Joint Open Genome and Omics Platform (JoGo)

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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
CHMP6_chr17_80986841_81005133	80994696	TGGGGCCC others(110): Show TGGGGCCCGGGCAGCGTGGGCACCCTGTCGGCTGGGGTGGGGGGCCCGGG CAGCGTGGGCACCCTGTCGGCTGGGGTGGGGGGCCCGGGCAGCGTGGGCA CCCTGTCGGCTGGGGTGG	T T	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	438	0.0023	-117	c.174 others(14): Show c.174-159_174-43del		CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
CHSY1_chr15_101170727_101257048	101223644	GAGGACTT others(110): Show GAGGACTTCCACACTGGGACTCAGGCCTCGTCTACTACAGAGGACTTCCA CACTGGGACTCAGGCCTCGTCTACTACAGAGGACTTCCACACTGGGACTC AGGCCTCGTCTACTACAA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA20905.hp1 HG03209.hp1 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0265 a0001c0004t0003g0281 a0001c0004t0003g0265 a0001c0004t0003g0281	2	422	0.0047	-117	c.816 others(19): Show c.816+11321_816+11437del		CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2						chr15	TogoVar
CLN8_chr8_1758789_1791570	1763464	CGCGCCCC others(110): Show CGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCG CCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCC GCCGCGCCCCGCCCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0171 a0001c0001t0067g0171	1	413	0.0024	-117	c.-54 others(9): Show c.-544_-428del		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					324		chr8	TogoVar
CLPTM1L_chr5_1312752_1350099	1328277	ATCCAGCT others(110): Show ATCCAGCTCCTCCTCTACAGGATACATTTCATCCAGCTACTCCTCTACGG ACACATTTCATCCAGCTCCTCCTCTACGGACACATTTCATCCAGCTCCTC CTCTACAGGGACATTTCT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	370	0.0027	-117	c.108 others(19): Show c.1080+1886_1080+2002del		CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16						chr5	TogoVar
CNTNAP2_chr7_146111801_148425998	146725085	GTGGACCT others(110): Show GTGGACCTTCACTTGCAGGCTTATCACTCCAGTCTCGGCCTCCATGCTCA CTCACATGGTGGTCTCCTCATTGTGTATATCTGTGTCTCTTCTTACAAGG ACACTGGTCATATAGGAT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	40	0.0250	-117	c.98- others(17): Show c.98-49184_98-49068del		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL5A1_chr9_134636803_134849843	134644241	CGGGGAGG others(110): Show CGGGGAGGGGGCGGCTGTCCACTGGAGATGCAGGCGCTGGGGGGAGGGGG CGGCTGTCCACTGGAGATGCAGGCACTGGGGGAAGGGGGCGGCTGTCCAC TGGAGATGCAGGCGCTGG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02717.hp2 others(2): Show HG02451.hp1 HG02647.hp1 HG02717.hp2 HG03471.hp1 HG06807.hp1	a0001 a0015 a0001 a0015	a0001c0003 a0001c0005 a0015c0060 a0001c0003 a0001c0005 a0015c0060	a0001c0003t0003 a0001c0003t0010 a0001c0005t0009 others(2): Show a0001c0003t0003 a0001c0003t0010 a0001c0005t0009 a0001c0005t0014 a0015c0060t0007	a0001c0003t0003g0255 a0001c0003t0010g0259 a0001c0005t0009g0256 others(2): Show a0001c0003t0003g0255 a0001c0003t0010g0259 a0001c0005t0009g0256 a0001c0005t0014g0258 a0015c0060t0007g0257	5	272	0.0184	-117	c.109 others(17): Show c.109+2019_109+2135del		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
CRAMP1_chr16_1607360_1682908	1661321	AGGTCCTG others(110): Show AGGTCCTGGCCTCCTGGGTGACGGAGGGGGCCGGGTGAGGGGTCCTGGCC TCCTGGGTGACGGAGGGGGCCGGGTGAGGGGTCCTGGCCTCCTGGGTGAC GGAGGGGGCCGGGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0021 a0001c0022t0021	a0001c0022t0021g0033 a0001c0022t0021g0033	1	332	0.0030	-117	c.241 others(18): Show c.2414-1061_2414-945del		CRAMP1	ENSG00000007545.16	transcript	ENST00000397412.8	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
DLGAP2_chr8_732628_1713476	1419324	TGTGTGTG others(110): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGGTTTTGTTTTCCTTTTATA AATGGTTATTTTTGGTTGACTCACAGTAATTGTACATATTTGTGGGATAC TGTGTTACACTCTGATAC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03492.hp1 HG02071.hp2 HG03492.hp1	a0001 a0003 a0001 a0003	a0001c0014 a0003c0007 a0001c0014 a0003c0007	a0001c0014t0004 a0003c0007t0007 a0001c0014t0004 a0003c0007t0007	a0001c0014t0004g0036 a0003c0007t0007g0038 a0001c0014t0004g0036 a0003c0007t0007g0038	2	40	0.0500	-117	c.107 others(19): Show c.107-82013_107-81897del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32452282	AGAAAGGA others(110): Show AGAAAGGAAAGGAAAAGGAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAA AGTGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0098 a0002c0012t0002g0098	1	126	0.0079	-117	c.360 others(19): Show c.3603+2263_3603+2379del		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78						chrX	TogoVar
