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
CNTN4_chr3_2093866_3062959	2881554	AAGTGAGT others(131): Show AAGTGAGTGAAATCATTTCTCTTTGTGATTGCACCTGTCCCCCATCCAGT GAGTGAAATCATTTCTCTTTGTGATTGCACCTGTCCCCCATCCAGTGAGT GAAATCATTTCTCTTTGTGATTGCACCTGTCCCCCATCC	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02602.hp1 HG01169.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0049 a0001c0003t0003g0046 a0001c0001t0001g0049 a0001c0003t0003g0046	2	116	0.0172	-138	c.653 others(17): Show c.653-1451_653-1314del		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	8/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL18A1_chr21_45400165_45518720	45486335	GGGGAGCC others(131): Show GGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTC TCTTCTCCCCTCGCCTGCCCGGGAGCCAGGGCTGGTCCCAGGGTCCTGAG CCTCCTCTCCTCTCTCCTCTCTTTTCCCCTCGCCTGCCC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0057 a0004c0057	a0004c0057t0002 a0004c0057t0002	a0004c0057t0002g0035 a0004c0057t0002g0035	1	292	0.0034	-138	c.170 others(17): Show c.1702-465_1702-328del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45486396	CGCCTGCC others(131): Show CGCCTGCCCGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCT CTCTCCTCTCTTTTCCCCTCGCCTGCCCGGGAGCCAGGGCTGGTCCCAGG GTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0166 a0001c0003t0008g0166	1	292	0.0034	-138	c.170 others(17): Show c.1702-441_1702-304del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134437	CAGGTTTA others(131): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGG GTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0267 a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0267	3	372	0.0081	-138	c.49 others(11): Show c.4947_*5084del		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding					4637		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134437	CAGGTTTA others(131): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGG GTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02897.hp2 HG02886.hp2 HG02897.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0246 a0001c0007t0003g0264 a0001c0007t0003g0246 a0001c0007t0003g0264	2	364	0.0055	-138	c.18 others(11): Show c.1886_*2023del		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding					1590		chr21	TogoVar
CPNE7_chr16_89570758_89602246	89588068	CCCGTGTT others(131): Show CCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18977.hp1 HG03579.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0022 a0001c0002t0003g0018 a0001c0002t0002g0022 a0001c0002t0003g0018	2	348	0.0058	-138	c.928 others(15): Show c.928-605_928-468del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CSMD1_chr8_2930361_4999914	3795886	CATGTACA others(131): Show CATGTACAGATATATATATCATGTACAGATATAGATATCTATCATGTACA GATATAGATATCTATCATGTACAGATATAGATATCTATCATGTACAGATA TAGATATATATCTATCATGTATATAGATATATATCATGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp1 HG02257.hp2 HG03579.hp1	a0002 a0006 a0002 a0006	a0002c0075 a0006c0116 a0002c0075 a0006c0116	a0002c0075t0026 a0006c0116t0004 a0002c0075t0026 a0006c0116t0004	a0002c0075t0026g0051 a0006c0116t0004g0039 a0002c0075t0026g0051 a0006c0116t0004g0039	2	126	0.0159	-138	c.819 others(19): Show c.819-41982_819-41845del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CYTH1_chr17_78669048_78787273	78760447	ATATATAT others(131): Show ATATATATACATACATATATATATGTATATATATGTATGTATATATATAT ACATATATATGTATATATATGTATATATATATATACATACATATATATGT ATATATATATGTATATATATATACACATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG02027.hp1 others(23): Show HG00423.hp2 HG00558.hp1 HG02027.hp1 HG02071.hp2 HG02135.hp2 HG02165.hp2 NA18945.hp1 NA18946.hp2 NA18956.hp1 NA18960.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18978.hp1 NA18981.hp1 NA19003.hp2 NA19005.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19076.hp2 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 others(23): Show a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091	26	378	0.0688	-138	c.22+ others(17): Show c.22+21617_22+21754del		CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13						chr17	TogoVar
