Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
CAMK2B_chr7_44212154_44330594	44227678	GTGGGGGA others(90): Show GTGGGGGACAGAAAAGGGCGTGAAGGGACCAAGGTGGGTGTGGGGGACAG AGGGGTATATGGGGGACAGAGGAGGGTGTGGGGGACAGAGGGAGAGTC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG06807.hp2 HG02257.hp2 HG03139.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0116 a0001c0003t0002g0037 a0001c0003t0002g0139 a0001c0001t0002g0116 a0001c0003t0002g0037 a0001c0003t0002g0139	3	235	0.0128	-97	c.146 others(116): Show c.1468+1021_1469-1035delGACTCTCCCTCTGTCCCCCACACCCT CCTCTGTCCCCCATATACCCCTCTGTCCCCCACACCCACCTTGGTCCCTT CACGCCCTTTTCTGTCCCCCA		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23						chr7	TogoVar
CANT1_chr17_78986716_79014764	79004585	AGGAGTTA others(90): Show AGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTT AGGGAGAGGGGAGCTGGGGGGGAGTTATGGAGCAAGGAGTTAGGGAGG	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19060.hp2 NA19077.hp1 others(1): Show NA19058.hp2 NA19060.hp2 NA19077.hp1 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0073 others(1): Show a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0104	4	349	0.0115	-97	c.-14 others(116): Show c.-147+4982_-147+5078delCCTCCCTAACTCCTTGCTCCATAACT CCCCCCCAGCTCCCCTCTCCCTAACTCCCCTCTCCCTAACTCCCCTCCCT AACTCCCCTCTCCTTAACTCC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CDH4_chr20_61247261_61945617	61944664	TTCTCACT others(90): Show TTCTCACTGACGATGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTTC TCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02723.hp1 HG03130.hp1 others(1): Show HG01255.hp1 HG02723.hp1 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0013 a0001c0020 a0001c0006 a0001c0013 a0001c0020	a0001c0006t0006 a0001c0006t0026 a0001c0013t0006 others(1): Show a0001c0006t0006 a0001c0006t0026 a0001c0013t0006 a0001c0020t0006	a0001c0006t0006g0036 a0001c0006t0026g0034 a0001c0013t0006g0035 others(1): Show a0001c0006t0006g0036 a0001c0006t0026g0034 a0001c0013t0006g0035 a0001c0020t0006g0093	4	106	0.0377	-97	c.77 others(108): Show c.7722_*7818delTCTCACTGACGATGAGCATTGCGACTGTATGCAC CGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCAC CGTGGCCGCCCCC		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4048		chr20	TogoVar
CDH7_chr18_65746012_65895337	65782021	TCTTTCTC others(90): Show TCTTTCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0025 a0001c0001t0049g0025	1	197	0.0051	-97	c.210 others(116): Show c.210+18970_210+19066delCTTTCTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCTTTCTTTC		CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11						chr18	TogoVar
CELF1_chr11_47460937_47558132	47541697	AGAAAGAA others(90): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAACGAAAGAAAGAACGAAAG AAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAACG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG00735.hp1 others(27): Show HG00609.hp2 HG00639.hp2 HG00735.hp1 HG01167.hp2 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01978.hp1 HG02055.hp2 HG02165.hp2 HG02257.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp2 HG04184.hp1 HG04184.hp2 NA18966.hp1 NA18971.hp2 NA18990.hp2 NA18995.hp1 NA19060.hp1 NA19082.hp2 NA19084.hp2 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0012 a0001c0001t0017 others(3): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0004t0002	a0001c0001t0002g0024 a0001c0001t0002g0226 a0001c0001t0002g0229 others(27): Show a0001c0001t0002g0024 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0295 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0012g0251 a0001c0001t0012g0258 a0001c0001t0017g0255 a0001c0001t0026g0291 a0001c0001t0027g0225 a0001c0004t0002g0303	30	336	0.0893	-97	c.-15 others(118): Show c.-154+11198_-154+11294delCGTTCTTTCTTTCGTTCTTTCTTT CGTTCTTTCTTTCGTTCTTTCTTTCTTTCGTTCTTTCTTTCGTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC		CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14						chr11	TogoVar
