/1242	317/413		INFO_REALIGN_3_PRIME	chr16	TogoVar
E2F5_chr8_85172154_85219518	85199543	AGTGGTGG others(2): Show AGTGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(171): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02145.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19059.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19082.hp2 NA19086.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0003c0006t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(148): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0253 a0001c0002t0001g0294 a0003c0006t0001g0152 a0004c0007t0001g0013	174	336	0.5179	-9	c.235 others(26): Show c.235-2590_235-2582delTGGTGGTGG		E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
EBF1_chr5_158690920_159104916	158729384	CTGGGAAC others(2): Show CTGGGAACAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG00741.hp2 others(12): Show HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01168.hp1 HG01257.hp1 HG01361.hp1 HG01934.hp1 HG02486.hp2 HG03710.hp2 HG04184.hp1 NA18954.hp2 NA19009.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0001t0012 a0001c0001t0037 others(5): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0037 a0001c0001t0040 a0001c0001t0055 a0001c0002t0004 a0001c0002t0012 a0001c0004t0004	a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 others(12): Show a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0004g0106 a0001c0001t0004g0125 a0001c0001t0004g0134 a0001c0001t0004g0153 a0001c0001t0012g0011 a0001c0001t0012g0021 a0001c0001t0037g0024 a0001c0001t0040g0026 a0001c0001t0055g0047 a0001c0002t0004g0162 a0001c0002t0012g0023 a0001c0004t0004g0171	15	196	0.0765	-9	c.112 others(28): Show c.1125+1676_1125+1684delTTGTTCCCA		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	11/15						chr5	TogoVar
EBF2_chr8_25836725_26050413	25866484	AATATATA others(2): Show AATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02280.hp2 HG03471.hp1 others(3): Show HG00639.hp1 HG02280.hp2 HG03471.hp1 HG06807.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0013 a0001c0002t0033 a0001c0002t0011 a0001c0002t0013 a0001c0002t0033	a0001c0002t0011g0199 a0001c0002t0011g0212 a0001c0002t0011g0219 others(3): Show a0001c0002t0011g0199 a0001c0002t0011g0212 a0001c0002t0011g0219 a0001c0002t0013g0015 a0001c0002t0013g0099 a0001c0002t0033g0158	6	220	0.0273	-9	c.101 others(28): Show c.1010-3696_1010-3688delATTATATAT		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	10/15						chr8	TogoVar
EBF2_chr8_25836725_26050413	25872679	AAACAACA others(2): Show AAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00597.hp1 others(52): Show HG00140.hp1 HG00323.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01515.hp1 HG01891.hp2 HG01978.hp1 HG02015.hp2 HG02056.hp2 HG02129.hp1 HG02165.hp2 HG02451.hp1 HG02602.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18947.hp2 NA18950.hp2 NA18953.hp2 NA18964.hp2 NA19030.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19087.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037 a0001c0001t0042 a0001c0002t0001 a0001c0002t0013 a0002c0003t0005	a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0002g0011 others(52): Show a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0006g0163 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0196 a0001c0001t0006g0203 a0001c0001t0006g0214 a0001c0001t0028g0113 a0001c0001t0029g0144 a0001c0001t0030g0115 a0001c0001t0037g0160 a0001c0001t0042g0220 a0001c0002t0001g0108 a0001c0002t0013g0015 a0002c0003t0005g0100	55	220	0.2500	-9	c.101 others(28): Show c.1010-9891_1010-9883delGTTGTTGTT		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	10/15						chr8	TogoVar
EBF2_chr8_25836725_26050413	25907419	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02280.hp2 HG03471.hp1 others(3): Show HG01106.hp2 HG02280.hp2 HG03471.hp1 NA18946.hp2 NA19003.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0011 others(1): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0011 a0001c0002t0033	a0001c0001t0004g0031 a0001c0001t0004g0075 a0001c0002t0001g0036 others(3): Show a0001c0001t0004g0031 a0001c0001t0004g0075 a0001c0002t0001g0036 a0001c0002t0001g0123 a0001c0002t0011g0199 a0001c0002t0033g0158	6	220	0.0273	-9	c.633 others(26): Show c.633+1046_633+1054delTTTTTTTTT		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	7/15						chr8	TogoVar
EBF2_chr8_25836725_26050413	25985835	CTACAAAA others(2): Show CTACAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp1 NA20300.hp1 HG01891.hp2 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0002g0147 a0001c0001t0003g0201 a0001c0001t0019g0009 a0001c0001t0002g0147 a0001c0001t0003g0201 a0001c0001t0019g0009	3	220	0.0136	-9	c.551 others(28): Show c.551+47241_551+47249delTTTTTTGTA		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
EBF3_chr10_129830233_129969274	129889946	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02615.hp2 others(4): Show HG02109.hp2 HG02451.hp1 HG02615.hp2 HG02818.hp1 HG02895.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0023	a0001c0001t0001g0008 a0001c0001t0001g0283 a0001c0001t0007g0267 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0283 a0001c0001t0007g0267 a0001c0001t0007g0272 a0001c0001t0011g0246 a0001c0001t0019g0111 a0001c0001t0023g0271	7	338	0.0207	-9	c.555 others(28): Show c.555-12106_555-12098delAAAAAAAAA		EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16						chr10	TogoVar