DHX35_chr20_38957344_39044721	38960608	TACGAATG others(131): Show TACGAATGTGAATGTGACATGGTCCTCGTCCTCAGTAAGTTCCCTGTGTA ATAGTGGCGGCAGGTAAACTACAGATCAACTAAAACTAAGCCTAAAGCAT GATGTTTATCTACACTCAATAGGCACTTGTTACTGGGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	290	0.0035	-138	c.-17 others(11): Show c.-1759_-1622del		DHX35	ENSG00000101452.15	transcript	ENST00000252011.8	protein_coding					1735		chr20	TogoVar
DLC1_chr8_13078361_13519851	13453401	TGTGTATA others(131): Show TGTGTATATATATATATATATATGTGTATATATATATGTATATATATACA TATATATATGTATATATATACATATATATGTATATATATACATATATATA TGTATATATATATACATATATATATATGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp2 NA20300.hp2 HG02258.hp2 HG03098.hp2 NA20300.hp2	a0008 a0012 a0008 a0012	a0008c0010 a0012c0026 a0008c0010 a0012c0026	a0008c0010t0013 a0012c0026t0015 a0008c0010t0013 a0012c0026t0015	a0008c0010t0013g0190 a0008c0010t0013g0191 a0012c0026t0015g0192 a0008c0010t0013g0190 a0008c0010t0013g0191 a0012c0026t0015g0192	3	212	0.0142	-138	c.102 others(21): Show c.1023+45510_1023+45647del		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17						chr8	TogoVar
DLGAP1_chr18_3491032_4460307	3674754	CTCACCTC others(131): Show CTCACCTCCACTATCAGTACCGAGTCCACCACAATCATCACCCCCATTCA CCTCCACTATCAGTACCGAGTCCACCACAATCATCACCCCCATTCACCTC CACTATCAGTACCGAGTCCACCACAATCATCACCCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02155.hp2 HG02280.hp2 others(6): Show HG02135.hp2 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG03453.hp1 HG03516.hp1 HG03669.hp2 HG04184.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0039 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0039 a0001c0002t0024 a0001c0003t0011 a0001c0003t0021 a0001c0004t0001 a0001c0004t0002 a0001c0004t0036	a0001c0001t0002g0008 a0001c0001t0004g0026 a0001c0001t0039g0056 others(6): Show a0001c0001t0002g0008 a0001c0001t0004g0026 a0001c0001t0039g0056 a0001c0002t0024g0034 a0001c0003t0011g0010 a0001c0003t0021g0027 a0001c0004t0001g0012 a0001c0004t0002g0035 a0001c0004t0036g0070	9	80	0.1125	-138	c.159 others(21): Show c.1591+54243_1591+54380del		DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12						chr18	TogoVar
DLGAP2_chr8_732628_1713476	1164112	GCCCGCAG others(131): Show GCCCGCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCC CAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGC CCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	40	0.0250	-138	c.74- others(17): Show c.74-94735_74-94598del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1393166	AGAGTCGT others(131): Show AGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-138	c.107 others(21): Show c.107-108170_107-108033del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1398334	ATCCTCCG others(131): Show ATCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-138	c.107 others(21): Show c.107-103025_107-102888del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1403789	AGTGTATT others(131): Show AGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0028 a0002c0001t0005g0028	1	40	0.0250	-138	c.107 others(19): Show c.107-97555_107-97418del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1406067	TGTCCTCC others(131): Show TGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTC CTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCC AGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-138	c.107 others(19): Show c.107-95261_107-95124del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1407000	CCCTCCTT others(131): Show CCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTTGTCCTCCGGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTT GTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-138	c.107 others(19): Show c.107-94351_107-94214del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1407153	GGAGTCGT others(131): Show GGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAG TCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02698.hp1 HG02071.hp2 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0001 a0001c0012 a0002c0001	a0001c0012t0004 a0002c0001t0003 a0001c0012t0004 a0002c0001t0003	a0001c0012t0004g0036 a0002c0001t0003g0017 a0001c0012t0004g0036 a0002c0001t0003g0017	2	40	0.0500	-138	c.107 others(19): Show c.107-94197_107-94060del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF5_chr7_721699_791475	739046	CACCTGTT others(131): Show