CEL_chr9_133056981_133076861	133071436	CCCCCCCC others(90): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC ACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGG	C C	frameshift_variant frameshift_variant	HIGH	HG00733.hp2 HG01517.hp2 HG00733.hp2 HG01517.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0002 a0003c0006t0001g0002	2	403	0.0050	-97	c.194 others(106): Show c.1942_2038delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTG CCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGC CGGGCCCCCCC	p.Val others(5): Show p.Val648fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1964/2381	1942/2262	648/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPE_chr4_103100811_103203343	103139050	TTCTTCCC others(90): Show TTCTTCCCAGCACCTTGGAAAAGTTCATATCCTGTGTACATTTTGCATTT CTGATTAAAAAGTATAAAGTGAAACAAAAACATTTTCTCCCACTTATC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00558.hp1 others(50): Show HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01358.hp1 HG01361.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02486.hp2 HG02630.hp2 HG02895.hp2 HG02922.hp1 HG03654.hp2 HG03927.hp2 HG04199.hp2 NA18940.hp2 NA18944.hp2 NA18948.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18993.hp1 NA19000.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19072.hp1 NA19075.hp2 NA19078.hp2 NA19081.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0003c0029 a0008c0009 a0003c0003 a0003c0029 a0008c0009	a0003c0003t0001 a0003c0029t0001 a0008c0009t0001 a0003c0003t0001 a0003c0029t0001 a0008c0009t0001	a0003c0003t0001g0003 a0003c0003t0001g0069 a0003c0003t0001g0101 others(48): Show a0003c0003t0001g0003 a0003c0003t0001g0069 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0029t0001g0173 a0008c0009t0001g0143 a0008c0009t0001g0144 a0008c0009t0001g0145 a0008c0009t0001g0146	53	318	0.1667	-97	c.620 others(114): Show c.6204+642_6205-602delGATAAGTGGGAGAAAATGTTTTTGTTTC ACTTTATACTTTTTAATCAGAAATGCAAAATGTACACAGGATATGAACTT TTCCAAGGTGCTGGGAAGA		CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	38/48						chr4	TogoVar
CHRM3_chr1_239381568_239920450	239802050	CTTAGTTC others(90): Show CTTAGTTCTCTTCTATTCACTATAATGAATCCCTGACATTTCCAAAAATG AGAAATTCTGGATTGTTTCTACTAAGTGAAACTTTGTACAAGTTCAAG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03540.hp1 HG03041.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0029 a0001c0001t0021 a0001c0001t0029	a0001c0001t0021g0019 a0001c0001t0029g0089 a0001c0001t0021g0019 a0001c0001t0029g0089	2	114	0.0175	-97	c.-14 others(118): Show c.-146-25199_-146-25103delAGTTCTCTTCTATTCACTATAATG AATCCCTGACATTTCCAAAAATGAGAAATTCTGGATTGTTTCTACTAAGT GAAACTTTGTACAAGTTCAAGTT		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CLN8_chr8_1758789_1791570	1763547	GCCGCGCC others(90): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02895.hp1 HG02809.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0001 a0001c0001t0026g0001 a0001c0001t0001g0001 a0001c0001t0026g0001	2	408	0.0049	-97	c.-46 others(106): Show c.-461_-365delCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCC GCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCC GCCGCGCCCCT		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					241		chr8	TogoVar
CNTN1_chr12_40687439_41077415	41056991	ATATTATA others(90): Show ATATTATAAATATTTAGATATTTATAAATGATATTTATAAATATTATAAA TATTTAGATATTTATAAATATTATAAATATTTAGATATTTATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp2 HG02897.hp1 others(1): Show HG02572.hp2 HG02895.hp2 HG02897.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0007 a0001c0003t0016 a0001c0004t0007 a0001c0001t0007 a0001c0003t0016 a0001c0004t0007	a0001c0001t0007g0002 a0001c0003t0016g0226 a0001c0004t0007g0003 others(1): Show a0001c0001t0007g0002 a0001c0003t0016g0226 a0001c0004t0007g0003 a0001c0004t0007g0004	4	230	0.0174	-97	c.298 others(118): Show c.2981-12964_2981-12868delTATAAATATTTAGATATTTATAAA TGATATTTATAAATATTATAAATATTTAGATATTTATAAATATTATAAAT ATTTAGATATTTATAAATATTAT		CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr12	TogoVar