DNAH9_chr17_11593470_11974748	11694695	TCGCTTTC others(110): Show TCGCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTC TTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0078 a0078	a0078c0085 a0078c0085	a0078c0085t0001 a0078c0085t0001	a0078c0085t0001g0161 a0078c0085t0001g0161	1	178	0.0056	-117	c.487 others(17): Show c.4872+249_4872+365del		DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68						chr17	TogoVar
DYNC2I1_chr7_158851558_158951189	158863788	GGGGGAGC others(110): Show GGGGGAGCGGGACGTCCTTAGCTCTGGGTGTTTGGTGGGGAGCCGGACGT CCTTAGCTCCGGGTGTTGGAGGGTGTTGGAGGGGGGAGCGGGACGTCCTT AGCTCCGTGTGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	274	0.0037	-117	c.16- others(15): Show c.16-6043_16-5927del		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
ELFN2_chr22_37362960_37432479	37399480	GGCCCACC others(110): Show GGCCCACCTCTCCCACCTCCACCGACCACGGGGACCACCAGCCCACCTCT CCCACCTCCACCGACCACGGGGACCACCGGCCCACCTCTCCCACCTCCAC CGACCACGGGGACCACCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG02145.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0021 a0001c0003t0001 a0001c0002t0021 a0001c0003t0001	a0001c0002t0021g0197 a0001c0003t0001g0177 a0001c0003t0001g0200 others(1): Show a0001c0002t0021g0197 a0001c0003t0001g0177 a0001c0003t0001g0200 a0001c0003t0001g0201	4	334	0.0120	-117	c.-46 others(21): Show c.-463+18172_-463+18288del		ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2						chr22	TogoVar
EML1_chr14_99788413_99947060	99927990	ATGGTGGT others(110): Show ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGA TGGTGGTGGTGGTGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0089 a0002c0001t0002g0089	1	288	0.0035	-117	c.190 others(19): Show c.1909+7164_1909+7280del		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
ENOSF1_chr18_665318_717630	667436	TGATGGTG others(110): Show TGATGGTGATGGTGATGGTGATGATGGAGATGGTGATGGTGATGGTGATG GTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAGATGGT GATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG03195.hp1 HG01884.hp2 HG02109.hp2 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0006 a0001c0006t0004g0298 a0001c0006t0004g0320 a0001c0006t0004g0006 a0001c0006t0004g0298 a0001c0006t0004g0320	3	418	0.0072	-117	c.67 others(11): Show c.6752_*6868del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2881		chr18	TogoVar
EPN2_chr17_19232366_19341715	19262537	ATGCAATA others(110): Show ATGCAATAAAGTTCACCATCAGCATAATCTTATTTTAGAACATTTTATTA CCCCCAAAAGCAACCCTGTACCCATTAAGCAGTCATTTCCCCTCCCATTC TCTCCAGCCCCTGGCAAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG01496.hp1 others(45): Show HG00438.hp2 HG00609.hp1 HG01496.hp1 HG01928.hp1 HG01952.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02602.hp1 HG02683.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG04115.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19066.hp1 NA19084.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0009 others(3): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0009 a0002c0002t0012 a0002c0002t0014 a0002c0002t0016	a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 others(45): Show a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0002c0002t0001g0001 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0009g0125 a0002c0002t0009g0137 a0002c0002t0012g0132 a0002c0002t0014g0126 a0002c0002t0016g0001	48	282	0.1702	-117	c.-29 others(21): Show c.-293-19299_-293-19183del		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXN3_chr14_89151177_89422233	89360774	TCCACCAC others(110): Show TCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCAC CTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCA CCTCCACCACCACCTCCA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03471.hp2 HG01975.