CACCTGTTTGGGCTGGGGGCTGGCTGCAGTCTGGCTTGTCTCAGCCACGC CCTCTGCCCCATCACTGTATACCTGTTTGGGCTGGGGGCTGGCTGCAGTC TGGCTTGTCTCAGCCACGCCCTCTGCCCCATCACTGTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(146): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0009 a0010 a0013 a0015 a0016	a0001c0001 a0002c0002 a0002c0008 others(9): Show a0001c0001 a0002c0002 a0002c0008 a0002c0022 a0002c0026 a0003c0003 a0005c0007 a0009c0023 a0010c0015 a0013c0020 a0015c0014 a0016c0027	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(15): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001 a0002c0002t0003 a0002c0002t0013 a0002c0002t0015 a0002c0008t0001 a0002c0022t0001 a0002c0026t0001 a0003c0003t0003 a0003c0003t0008 a0005c0007t0003 a0009c0023t0001 a0010c0015t0003 a0013c0020t0001 a0015c0014t0001 a0016c0027t0003	a0001c0001t0002g0322 a0001c0001t0004g0157 a0001c0001t0004g0158 others(128): Show a0001c0001t0002g0322 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0168 a0001c0001t0004g0315 a0001c0001t0006g0073 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0121 a0002c0002t0001g0182 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0230 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0307 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0313 a0002c0002t0001g0319 a0002c0002t0003g0272 a0002c0002t0013g0199 a0002c0002t0015g0305 a0002c0008t0001g0271 a0002c0008t0001g0277 a0002c0022t0001g0306 a0002c0026t0001g0211 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0110 a0003c0003t0003g0112 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0116 a0003c0003t0003g0117 a0003c0003t0003g0122 a0003c0003t0003g0123 a0003c0003t0003g0124 a0003c0003t0003g0125 a0003c0003t0003g0126 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0132 a0003c0003t0003g0133 a0003c0003t0003g0134 a0003c0003t0003g0135 a0003c0003t0003g0136 a0003c0003t0003g0137 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0146 a0003c0003t0003g0147 a0003c0003t0003g0148 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0153 a0003c0003t0003g0156 a0003c0003t0003g0178 a0003c0003t0003g0179 a0003c0003t0003g0188 a0003c0003t0003g0190 a0003c0003t0003g0191 a0003c0003t0003g0193 a0003c0003t0003g0214 a0003c0003t0008g0100 a0003c0003t0008g0154 a0003c0003t0008g0155 a0003c0003t0008g0180 a0005c0007t0003g0142 a0009c0023t0001g0286 a0010c0015t0003g0181 a0013c0020t0001g0011 a0015c0014t0001g0194 a0016c0027t0003g0141	149	378	0.3942	-138	c.781 others(17): Show c.781-1715_781-1578del		DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH9_chr17_11593470_11974748	11694639	TTGCTTTC others(131): Show TTGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTC GCTTTCTCGCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTT TCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0080 a0080	a0080c0147 a0080c0147	a0080c0147t0001 a0080c0147t0001	a0080c0147t0001g0007 a0080c0147t0001g0007	1	178	0.0056	-138	c.487 others(17): Show c.4872+194_4872+331del		DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68					INFO_REALIGN_3_PRIME	chr17	TogoVar
ELF1_chr13_40926924_41024316	41003395	AAATTAAA others(131): Show AAATTAAATCCTTAAATTTGACTTTGATCATTTAGATTTATTGTTTAAAA AGACATAGTAACTTCTATCAATTTTTGGCTGGAAAAACTGTTAATATATA AACTTTATAAGACATTCCTAGAATGGCCAGATCTAAGCT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00673.hp1 others(53): Show HG00438.hp2 HG00597.hp1 HG00673.hp1 HG01106.hp2 HG01255.hp2 HG01884.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02056.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02738.hp1 HG02965.hp2 HG03041.hp2 HG03239.hp1 HG03486.hp2 HG03831.hp2 HG04228.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18971.hp1 NA18972.hp2 NA18979.hp1 NA18985.hp2 NA18997.hp1 NA18999.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19089.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0001c0003 a0001c0013 others(3): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0007c0012 a0009c0010	a0001c0001t0001 a0001c0001t0011 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0003t0001 a0001c0013t0001 a0002c0002t0002 a0007c0012t0001 a0009c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0317 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0011g0324 a0001c0003t0001g0353 a0001c0013t0001g0181 a0002c0002t0002g0351 a0007c0012t0001g0137 a0009c0010t0001g0278	56	362	0.1547	-138	c.-22 others(21): Show c.-229+15695_-229+15832del		ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8						chr13	TogoVar