COL26A1_chr7_101357875_101564024	101489659	TTCTTCCT others(90): Show TTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTT CTTTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0099 a0002c0004t0024g0099	1	162	0.0062	-97	c.385 others(116): Show c.385+41877_385+41973delCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTC TCTTTCTTTCTTGTCTCTCTT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CROCC2_chr2_240901336_240998311	240923299	CATTAGGA others(90): Show CATTAGGACCCTGGCAACAGACCCTGGCCACCAGCCACACCTGAGTCCAG TGTGTGGATCACCCACTCACACCCTGAGATGGAGCTGACGATGTCATG	C C	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0054 a0054	a0054c0066 a0054c0066	a0054c0066t0002 a0054c0066t0002	a0054c0066t0002g0326 a0054c0066t0002g0326	1	348	0.0029	-97	c.488 others(112): Show c.488+655_488+751delATTAGGACCCTGGCAACAGACCCTGGCCAC CAGCCACACCTGAGTCCAGTGTGTGGATCACCCACTCACACCCTGAGATG GAGCTGACGATGTCATG		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31						chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985562	CACTGCAC others(90): Show CACTGCACACACCCAGCACACACACCCAGGCACTCACTCCACACACACCC AGACACTCACTCCACACACACCCAGGCACTCACTCCACACACACCCAG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG01175.hp2 others(14): Show HG00609.hp1 HG00738.hp1 HG01175.hp2 HG01981.hp2 HG02027.hp1 HG02080.hp2 HG02155.hp2 HG03942.hp2 NA18952.hp1 NA18962.hp1 NA18965.hp1 NA18973.hp2 NA18994.hp2 NA18998.hp2 NA19005.hp1 NA19082.hp2 NA19087.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0067 a0001c0089 others(2): Show a0001c0001 a0001c0067 a0001c0089 a0006c0006 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0067t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0067t0002 a0001c0089t0001 a0006c0006t0001 a0006c0006t0003 a0010c0010t0001	a0001c0001t0001g0124 a0001c0001t0002g0250 a0001c0001t0002g0254 others(14): Show a0001c0001t0001g0124 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0280 a0001c0001t0002g0293 a0001c0001t0002g0299 a0001c0001t0002g0336 a0001c0067t0002g0278 a0001c0089t0001g0158 a0006c0006t0001g0116 a0006c0006t0001g0181 a0006c0006t0003g0106 a0010c0010t0001g0145 a0010c0010t0001g0203 a0010c0010t0001g0215 a0010c0010t0001g0216 a0010c0010t0001g0226	17	348	0.0489	-97	c.455 others(116): Show c.4551+2534_4551+2630delACTGCACACACCCAGCACACACACCC AGGCACTCACTCCACACACACCCAGACACTCACTCCACACACACCCAGGC ACTCACTCCACACACACCCAG		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31						chr2	TogoVar
CTNNA3_chr10_65907523_67701195	67301966	AAGAAAGA others(90): Show AAGAAAGAAAAAAGAAAGAAAGAAAGAACGAAAGAACGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0019 a0001c0001t0019g0019	1	23	0.0435	-97	c.580 others(116): Show c.580-82193_580-82097delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCGTTCTTT CTTTCTTTCTTTTTTCTTTCT		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17						chr10	TogoVar
CYP27C1_chr2_127178832_127225299	127204458	AAGAAAGA others(90): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAA AGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0169 a0001c0002t0018g0169	1	350	0.0029	-97	c.474 others(112): Show c.474-984_474-888delCTCTCTCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCCTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCT		CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	2/8						chr2	TogoVar
DCAKD_chr17_45018344_45056632	45051796	CGGGGCCG others(90): Show CGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTG GGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	406	0.0025	-97	c.-64 others(106): Show c.-647_-551delCGTCCGCCCGCCCGCCCAACCTCTCCCGGCCCCGCC CGCCCGCCCGCCCAACCTCTCCCGGCCCCGCCCGCCCGCCCGCCCAACCT CTCCCGGCCCC		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding					165		chr17	TogoVar
DHRSX_chrX_2214506_2505976	2227781	AAGGGAGG others(90): Show AAGGGAGGGGGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGAG AGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02630.hp1 HG02055.hp1 HG02486.hp2 HG02630.hp1	a0002 a0005 a0002 a0005	a0002c0005 a0005c0008 a0002c0005 a0005c0008	a0002c0005t0004 a0002c0005t0008 a0005c0008t0006 a0002c0005t0004 a0002c0005t0008 a0005c0008t0006	a0002c0005t0004g0030 a0002c0005t0008g0007 a0005c0008t0006g0032 a0002c0005t0004g0030 a0002c0005t0008g0007 a0005c0008t0006g0032	3	47	0.0638	-97	c.805 others(114): Show c.805-6649_805-6553delCTCTCCCTCCCTCCCTCCCTCCCTCTCT CCCTCCCTCTCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCCTC CCTCCCTTCCCCCCTCCCT		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6						chrX	TogoVar
DHX9_chr1_182834347_182892982	182891529	GGACTCCT others(90): Show GGACTCCTTCCTTCAGCTGAAGAATGGTTCAACATATGCAAATCAACCAA TGTGATAAATCATATCAACGGGATGAAGGACAAAAAACATGATAATTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	274	0.0036	-97	c.40 others(108): Show c.4096_*4192delGACTCCTTCCTTCAGCTGAAGAATGGTTCAACAT ATGCAAATCAACCAATGTGATAAATCATATCAACGGGATGAAGGACAAAA AACATGATAATTT		DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding					3548		chr1	TogoVar