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0057 a0001c0001t0001 a0001c0001t0057	a0001c0001t0001g0064 a0001c0001t0057g0018 a0001c0001t0001g0064 a0001c0001t0057g0018	2	230	0.0087	-117	c.544 others(18): Show c.544-10083_544-9967del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360941	CACCTCCA others(110): Show CACCTCCACCACCACCACCTCCAGCACCACCTCCACCACTACCACCTCCA GCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCACC ACCACCACCTCCAGCACT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	230	0.0044	-117	c.544 others(19): Show c.544-10250_544-10134del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361957	AGCACCAC others(110): Show AGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTC CACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCACCACCA CCTCCACCACTACCACCT	A A	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0017 a0001c0001t0022g0017	1	230	0.0044	-117	c.544 others(19): Show c.544-11266_544-11150del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362496	CATCTCCA others(110): Show CATCTCCACCACCACCACCACCATCTCTACGACCACCACCACCACCATCT CCACCACCACCTCCACCACCACCACCACCACCATCTCTACGACCACCACC ACCACCACCATCTCTACG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18945.hp1 NA20805.hp2 HG01175.hp1 NA18945.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0001 a0001c0001t0006 a0001c0001t0012	a0001c0001t0001g0134 a0001c0001t0006g0094 a0001c0001t0012g0145 a0001c0001t0001g0134 a0001c0001t0006g0094 a0001c0001t0012g0145	3	230	0.0130	-117	c.544 others(19): Show c.544-11805_544-11689del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FSHB_chr11_30226014_30240194	30236824	TTGGGAGG others(110): Show TTGGGAGGTCAAGGCAGGCAGATCACCAGGTCAGGAGTTCGAGACCAGCC TGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTG GGCATTGTGGTGCATGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01952.hp1 HG01981.hp2 others(12): Show HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp1 NA18947.hp2 NA18963.hp2 NA18974.hp1 NA18984.hp2 NA18990.hp2 NA19007.hp2 NA19059.hp1 NA19064.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	15	388	0.0387	-117	c.30 others(11): Show c.3025_*3141del		FSHB	ENSG00000131808.11	transcript	ENST00000533718.2	protein_coding					1631		chr11	TogoVar
GAL3ST2_chr2_241771822_241809287	241807290	CCACCTTC others(110): Show CCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACG CCAGGGACCCGGGAAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02723.hp1 HG02602.hp1 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0005 a0002c0002t0002g0157 a0001c0001t0001g0005 a0002c0002t0002g0157	2	314	0.0064	-117	c.31 others(11): Show c.3125_*3241del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3004		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807356	AACCTCCG others(110): Show AACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAG AGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0125 a0002c0002t0002g0125	1	314	0.0032	-117	c.31 others(11): Show c.3191_*3307del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3070		chr2	TogoVar
GALNT2_chr1_230062238_230287122	230198359	CCAGCAGC others(110): Show CCAGCAGCCCAGGAGCGTACGAGGAGTGGCAGGGGCAGGACAGCAGCCCA GGAGAGTACGAGGAGTGGCAGGGGCAGGACAGCAGCCCAGGAGCGTACGA GGAGTGGCAGGGGCAGGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp1 HG02897.hp1 others(3): Show HG02280.hp1 HG02896.hp1 HG02897.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0021 a0001c0001t0053 a0001c0001t0008 a0001c0001t0021 a0001c0001t0053	a0001c0001t0008g0005 a0001c0001t0008g0252 a0001c0001t0008g0253 others(3): Show a0001c0001t0008g0005 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0008g0312 a0001c0001t0021g0275 a0001c0001t0053g0301	6	324	0.0185	-117	c.221 others(17): Show c.221-4721_221-4605del		GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
GLIS1_chr1_53501239_53744164	53713283	GCAGCCTG others(110): Show GCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGC AACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAG ACCTCATCTCTTCAAGAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0052 a0004c0004t0003g0052	1	236	0.0042	-117	c.259 others(19): Show c.259+24406_259+24522del		GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10						chr1	TogoVar
GP1BA_chr17_4927277_4940023	4933822	AAGCCCGA others(110): Show AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCA CCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCC ACCTCAGAGCCCGCCCCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0001 a0008c0011t0001g0001	2	424	0.0047	-117	c.123 others(9): Show c.1233_1349del	p.Glu others(13): Show p.Glu412_Pro450del	GP1BA	ENSG00000185245.9	transcript	ENST00000329125.6	protein_coding	2/2	1328/2514	1233/1959	411/652		INFO_REALIGN_3_PRIME	chr17	TogoVar