EBF3_chr10_129830233_129969274	129934235	TGAAGACC others(2): Show TGAAGACCCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02257.hp1 HG02647.hp1 others(5): Show HG01175.hp2 HG02257.hp1 HG02647.hp1 HG02723.hp1 HG03130.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0025 a0001c0001t0048 a0001c0001t0051	a0001c0001t0001g0190 a0001c0001t0002g0006 a0001c0001t0004g0098 others(5): Show a0001c0001t0001g0190 a0001c0001t0002g0006 a0001c0001t0004g0098 a0001c0001t0007g0276 a0001c0001t0017g0223 a0001c0001t0025g0333 a0001c0001t0048g0321 a0001c0001t0051g0323	8	338	0.0237	-9	c.554 others(28): Show c.554+23014_554+23022delGGGGTCTTC		EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16						chr10	TogoVar
EBF4_chr20_2687780_2765108	2711148	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01074.hp2 others(20): Show HG00140.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02300.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp1 HG03490.hp2 NA18906.hp2 NA19240.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0004t0003 a0001c0004t0015	a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 others(19): Show a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0339 a0001c0001t0001g0376 a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0229 a0001c0002t0001g0368 a0001c0002t0001g0374 a0001c0003t0001g0375 a0001c0004t0003g0174 a0001c0004t0015g0321	23	388	0.0593	-9	c.557 others(26): Show c.557+1530_557+1538delTAATAATAA		EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
EBF4_chr20_2687780_2765108	2746648	GTTTGCAG others(2): Show GTTTGCAGAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02895.hp1 others(2): Show HG02630.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0007g0011 others(2): Show a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0002t0001g0270	5	388	0.0129	-9	c.558 others(26): Show c.558-1896_558-1888delCAGACTTTG		EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
EBLN2_chr3_73056659_73068337	73058101	CTTAAAAA others(2): Show CTTAAAAATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01069.hp2 others(85): Show HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18943.hp2 NA18947.hp1 NA18960.hp2 NA18984.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19068.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0003c0003t0005 others(4): Show a0002c0002t0002 a0003c0003t0002 a0003c0003t0005 a0003c0003t0008 a0003c0003t0011 a0003c0003t0019 a0003c0003t0024	a0002c0002t0002g0000 a0003c0003t0002g0000 a0003c0003t0005g0000 others(4): Show a0002c0002t0002g0000 a0003c0003t0002g0000 a0003c0003t0005g0000 a0003c0003t0008g0000 a0003c0003t0011g0000 a0003c0003t0019g0000 a0003c0003t0024g0000	88	428	0.2056	-9	c.-39 others(20): Show c.-3980_-3972delTTAAAAATA		EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding					3557		chr3	TogoVar
ECD_chr10_73128668_73173008	73136954	AATTATTA others(2): Show AATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04115.hp2 HG02698.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	272	0.0074	-9	c.149 others(24): Show c.1490-45_1490-37delAATAATAAT		ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	12/13						chr10	TogoVar
ECE2_chr3_184271022_184298031	184288309	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp2 HG01243.hp2 others(7): Show HG01074.hp1 HG01123.hp2 HG01243.hp2 HG01516.hp1 HG01884.hp2 HG02615.hp1 HG02886.hp2 HG03041.hp2 HG03195.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0005 a0001c0002t0001g0147 a0001c0002t0003g0005 others(1): Show a0001c0002t0001g0005 a0001c0002t0001g0147 a0001c0002t0003g0005 a0001c0002t0003g0128	10	398	0.0251	-9	c.137 others(26): Show c.1374+376_1374+384delAAAAAAAAA		ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding	11/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
ECHDC3_chr10_11737382_11769070	11746328	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG03710.hp2 others(3): Show HG01109.hp1 HG02486.hp1 HG03710.hp2 NA18993.hp1 NA19011.hp2 NA20300.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0003 a0001c0005 a0003c0026 others(1): Show a0001c0003 a0001c0005 a0003c0026 a0005c0009	a0001c0003t0001 a0001c0005t0001 a0003c0026t0001 others(1): Show a0001c0003t0001 a0001c0005t0001 a0003c0026t0001 a0005c0009t0001	a0001c0003t0001g0198 a0001c0005t0001g0031 a0003c0026t0001g0101 others(1): Show a0001c0003t0001g0198 a0001c0005t0001g0031 a0003c0026t0001g0101 a0005c0009t0001g0063	6	420	0.0143	-9	c.171 others(25): Show c.171-1002_171-994delAAAAAAAAA		ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr10	TogoVar
ECM2_chr9_92490315_92540990	92533329	ATATATAT others(2): Show ATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA18946.hp1 NA18967.hp1 others(3): Show HG01256.hp2 NA18946.hp1 NA18967.hp1 NA18970.hp1 NA18990.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0291 a0001c0001t0001g0292 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0315	6	400	0.0150	-9	c.-28 others(26): Show c.-28+2595_-28+2603delATATATATA		ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9						chr9	TogoVar