DIAPH3_chr13_59660583_60168928	60038307	ATTAGCAA others(90): Show ATTAGCAACTTCAAATTTCTGATCTTGAAAGACTTCCTCAGATCATGTTG ATAAAAATGAGTACACTGATCTCACTGCTTGTCACAAGTTTTTCTGTC	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0011 a0001c0001t0008g0011	1	206	0.0049	-97	c.626 others(114): Show c.626+4286_626+4382delGACAGAAAAACTTGTGACAAGCAGTGAG ATCAGTGTACTCATTTTTATCAACATGATCTGAGGAAGTCTTTCAAGATC AGAAATTTGAAGTTGCTAA		DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	5/27						chr13	TogoVar
DIP2C_chr10_269201_694668	322610	GGGGCTCC others(90): Show GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0060 a0001c0003t0002g0060	1	88	0.0114	-97	c.392 others(116): Show c.3924+4299_3924+4395delGCACCCCCGACTGACTGTTCTAACAA CACTGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCGCCGGAGCCC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	322953	GGGGCTCC others(90): Show GGGGCTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	87	0.0115	-97	c.392 others(116): Show c.3924+3956_3924+4052delGCACCCCCGACTGACTGTTCTAACAA CACTGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCACTGGAGCCC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DLGAP2_chr8_732628_1713476	1014208	GCGCCTCC others(90): Show GCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGA GACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	37	0.0270	-97	c.73+ others(116): Show c.73+106254_73+106350delCGTGTGTGACCAGGACAGACGGTGCC TCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCA GGACAGACGACGCCTCCACTG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC12_chr10_67791669_67843188	67840433	AGGAGGTG others(90): Show AGGAGGTGGAGGCTGCAATGAGCTGAGATCACACCACTGCACTCCAGCCT GGGTGACAGAGCACGACCTTGTCTAACACAAACAAACAAAAAAGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	382	0.0026	-97	c.-25 others(108): Show c.-2519_-2423delCACACTTTTTTGTTTGTTTGTGTTAGACAAGGTC GTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCATTGC AGCCTCCACCTCC		DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding					2246		chr10	TogoVar
DPP10_chr2_114437641_115850780	115664839	AGCTTTTG others(90): Show AGCTTTTGCTGTTCAACACATCGCCACTAGTCACATGTGGCCATTCATAT TTACATTCACATTAAATAAAATTATATATTCAGTCTGTCAGTTGTACT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0052 a0005c0007t0011g0052	1	56	0.0179	-97	c.442 others(116): Show c.442-24847_442-24751delGCTTTTGCTGTTCAACACATCGCCAC TAGTCACATGTGGCCATTCATATTTACATTCACATTAAATAAAATTATAT ATTCAGTCTGTCAGTTGTACT		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	5/25						chr2	TogoVar
DYNC2I1_chr7_158851558_158951189	158878884	ACCATGTG others(90): Show ACCATGTGGGGAGGCCAGGAGGGCCGACTGTGAGTGCTGGGTGCCATGTG GGGAGGCGAGGAGGGGAGGCCAGGAGGACTGACTGTGAGTGCCGGGTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0008 a0008c0007t0008	a0008c0007t0008g0114 a0008c0007t0008g0114	1	272	0.0037	-97	c.574 others(112): Show c.574-749_574-653delGGAGGCGAGGAGGGGAGGCCAGGAGGACTG ACTGTGAGTGCCGGGTGCCATGTGGGGAGGCCAGGAGGGCCGACTGTGAG TGCTGGGTGCCATGTGG		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	4/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158919954	AGAACACG others(90): Show AGAACACGTGAAGTGTGTGTGTGTACTGCAGCGCTGTGGCCTCCGTCGGA GAACACGTGAAGTGTGTGTGTGTACCACAGCGTGTGGCCTCCAACGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0240 a0003c0003t0007g0240	1	272	0.0037	-97	c.192 others(116): Show c.1921+1110_1921+1206delCTGCAGCGCTGTGGCCTCCGTCGGAG AACACGTGAAGTGTGTGTGTGTACCACAGCGTGTGGCCTCCAACGGGGAA CACGTGAAGTGTGTGTGTGTA		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	15/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
E4F1_chr16_2218591_2240742	2232797	CGGGAGTC others(90): Show CGGGAGTCGGGTGCACTGACCCGGCACCTCAAGTCTCTCACCCCCTGCAC AGAGAAAATCCGCTTCAGTGTGAGCAAGGACGTGGTTGTCAGCAAAGA	C C	frameshift_variant frameshift_variant	HIGH	HG03225.hp2 HG03225.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0003 a0009c0011t0001g0003	1	390	0.0026	-97	c.775 others(104): Show c.775_871delGAGTCGGGTGCACTGACCCGGCACCTCAAGTCTCTCAC CCCCTGCACAGAGAAAATCCGCTTCAGTGTGAGCAAGGACGTGGTTGTCA GCAAAGAGG	p.Glu others(5): Show p.Glu259fs	E4F1	ENSG00000167967.16	transcript	ENST00000301727.9	protein_coding	6/14	798/2548	775/2355	259/784		INFO_REALIGN_3_PRIME	chr16	TogoVar