GRIN1_chr9_137134154_137173756	137144694	GGAGGGGG others(110): Show GGAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACAGGA GTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGGGTGGTAGG GACAGGGGTGGGAGACAC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	298	0.0034	-117	c.394 others(15): Show c.394-996_394-880del		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137144784	GGGTGGTA others(110): Show GGGTGGTAGGGACAGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTAGAA AGTGTCCCCAGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGTCCCAG AGTCTAGAAAGTGTCCCC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp2 HG02897.hp1 others(2): Show HG01109.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0102 a0001c0001t0001g0197 a0001c0001t0001g0275 others(2): Show a0001c0001t0001g0102 a0001c0001t0001g0197 a0001c0001t0001g0275 a0001c0003t0001g0195 a0001c0003t0001g0196	5	298	0.0168	-117	c.394 others(15): Show c.394-941_394-825del		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19						chr9	TogoVar
HTN3_chr4_70023459_70041538	70037593	TGCCCGGC others(110): Show TGCCCGGCTGCGACCCCATCTGGGAGGTGAGGAGCGTCTCTGCCTGGCCA CCCCGTCTGAGAAGTGAGGAGCCCCTCTGCCTGGCAGCGGCCCCGTCTGG GAAGTGAGGAGCTCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02922.hp1 HG02055.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	412	0.0049	-117	c.13 others(11): Show c.1361_*1477del		HTN3	ENSG00000205649.9	transcript	ENST00000673563.1	protein_coding					1056		chr4	TogoVar
IFITM3_chr11_314676_325860	321505	TTCACTAT others(110): Show TTCACTATGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCACTATGGT GCCCAGGCAGCTGGATTATCCCATTACCTTCACTATGGTGCCCAGGCAGC TGGATTATCCCATAACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	31	0.0323	-117	c.-80 others(9): Show c.-809_-693del		IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding					646		chr11	TogoVar
IL3RA_chrX_1331785_1387689	1367212	AGCGGGGT others(110): Show AGCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGCGCCGGGTGCGCGG GGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGC GCGGGGTGAGCCGGGTGC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01192.hp2 HG02257.hp2 HG01123.hp1 HG01192.hp2 HG02257.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0003 a0004c0011t0004 a0001c0001t0003 a0004c0011t0004	a0001c0001t0003g0081 a0001c0001t0003g0082 a0004c0011t0004g0059 a0001c0001t0003g0081 a0001c0001t0003g0082 a0004c0011t0004g0059	3	115	0.0261	-117	c.874 others(17): Show c.874+1972_874+2088del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
ITPRID1_chr7_31509090_31661504	31550884	TTAACAAT others(110): Show TTAACAATTTTCTCCAGGGTTACATTTGAAAAAGCAGTCACTAACTTAAA ATTTGGCATTATGATACAGAAGCAGCAATTTGAATACTATCAGCTACCTG ATAGCTTCTTGTTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp2 others(51): Show HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00673.hp1 HG01167.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01943.hp2 HG01993.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02630.hp2 HG02895.hp1 HG03704.hp2 HG03834.hp2 HG04204.hp1 NA18942.hp1 NA18948.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18969.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp1 NA18988.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19070.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA20905.hp2	a0002 a0003 a0012 others(4): Show a0002 a0003 a0012 a0016 a0022 a0023 a0024	a0002c0001 a0003c0005 a0003c0007 others(5): Show a0002c0001 a0003c0005 a0003c0007 a0012c0016 a0016c0020 a0022c0032 a0023c0031 a0024c0037	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(14): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0022 a0003c0005t0001 a0003c0005t0003 a0003c0005t0013 a0003c0007t0003 a0003c0007t0027 a0012c0016t0004 a0012c0016t0030 a0016c0020t0003 a0022c0032t0003 a0023c0031t0001 a0024c0037t0001	a0002c0001t0001g0169 a0002c0001t0001g0175 a0002c0001t0001g0183 others(51): Show a0002c0001t0001g0169 a0002c0001t0001g0175 a0002c0001t0001g0183 a0002c0001t0001g0194 a0002c0001t0001g0210 a0002c0001t0002g0009 a0002c0001t0002g0027 