ENC1_chr5_74622409_74645728	74639192	GAGGAAAT others(131): Show GAGGAAATACTTGCTTTCTGGTTTAAAACTGTGCAAACCTCAAAATATCA GCAGAAACCATGTATACAAGTCACTGAACACACCTTCAACATAAAATGAA TCATCTTTCGAGCATTTTTAAGCCCCCAGAGAAATCACA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0047 a0001c0001t0015g0047	1	430	0.0023	-138	c.-14 others(16): Show c.-14+977_-14+1114del		ENC1	ENSG00000171617.16	transcript	ENST00000302351.9	protein_coding	1/2						chr5	TogoVar
ENOSF1_chr18_665318_717630	666969	TGATGGAG others(131): Show TGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGAT GGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01928.hp1 HG01106.hp2 HG01928.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0001 a0001c0001t0002 a0002c0005t0001	a0001c0001t0002g0160 a0002c0005t0001g0209 a0001c0001t0002g0160 a0002c0005t0001g0209	2	418	0.0048	-138	c.71 others(11): Show c.7198_*7335del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3348		chr18	TogoVar
ERICH1_chr8_659200_736224	659637	GGTGTGCA others(131): Show GGTGTGCACTGAGCATCCTGGGGAGGGGATGACCATCGAGATCTCCGGTG TGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCA CTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00738.hp1 others(81): Show HG00140.hp2 HG00544.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02738.hp2 HG02895.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03516.hp2 HG03654.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 NA18943.hp1 NA18944.hp2 NA18951.hp2 NA18969.hp2 NA18970.hp2 NA18977.hp2 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0009 a0009c0012 a0001c0001 a0001c0009 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0009t0001 a0009c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(78): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0002g0012 a0001c0001t0002g0274 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0003g0108 a0001c0009t0001g0120 a0001c0009t0001g0234 a0009c0012t0001g0119	84	378	0.2222	-138	c.48 others(11): Show c.4828_*4965del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding					4562		chr8	TogoVar
ERICH1_chr8_659200_736224	675212	TGAGGACA others(131): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0326 a0008c0016t0002g0326	1	378	0.0027	-138	c.305 others(17): Show c.305-1303_305-1166del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675460	TGAGGACA others(131): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01943.hp2 HG01993.hp1 others(5): Show HG01934.hp1 HG01943.hp2 HG01993.hp1 HG02148.hp2 HG02897.hp2 HG03195.hp2 HG03471.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0087 a0001c0001t0001g0115 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317	8	378	0.0212	-138	c.305 others(17): Show c.305-1551_305-1414del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
EXOC3_chr5_438176_472290	467387	GCTCAGCC others(131): Show GCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTC AGCCTAGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCC TAGAGGGTGCCTTCCTGATCCCCTCATGTCTGACATCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02109.hp2 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0016 a0001c0003t0002g0188 a0001c0003t0002g0016 a0001c0003t0002g0188	2	418	0.0048	-138	c.49 others(9): Show c.490_*627del		EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding					98		chr5	TogoVar
EXOC3_chr5_438176_472290	468158	GTCTGACA others(131): Show GTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCT GACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACA TCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0066 a0001c0002t0003g0066	1	418	0.0024	-138	c.12 others(11): Show c.1261_*1398del		EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding					869		chr5	TogoVar