EDIL3_chr5_83935554_84389880	84312166	CGGGCAGC others(90): Show CGGGCAGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCCGACGG GGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0150 a0001c0001t0006g0150	1	156	0.0064	-97	c.68- others(114): Show c.68-58051_68-57955delCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCACCCGGCCAGCCGCCCCGTCGGGGAGGGAGGTGGGGGGGTCAGCC CCCGCCCGGCCAGCTGCCC		EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10						chr5	TogoVar
EIF4G3_chr1_20801479_21181897	20981520	CATACATA others(90): Show CATACATACATGTATACGCACATACTGTATGTATACATACATACATGTAT ACGCACATACTGTATGTATACATACATGTATACGCACATACTGTATGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01069.hp1 HG01074.hp2 others(47): Show HG00408.hp2 HG01069.hp1 HG01074.hp2 HG01106.hp1 HG01243.hp1 HG01256.hp1 HG01516.hp2 HG01884.hp2 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18960.hp2 NA18964.hp2 NA18979.hp1 NA18988.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19043.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0002c0003t0001	a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0208 others(47): Show a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0003g0237 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0010g0214 a0001c0001t0010g0228 a0001c0001t0014g0099 a0001c0001t0020g0209 a0001c0001t0023g0299 a0001c0001t0024g0300 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204	50	306	0.1634	-97	c.199 others(112): Show c.199-390_199-294delACATACAGTATGTGCGTATACATGTATGTA TACATACAGTATGTGCGTATACATGTATGTATGTATACATACAGTATGTG CGTATACATGTATGTAT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	8/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20981665	GCACATAC others(90): Show GCACATACTGTATGTATACATACATGTATACGCACATACTGTATGTATAC ATACATGTATACGCACATACTGTATATACACATACATATATGTATACA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03486.hp1 NA19043.hp1 HG02809.hp2 HG03486.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0005g0294 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0005g0294	3	310	0.0097	-97	c.199 others(112): Show c.199-535_199-439delTGTATACATATATGTATGTGTATATACAGT ATGTGCGTATACATGTATGTATACATACAGTATGTGCGTATACATGTATG TATACATACAGTATGTG		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	8/36						chr1	TogoVar
ENSA_chr1_150617125_150634612	150620458	CCAAACAT others(90): Show CCAAACATTTTTGGCACCCCAGGCTTCTTAAGGCCACAAATTAAAATTGA GGACCAGGGAAGCCAGGAATAGTGGGAAGAAATAATATAAAAGCCTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19084.hp2 NA19060.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	420	0.0048	-97	c.22 others(108): Show c.2289_*2385delTTAGGCTTTTATATTATTTCTTCCCACTATTCCT GGCTTCCCTGGTCCTCAATTTTAATTTGTGGCCTTAAGAAGCCTGGGGTG CCAAAAATGTTTG		ENSA	ENSG00000143420.19	transcript	ENST00000369014.10	protein_coding					1666		chr1	TogoVar
EPHA8_chr1_22558489_22608595	22599637	GGGAGGGA others(90): Show GGGAGGGAGGGAAGGAAGGAAAGGAGGGAGGGAGGAAGGAGGGAAGGAAG GAAAGGAGGGAGGGAGGAAGGAGGGAAGGAAGGGAGGGAGGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG00738.hp2 others(42): Show HG00438.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01358.hp1 HG01496.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02080.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03195.hp2 HG03654.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp2 NA18948.hp1 NA18965.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0008 a0013	a0001c0001 a0001c0002 a0001c0010 others(5): Show a0001c0001 a0001c0002 a0001c0010 a0001c0015 a0006c0019 a0007c0035 a0008c0031 a0013c0030	a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 others(12): Show a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0022 a0001c0002t0026 a0001c0002t0044 a0001c0010t0002 a0001c0010t0009 a0001c0010t0042 a0001c0015t0008 a0006c0019t0004 a0007c0035t0008 a0008c0031t0004 a0013c0030t0004	a0001c0001t0009g0248 a0001c0002t0002g0149 a0001c0002t0002g0150 others(41): Show a0001c0001t0009g0248 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0004g0070 a0001c0002t0004g0072 a0001c0002t0004g0073 a0001c0002t0004g0109 a0001c0002t0004g0110 a0001c0002t0004g0111 a0001c0002t0004g0112 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0004g0121 a0001c0002t0004g0122 a0001c0002t0004g0124 a0001c0002t0004g0126 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0004g0129 a0001c0002t0004g0131 a0001c0002t0004g0141 a0001c0002t0004g0164 a0001c0002t0005g0027 a0001c0002t0005g0068 a0001c0002t0005g0078 a0001c0002t0005g0079 a0001c0002t0005g0261 a0001c0002t0022g0157 a0001c0002t0022g0160 a0001c0002t0026g0231 a0001c0002t0044g0123 a0001c0010t0002g0098 a0001c0010t0009g0034 a0001c0010t0042g0099 a0001c0015t0008g0119 a0006c0019t0004g0147 a0006c0019t0004g0148 a0007c0035t0008g0156 a0008c0031t0004g0125 a0013c0030t0004g0071	45	338	0.1331	-97	c.238 others(114): Show c.2388+602_2388+698delAGGAAGGAAAGGAGGGAGGGAGGAAGGA GGGAAGGAAGGAAAGGAGGGAGGGAGGAAGGAGGGAAGGAAGGGAGGGAG GGAAGGAAGGAGGGAGGGA		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