ECPAS_chr9_111355685_111489383	111356883	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02486.hp1 others(3): Show HG01884.hp2 HG02451.hp2 HG02486.hp1 HG02717.hp1 HG02809.hp1 HG03225.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0004 a0002c0006t0001g0307 a0002c0006t0001g0308 others(2): Show a0002c0006t0001g0004 a0002c0006t0001g0307 a0002c0006t0001g0308 a0002c0006t0001g0309 a0002c0006t0001g0310	6	354	0.0170	-9	c.51 others(20): Show c.5138_*5146delTTTTTTTTT		ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding					3801		chr9	TogoVar
ECPAS_chr9_111355685_111489383	111365288	TATCATCA others(2): Show TATCATCATC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00558.hp1 others(69): Show HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01358.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02135.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03209.hp2 HG03490.hp1 HG03654.hp1 HG03669.hp2 HG03942.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0010 a0001c0013t0001 a0001c0001t0001 a0001c0001t0010 a0001c0013t0001	a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0163 others(69): Show a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0010g0350 a0001c0013t0001g0237	72	354	0.2034	-9	c.530 others(26): Show c.5308+942_5308+950delGATGATGAT		ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	48/49						chr9	TogoVar
ECPAS_chr9_111355685_111489383	111383968	TATCATCA others(2): Show TATCATCATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00639.hp2 others(29): Show HG00099.hp1 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG02055.hp1 HG02615.hp2 HG03017.hp2 HG03239.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0014 a0002c0002 a0007c0014	a0002c0002t0001 a0002c0002t0005 a0007c0014t0001 a0002c0002t0001 a0002c0002t0005 a0007c0014t0001	a0002c0002t0001g0003 a0002c0002t0001g0124 a0002c0002t0001g0125 others(28): Show a0002c0002t0001g0003 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0005g0005 a0007c0014t0001g0345	32	354	0.0904	-9	c.368 others(26): Show c.3681+545_3681+553delGATGATGAT		ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	34/49						chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407403	GAAAAAAA others(2): Show GAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04184.hp1 NA18944.hp1 others(7): Show HG03831.hp2 HG04184.hp1 NA18944.hp1 NA18948.hp2 NA18990.hp1 NA19002.hp1 NA19007.hp2 NA19060.hp2 NA19065.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0191 others(7): Show a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0227 a0001c0001t0001g0231 a0002c0002t0001g0126 a0002c0002t0001g0143	10	354	0.0283	-9	c.265 others(28): Show c.2652+1159_2652+1167delTTTTTTTTT		ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49						chr9	TogoVar
ECRG4_chr2_106060688_106083155	106071322	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(13): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01261.hp2 HG02145.hp1 HG02451.hp2 HG02572.hp2 HG02735.hp1 HG02809.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0180 others(12): Show a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0271 a0001c0001t0003g0193 a0001c0002t0001g0033 a0001c0002t0001g0085 a0002c0004t0001g0112 a0002c0004t0001g0133 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0194 a0002c0004t0001g0270	16	434	0.0369	-9	c.80- others(22): Show c.80-500_80-492delAAAAAAAAA		ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
ECT2L_chr6_138791087_138909070	138857672	CACCTCAG others(2): Show CACCTCAGTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02970.hp1 others(2): Show HG02486.hp2 HG02559.hp1 HG02970.hp1 HG03540.hp2 NA19043.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0018 a0008c0031 a0001c0001 a0001c0018 a0008c0031	a0001c0001t0007 a0001c0001t0008 a0001c0001t0029 others(2): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0029 a0001c0018t0020 a0008c0031t0017	a0001c0001t0007g0006 a0001c0001t0008g0250 a0001c0001t0029g0262 others(2): Show a0001c0001t0007g0006 a0001c0001t0008g0250 a0001c0001t0029g0262 a0001c0018t0020g0007 a0008c0031t0017g0316	5	326	0.0153	-9	c.119 others(28): Show c.1198+3519_1198+3527delACCTCAGTG		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	10/21						chr6	TogoVar
ECT2L_chr6_138791087_138909070	138890492	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp2 HG02293.hp1 others(7): Show HG00741.hp1 HG01261.hp2 HG02293.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG03486.hp1 NA18957.hp2 NA19072.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0006c0015 a0001c0001 a0006c0011 a0006c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0006c0011t0014 a0006c0015t0003	a0001c0001t0002g0174 a0001c0001t0002g0203 a0001c0001t0003g0134 others(7): Show a0001c0001t0002g0174 a0001c0001t0002g0203 a0001c0001t0003g0134 a0001c0001t0003g0215 a0001c0001t0005g0289 a0001c0001t0016g0211 a0001c0001t0016g0212 a0006c0011t0014g0013 a0006c0011t0014g0237 a0006c0015t0003g0239	10	326	0.0307	-9	c.241 others(28): Show c.2414+1481_2414+1489delTTTTTTTTT		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr6	TogoVar

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