FAF2_chr5_176443385_176515074	176477107	CTTTTTTT others(131): Show CTTTTTTTTTTTTTTTTTTAAGTTGAGGCGGGGTTTCACTGTGTTAGCCA GGATGGTCTGGATCTCCTGACCTCATGATCTGACCGCCTCGGCCTCCCAA AGTGCTGAGATTACAGGCATGAGCCACCGTGCCCGGCCT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19072.hp2 NA18993.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0339 a0001c0001t0002g0335 a0001c0001t0002g0339	2	372	0.0054	-138	c.64- others(15): Show c.64-2062_64-1925del		FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM161A_chr2_61819848_61859060	61848850	TTATATAT others(131): Show TTATATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATTTATATATATTTATATATATATATTTATATATAT TTATATATATATTTATATATATATATATTTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	400	0.0025	-138	c.183 others(17): Show c.183+4871_183+5008del		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6						chr2	TogoVar
FAM210A_chr18_13658347_13731558	13674941	CTTATTTC others(131): Show CTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTA TTTCCTGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTC CTGTTTCCTGATTATTAACATTCCTGAGCCCCAACTTCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(86): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02886.hp2 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp1 HG04204.hp2 NA18906.hp1 NA18942.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18968.hp1 NA18972.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18999.hp1 NA19004.hp1 NA19058.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0048 a0001c0003t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(79): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0005g0147 a0001c0001t0005g0203 a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0056 a0001c0001t0007g0057 a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0008g0163 a0001c0001t0008g0166 a0001c0001t0008g0169 a0001c0001t0013g0049 a0001c0001t0016g0030 a0001c0001t0016g0031 a0001c0001t0020g0007 a0001c0001t0025g0290 a0001c0001t0026g0029 a0001c0001t0028g0038 a0001c0001t0048g0289 a0001c0003t0001g0034 a0003c0005t0001g0189	89	326	0.2730	-138	c.474 others(17): Show c.474-3106_474-2969del		FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3						chr18	TogoVar
FAM210A_chr18_13658347_13731558	13675161	CCCCAGCT others(131): Show CCCCAGCTTCTTTATTTCCTGTTTCCTGATTATTAACATTCCTGAGCCCT GGCTTCTTTATTTCCTGTTTCCTGATTATTAACATTCCTGAGCCCCGACT TCATTATTTCCAGTTTCCTGATTATTAACATTCCTGAGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18747.hp1 HG01884.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0255 a0001c0001t0009g0040 a0001c0001t0001g0255 a0001c0001t0009g0040	2	326	0.0061	-138	c.474 others(17): Show c.474-3326_474-3189del		FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3						chr18	TogoVar
FLII_chr17_18239815_18263738	18263522	ACTCTGGG others(131): Show ACTCTGGGGCAATGAGAACTCGTCACCAAGAGCTCACTATATGTGAGGAT CTGAACTGAGTGCCTTCTCAGGTGCCACTGCAGGTGAGAAAAGTGAGGCC CTGGGACATCACACAGCTAGTTCTCGGTGGCGTTTTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0152 a0001c0032t0001g0152	1	412	0.0024	-138	c.-49 others(11): Show c.-4970_-4833del		FLII	ENSG00000177731.16	transcript	ENST00000327031.9	protein_coding					4785		chr17	TogoVar
FNDC11_chr20_63549159_63561695	63559442	CAGGGTCA others(131): Show CAGGGTCAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAG GTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGA GTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03834.hp2 HG03654.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	416	0.0048	-138	c.28 others(11): Show c.2823_*2960del		FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding					2748		chr20	TogoVar
FOXN3_chr14_89151177_89422233	89361062	TCCAGCAC others(131): Show TCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCACCAC CTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCA CTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCA	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0068 a0001c0001t0054g0068	1	230	0.0044	-138	c.544 others(19): Show c.544-10392_544-10255del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361183	CCACCACC others(131): Show CCACCACCACCTCCAGCACCACCACCACCACCTCCACCACCACCACCTCC ACCACCACCACCTCCAGCACCACCTCCACCACCACCACCACCTCCACCAC CACCACCTCCAGCACCACCTCCACCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0082 a0001c0001t0058g0082	1	230	0.0044	-138	c.544 others(19): Show c.544-10513_544-10376del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362342	GCACCACC others(131): Show GCACCACCACCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACC ACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCAC CTCCAGCACCAGCTCCACCACCTCCTCCTCCACCACCAC	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0080 a0001c0001t0007g0080	1	230	0.0044	-138	c.544 others(19): Show c.544-11672_544-11535del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362395	TCCAGCAC others(131): Show TCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTC CAGCACCAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCA CCATCTCCACCACCACCACCACCATCTCTACGACCACCA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0048 a0001c0001t0029g0048	1	230	0.0044	-138	c.544 others(19): Show c.544-11725_544-11588del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FTCD_chr21_46131779_46160579	46134437	CAGGTTTA others(131): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGG GTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02897.hp1 HG02886.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0006 a0001c0001t0006 a0001c0002t0006	a0001c0001t0006g0124 a0001c0002t0006g0111 a0001c0001t0006g0124 a0001c0002t0006g0111	2	230	0.0087	-138	c.24 others(11): Show c.2412_*2549del		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2341		chr21	TogoVar
GAL3ST2_chr2_241771822_241809287	241805902	CTCCCCCC others(131): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02683.hp1 HG03017.hp1 others(4): Show HG00642.hp2 HG02683.hp1 HG03017.hp1 HG03098.hp1 NA18939.hp2 NA18952.hp1 NA19060.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0059 a0001c0001t0002g0178 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0059 a0001c0001t0002g0178 a0002c0002t0001g0099 a0002c0002t0002g0020 a0003c0003t0001g0067 a0004c0004t0001g0119	7	314	0.0223	-138	c.17 others(11): Show c.1737_*1874del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1616		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805941	CTCCCCCC others(131): Show CTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGAC CTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	314	0.0032	-138	c.17 others(11): Show c.1776_*1913del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1655		chr2	TogoVar
GAS6_chr13_113815549_113869076	113829001	TCTCAGGG others(131): Show TCTCAGGGAGACCACCTGATCCTCACCTGGGCCAAGAGGGTCTCAATCTC AGGCAGACCACATGATCCTCACCTGGGCCAAGAGGGTCCCGATCTCAGGG AGGCCACCTGATCCTCACCTGGGCCAAGAGGGTCCCGAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	143	0.0070	-138	c.114 others(17): Show c.1144-428_1144-291del		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14						chr13	TogoVar
GDF2_chr10_47317454_47332588	47329437	GTGAGTGA others(131): Show GTGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGCGGTGTGTGCAC CCTGGGATGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGTGTGTG CACACTGAGGGGGGTGAGTGATGTGTGTGCACACTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0017 a0001c0001t0012g0017	1	424	0.0024	-138	c.36 others(11): Show c.3654_*3791del		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					1850		chr10	TogoVar
GIPC1_chr19_14472762_14501127	14482200	GGTCGTCA others(131): Show GGTCGTCAGTTTTGCACAATCGACTGGGATGCAGGCCTCTCAATCCATCC ATCCAATCAATCCATCCAGCCCTGGCCTCCCACAGTCCATTGGAGCTCAG GTCTCTCAGTGCCTGTTGGGAACTCAGCATCCACCCCTA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0319 a0001c0001t0003g0319	1	444	0.0023	-138	c.288 others(15): Show c.288+351_288+488del		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	4/8						chr19	TogoVar
GMDS_chr6_1618806_2250605	1905483	GCCTGTGC others(131): Show GCCTGTGCATCTGCATGTGGGGCCAGCACATAGCTGTGGGTGCTGGCGTG TAGGTTGGACCTCAAAGGTGCCTGTGCATCTGCATGTGGGGCCAGCACAT AGCTGTGGGTGTTGGTGTGTAGGTGGGACCTCAAAGGTA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	166	0.0060	-138	c.771 others(19): Show c.771+24482_771+24619del		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10						chr6	TogoVar