ESPNL_chr2_238095340_238138287	238118506	GGAGGGTG others(90): Show GGAGGGTGGATGGAGAAGGGTGGATGGAGGAGGAATGGATGGAAGAGGTG GATGGAGGAGAGTGAATGGAGGAGGTGGATGGAGAAGGGTGGATGGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18949.hp1 HG00558.hp2 NA18949.hp1	a0001 a0038 a0001 a0038	a0001c0018 a0038c0099 a0001c0018 a0038c0099	a0001c0018t0003 a0038c0099t0003 a0001c0018t0003 a0038c0099t0003	a0001c0018t0003g0230 a0038c0099t0003g0257 a0001c0018t0003g0230 a0038c0099t0003g0257	2	404	0.0050	-97	c.987 others(114): Show c.987+1487_987+1583delAAGGGTGGATGGAGGAGGAATGGATGGA AGAGGTGGATGGAGGAGAGTGAATGGAGGAGGTGGATGGAGAAGGGTGGA TGGAAGAGGGTGGATGGAG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
EXD1_chr15_41177728_41235757	41206175	ACAGGAAA others(90): Show ACAGGAAAATCCGGGCCAGGGGTGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAAGCCAAGGCAGGCAGATCACTTGAGGTTAGAAGTTCAAGAC	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	316	0.0032	-97	c.534 others(114): Show c.534+3229_534+3325delGTCTTGAACTTCTAACCTCAAGTGATCT GCCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACC CCTGGCCCGGATTTTCCTG		EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11						chr15	TogoVar
FABP1_chr2_88117982_88133062	88130326	GGAGAGAG others(90): Show GGAGAGAGAGGAATGTGGCAGGCAGGCAGGAGAGAGGCCACCAAGAGGGC ATGGGGTGATGGGTCACTGAGATACCCCCAGTGACCGCAAGGCAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(62): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG02056.hp1 HG02074.hp2 HG02486.hp2 HG02523.hp1 HG02647.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03209.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 NA18747.hp2 NA18906.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18968.hp1 NA18986.hp1 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19054.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19079.hp1 NA19089.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0066 a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0015 a0002c0002t0001g0025 a0002c0002t0001g0059	65	466	0.1395	-97	c.-24 others(108): Show c.-2406_-2310delTTCTTGCCTTGCGGTCACTGGGGGTATCTCAGTG ACCCATCACCCCATGCCCTCTTGGTGGCCTCTCTCCTGCCTGCCTGCCAC ATTCCTCTCTCTC		FABP1	ENSG00000163586.10	transcript	ENST00000295834.8	protein_coding					2265		chr2	TogoVar
FAM227B_chr15_49321970_49625818	49549917	CCCCCCCA others(90): Show CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	292	0.0034	-97	c.748 others(114): Show c.748-8208_748-8112delTCAGCCCCCTGCCCGGCCAGCCGCCCCG TCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGG		FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	9/15						chr15	TogoVar
FBRSL1_chr12_132485151_132590188	132556657	TCCAACCC others(90): Show TCCAACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCATGCTGCCTC CAACCCCTGTCCTGTGGGACGCTCTTCTTCAGGCCTTCGTGCTGCACC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02145.hp2 others(6): Show HG01891.hp1 HG02109.hp2 HG02145.hp2 HG02615.hp1 HG02622.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 NA18906.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0033	a0001c0011 a0001c0012 a0002c0004 others(4): Show a0001c0011 a0001c0012 a0002c0004 a0002c0050 a0004c0030 a0007c0080 a0033c0061	a0001c0011t0012 a0001c0012t0006 a0002c0004t0002 others(4): Show a0001c0011t0012 a0001c0012t0006 a0002c0004t0002 a0002c0050t0002 a0004c0030t0012 a0007c0080t0031 a0033c0061t0006	a0001c0011t0012g0143 a0001c0012t0006g0085 a0001c0012t0006g0086 others(6): Show a0001c0011t0012g0143 a0001c0012t0006g0085 a0001c0012t0006g0086 a0002c0004t0002g0089 a0002c0050t0002g0087 a0004c0030t0012g0142 a0004c0030t0012g0144 a0007c0080t0031g0074 a0033c0061t0006g0068	9	252	0.0357	-97	c.645 others(114): Show c.645+8665_645+8761delATGCTGCCTCCAACCCCTGTCCTGTGGG ACGCTCTTCTTCAGGCCTTCGTGCTGCACCCCAACCCCTGTCCTGTGGGA CGCTCCTCTCCAGGCCTTC		FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXW8_chr12_116905950_117036148	117026181	GTCAGTCC others(90): Show GTCAGTCCTCCAGGCTGCAGGCCTCCACCAAGCCTGCCCTCCCTCCCCGG GTCTTTCTCATCCTCCAGGTCCCATGCCAGGTCCACCAACACTTTCCT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01256.hp2 others(18): Show HG00741.hp1 HG01074.hp2 HG01256.hp2 HG02135.hp1 HG02145.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03710.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0020	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(7): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0003c0003t0006 a0003c0003t0010 a0003c0003t0019 a0003c0003t0021 a0003c0003t0029 a0003c0020t0020	a0001c0001t0001g0189 a0002c0002t0001g0146 a0002c0002t0002g0145 others(17): Show a0001c0001t0001g0189 a0002c0002t0001g0146 a0002c0002t0002g0145 a0002c0002t0005g0064 a0002c0002t0005g0100 a0002c0002t0005g0134 a0003c0003t0006g0004 a0003c0003t0006g0006 a0003c0003t0006g0008 a0003c0003t0006g0009 a0003c0003t0006g0151 a0003c0003t0006g0152 a0003c0003t0006g0153 a0003c0003t0010g0016 a0003c0003t0010g0017 a0003c0003t0010g0019 a0003c0003t0019g0024 a0003c0003t0021g0007 a0003c0003t0029g0018 a0003c0020t0020g0081	21	288	0.0729	-97	c.154 others(115): Show c.1542-1072_1542-976delCCCCGGGTCTTTCTCATCCTCCAGGTC CCATGCCAGGTCCACCAACACTTTCCTTCAGTCCTCCAGGCTGCAGGCCT CCACCAAGCCTGCCCTCCCT		FBXW8	ENSG00000174989.13	transcript	ENST00000652555.1	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXW8_chr12_116905950_117036148	117026322	CCCCGGGT others(90): Show CCCCGGGTCTTTCTCATCCTCCAGGTCCCATGCCAGGTCCACCAACACTT TCCTTCAGTCCTCCAGGCTGCAGGCCTCCACCAAGCCTGCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20129.hp1 HG01891.hp2 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0010 a0003c0003t0011g0011 a0003c0003t0011g0010 a0003c0003t0011g0011	2	288	0.0069	-97	c.154 others(115): Show c.1542-1016_1542-920delAGTCCTCCAGGCTGCAGGCCTCCACCA AGCCTGCCCTCCCTTCCCGGGTCTTTCTCATCCTCCAGGTCCCATGCCAG GTCCACCAACACTTTCCTTC		FBXW8	ENSG00000174989.13	transcript	ENST00000652555.1	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
FLNC_chr7_128825406_128864272	128863209	CCGTTTGG others(90): Show CCGTTTGGGGCTCGGTGGGACAGAAGCTGTATCAGGTCCACGAGCCCCCC CACCTCACATGATCGTGTGTCATGAAAGAAGGGGAACAGAGCTCGTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0003 a0001c0049t0003	a0001c0049t0003g0112 a0001c0049t0003g0112	1	382	0.0026	-97	c.46 others(108): Show c.4687_*4783delCGTTTGGGGCTCGGTGGGACAGAAGCTGTATCAG GTCCACGAGCCCCCCCACCTCACATGATCGTGTGTCATGAAAGAAGGGGA ACAGAGCTCGTGA		FLNC	ENSG00000128591.16	transcript	ENST00000325888.13	protein_coding					3938		chr7	TogoVar
FMNL2_chr2_152330174_152654826	152489150	AGAAGAGT others(90): Show AGAAGAGTGCTGTCAACAAAAGAAGTGTTCCCTACAGTGGGGAAGAATTG AGGTTAGCAGAAAGGGTAAAACAAGAACAAAGTAATTCCTAGCCATCC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0152 a0001c0006t0001g0152	1	198	0.0051	-97	c.118 others(116): Show c.118-32786_118-32690delTGCTGTCAACAAAAGAAGTGTTCCCT ACAGTGGGGAAGAATTGAGGTTAGCAGAAAGGGTAAAACAAGAACAAAGT AATTCCTAGCCATCCGAAGAG		FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
GAA_chr17_80096581_80124881	80120285	CTCCCTTC others(90): Show CTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCC CCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTCACCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG03540.hp2 HG01891.hp1 HG02886.hp2 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0032 a0001c0007t0005g0032	3	414	0.0072	-97	c.95 others(107): Show c.955_*1051delTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCAC CTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCA TGTCACCTCCCT		GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding					405		chr17	TogoVar