GOLGA6L22_chr15_22453903_22474226	22465811	GAAGATGT others(131): Show GAAGATGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATAC GGGAGCAGGAGGAGATGTGGAGGGAGGAAGAGAAGATGCATGAGCAGGAG AAGATATGGGAGGAGGAGAAGAGGCAGGAGCAGGAGGAT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02155.hp2 HG02886.hp1 HG02886.hp2 others(1): Show HG02155.hp2 HG02886.hp1 HG02886.hp2 HG03041.hp2	a0000 a0041 a0051 others(1): Show a0000 a0041 a0051 a0052	a0000c0066 a0041c0054 a0051c0065 others(1): Show a0000c0066 a0041c0054 a0051c0065 a0052c0067	a0000c0066t0003 a0041c0054t0003 a0051c0065t0004 others(1): Show a0000c0066t0003 a0041c0054t0003 a0051c0065t0004 a0052c0067t0003	a0000c0066t0003g0055 a0041c0054t0003g0058 a0051c0065t0004g0054 others(1): Show a0000c0066t0003g0055 a0041c0054t0003g0058 a0051c0065t0004g0054 a0052c0067t0003g0061	4	226	0.0177	-138	c.159 others(9): Show c.1597_1734del	p.Ile others(13): Show p.Ile533_Lys578del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1688/4401	1597/2565	533/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA8A_chr15_34374068_34442808	34437576	CCGCGCCG others(131): Show CCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTC GCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCT CGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0039 a0039	a0039c0029 a0039c0029	a0039c0029t0100 a0039c0029t0100	a0039c0029t0100g0157 a0039c0029t0100g0157	1	245	0.0041	-138	c.-15 others(11): Show c.-1528_-1391del		GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	1/25				47886		chr15	TogoVar
GPC6_chr13_93221807_94413020	94392631	GTTGGTCA others(131): Show GTTGGTCAGGCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCTCTTG GTCAGGCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCTCTTGGTCA GGCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCTC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01074.hp1 HG01167.hp1 others(47): Show HG00558.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04228.hp2 NA19043.hp1 NA19043.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0036 a0001c0003t0003 a0001c0003t0014 a0001c0003t0026 a0001c0003t0030 a0002c0002t0003 a0002c0002t0033 a0003c0004t0003	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0026 others(47): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0002g0017 a0001c0001t0002g0047 a0001c0001t0004g0033 a0001c0001t0004g0042 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0005g0050 a0001c0001t0005g0057 a0001c0001t0005g0062 a0001c0001t0006g0025 a0001c0001t0006g0068 a0001c0001t0006g0072 a0001c0001t0007g0020 a0001c0001t0007g0034 a0001c0001t0007g0052 a0001c0001t0009g0016 a0001c0001t0009g0038 a0001c0001t0010g0051 a0001c0001t0010g0059 a0001c0001t0012g0003 a0001c0001t0013g0030 a0001c0001t0013g0055 a0001c0001t0016g0018 a0001c0001t0016g0035 a0001c0001t0019g0074 a0001c0001t0020g0061 a0001c0001t0021g0053 a0001c0001t0022g0040 a0001c0001t0027g0005 a0001c0001t0029g0007 a0001c0001t0032g0027 a0001c0001t0036g0001 a0001c0003t0003g0063 a0001c0003t0014g0021 a0001c0003t0026g0006 a0001c0003t0030g0024 a0002c0002t0003g0011 a0002c0002t0033g0041 a0003c0004t0003g0054 a0003c0004t0003g0058	50	76	0.6579	-138	c.129 others(19): Show c.1290-5742_1290-5605del		GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
HACL1_chr3_15555699_15606569	15592880	ACGCACAT others(131): Show ACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATAC ACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGT GTATACACATGTACGCACATGTGTGCGTGTATACACATG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02071.hp2 HG02135.hp2 others(15): Show HG00597.hp1 HG02071.hp2 HG02135.hp2 HG02145.hp2 HG02965.hp2 HG02976.hp2 NA18612.hp1 NA18747.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18975.hp1 NA18985.hp1 NA19055.hp2 NA19074.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0057 a0001c0001t0001g0104 a0001c0001t0001g0137 others(15): Show a0001c0001t0001g0057 a0001c0001t0001g0104 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0152 a0001c0004t0001g0153 a0001c0004t0001g0154	18	428	0.0421	-138	c.228 others(17): Show c.228-1338_228-1201del		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
HDAC9_chr7_18490749_19007416	18786658	CTCCCTTC others(131): Show CTCCCTTCCTCCCTTCCTTCCTTTTTGCTCACATATCCCTTTCTGTGTCC TCGGTTTCTGTTGCATGCGCCTCTTGAGTCTAGCTTTCTTTCCTTCCTTT TCTTTTTTCTCTCTTTCTTTCTTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0111 a0001c0002t0017g0112 a0001c0002t0017g0111 a0001c0002t0017g0112	2	156	0.0128	-138	c.221 others(19): Show c.2215-6685_2215-6548del		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr7	TogoVar

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