GABRR2_chr6_89249464_89320299	89292363	TATATATA others(90): Show TATATATATATATATATCAGATATATATCGTATCTCTGATATATATATCA GATATATCGTATCTCTGATATATATATCAGATATATATCGTATCTCTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02717.hp1 others(2): Show HG02145.hp1 HG02258.hp1 HG02717.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004	a0001c0001t0003 a0001c0002t0001 a0001c0005t0011 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0005t0011 a0002c0003t0002 a0002c0004t0004	a0001c0001t0003g0287 a0001c0002t0001g0037 a0001c0005t0011g0308 others(2): Show a0001c0001t0003g0287 a0001c0002t0001g0037 a0001c0005t0011g0308 a0002c0003t0002g0115 a0002c0004t0004g0298	5	363	0.0138	-97	c.220 others(114): Show c.220+7299_220+7395delCAGAGATACGATATATATCTGATATATA TATCAGAGATACGATATATCTGATATATATATCAGAGATACGATATATAT CTGATATATATATATATAT		GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8						chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241806198	CCTCAGCC others(90): Show CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	312	0.0032	-97	c.20 others(108): Show c.2033_*2129delCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGG		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1912		chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298584	TAATTTAT others(90): Show TAATTTATATATACAATGTATATATTAATTTATATATACATTGTATATAT AATTTATATATACATTGTATATACAATTTATATATACATTGTATATAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0112 a0001c0001t0041g0112	1	211	0.0047	-97	c.976 others(114): Show c.976-2810_976-2714delATGTATATATTAATTTATATATACATTG TATATATAATTTATATATACATTGTATATACAATTTATATATACATTGTA TATACAATTTATATATACA		GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT9_chr12_132191372_132334589	132231106	GCCCCTAC others(90): Show GCCCCTACTGCCACACACTCCATGGGGCGACAGAGGAGACAGCGTGGAGC CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0146 a0001c0014t0003g0146	1	182	0.0055	-97	c.107 others(118): Show c.1077+16707_1077+16803delACTCCACGCTGTCTCCTCTGTCGC CCCATCGAGTGTGTGGCACTAGGGGCTCCACGCTGTCTCCTCTGTCGCCC CATGGAGTGTGTGGCAGTAGGGG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GGT1_chr22_24598193_24633996	24605069	ATATAATA others(90): Show ATATAATATATAAAGTATATTATATAATATGTATTATATTATATATTATA TAATATGTAATATATTATATAATATATAATATGTATTATATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	424	0.0024	-97	c.-42 others(116): Show c.-429+1547_-429+1643delATATATAAAGTATATTATATAATATG TATTATATTATATATTATATAATATGTAATATATTATATAATATATAATA TGTATTATATTATATATTATA		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GK_chrX_30648423_30736462	30733683	AGAAATTA others(90): Show AGAAATTACATCCTTCCTTAGCCATTCACTTGTTATGAACAGAATTTAGA AGACTCAAAAAAGAAATGCCCATGTGTTTTCTATATAGTACCTTCCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03098.hp1 HG03486.hp2 HG01884.hp1 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0015 a0001c0001t0010 a0001c0004t0015	a0001c0001t0010g0111 a0001c0001t0010g0164 a0001c0004t0015g0112 a0001c0001t0010g0111 a0001c0001t0010g0164 a0001c0004t0015g0112	3	284	0.0106	-97	c.49 others(108): Show c.4942_*5038delGAAATTACATCCTTCCTTAGCCATTCACTTGTTA TGAACAGAATTTAGAAGACTCAAAAAAGAAATGCCCATGTGTTTTCTATA TAGTACCTTCCAT		GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding					2222		chrX	TogoVar
GLUD1_chr10_87045202_87099843	87080960	AGAGGGAG others(90): Show AGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG00639.hp2 others(36): Show HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01516.hp2 HG01975.hp1 HG02148.hp2 HG02451.hp1 HG02523.hp1 HG02735.hp2 HG02970.hp2 HG03041.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03942.hp1 NA18522.hp1 NA18956.hp1 NA18963.hp1 NA18970.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18989.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19009.hp1 NA19012.hp2 NA19057.hp2 NA19060.hp1 NA19068.hp1 NA19070.hp1 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0020 others(30): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0009g0297	39	332	0.1175	-97	c.446 others(114): Show c.446-4401_446-4305delCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTC		GLUD1	ENSG00000148672.10	transcript	ENST00000277865.5	protein_coding	1/12						chr10	TogoVar
GMPR_chr6_16233587_16300549	16265584	TCCAATCA others(90): Show TCCAATCAGCACTCTGTAAAAATAGCACCAAGCAGCGCTGTGTCTAGCTA AAGCAGCACTGTGTCTAGCTAAAGCAGCGCTGTGTCTAGCTAAACGCA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp2 HG01074.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0235 a0001c0001t0003g0234 a0001c0001t0002g0235 a0001c0001t0003g0234	2	342	0.0058	-97	c.466 others(114): Show c.466-8809_466-8713delTAGCACCAAGCAGCGCTGTGTCTAGCTA AAGCAGCACTGTGTCTAGCTAAAGCAGCGCTGTGTCTAGCTAAACGCACC AATCAGCACTCTGTAAAAA		GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar

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