a0002c0001t0002g0047 a0002c0001t0002g0188 a0002c0001t0002g0197 a0002c0001t0002g0203 a0002c0001t0002g0209 a0002c0001t0002g0211 a0002c0001t0002g0214 a0002c0001t0002g0218 a0002c0001t0003g0176 a0002c0001t0003g0178 a0002c0001t0003g0179 a0002c0001t0003g0181 a0002c0001t0003g0182 a0002c0001t0003g0187 a0002c0001t0005g0186 a0002c0001t0007g0046 a0002c0001t0007g0190 a0002c0001t0007g0191 a0002c0001t0022g0174 a0003c0005t0001g0185 a0003c0005t0003g0172 a0003c0005t0003g0173 a0003c0005t0003g0180 a0003c0005t0003g0189 a0003c0005t0003g0192 a0003c0005t0003g0196 a0003c0005t0003g0200 a0003c0005t0003g0205 a0003c0005t0003g0206 a0003c0005t0003g0216 a0003c0005t0003g0217 a0003c0005t0013g0235 a0003c0007t0003g0184 a0003c0007t0003g0195 a0003c0007t0003g0198 a0003c0007t0003g0204 a0003c0007t0003g0212 a0003c0007t0003g0215 a0003c0007t0027g0202 a0012c0016t0004g0177 a0012c0016t0004g0207 a0012c0016t0030g0199 a0016c0020t0003g0193 a0016c0020t0003g0208 a0022c0032t0003g0201 a0023c0031t0001g0026 a0024c0037t0001g0213	54	312	0.1731	-117	c.-24 others(17): Show c.-24+1386_-24+1502del		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	2/14						chr7	TogoVar
KCNG2_chr18_79792938_79905100	79888370	ATCCTCCT others(110): Show ATCCTCCTCATGAGGCCGCGGTGGGGCCGGGACGGCGGCGTCCTCCTCAT GAGGCCGCGGTGGGGCCGGGACGGCGGCGTCCTCCTCATGAGGCCGCGGT GGGGCCGGGACGGCGGCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01099.hp1 others(52): Show HG00438.hp1 HG00558.hp2 HG01099.hp1 HG01106.hp2 HG01496.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02132.hp2 HG02155.hp2 HG02273.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG03017.hp1 HG03654.hp2 HG03834.hp1 HG04228.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18964.hp2 NA18973.hp2 NA18980.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18997.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19056.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0011 a0002c0002 a0007c0011	a0002c0002t0001 a0002c0002t0002 a0007c0011t0002 a0002c0002t0001 a0002c0002t0002 a0007c0011t0002	a0002c0002t0001g0030 a0002c0002t0001g0050 a0002c0002t0002g0031 others(52): Show a0002c0002t0001g0030 a0002c0002t0001g0050 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0038 a0002c0002t0002g0040 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0079 a0002c0002t0002g0086 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0113 a0002c0002t0002g0123 a0002c0002t0002g0164 a0002c0002t0002g0205 a0002c0002t0002g0209 a0002c0002t0002g0214 a0002c0002t0002g0235 a0002c0002t0002g0239 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0285 a0002c0002t0002g0287 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0306 a0002c0002t0002g0311 a0007c0011t0002g0247	55	312	0.1763	-117	c.625 others(19): Show c.625-10604_625-10488del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNIP4_chr4_20723606_21953772	21714787	TTATTTTA others(110): Show TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0069 a0001c0001t0008g0069	1	80	0.0125	-117	c.61+ others(19): Show c.61+233667_61+233783del		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KDM4B_chr19_4964113_5158598	5043857	TGGGGTGT others(110): Show TGGGGTGTCCACCTTATCCCGTGCTGTGTTTATCGGAGTGGGGGTGTCCA CCTTATCCCGCGTGGTGTTTATCGGAGTGGGGGTGTCCACTGTATCCCGC GTGGTGGTTATCGGAGTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG03516.hp2 HG02145.hp2 HG02486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0256 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0256	3	270	0.0111	-117	c.432 others(17): Show c.432+2627_432+2743del		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KLF17_chr1_44113821_44140140	44140023	TAGTAGAG others(110): Show TAGTAGAGGTTGTCATCTGCCCCCCGTAGAGGGCCTGGTTACCAGTGGAG GTTGTCATCTGCTCTCCACAGAGGTTCTGGTTACCAGTGGAGGTCATCAT CTGCCCCCAGTAGAGGGT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01261.hp2 HG01978.hp2 others(15): Show HG00280.hp1 HG01261.hp2 HG01978.hp2 HG02004.hp2 HG02148.hp2 HG02293.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18951.hp1 NA18962.hp2 NA18975.hp1 NA18995.hp1 NA19007.hp2 NA19060.hp1 NA19070.hp1 NA19087.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0028 a0004c0004t0001g0029 a0004c0004t0001g0030 others(12): Show a0004c0004t0001g0028 a0004c0004t0001g0029 a0004c0004t0001g0030 a0004c0004t0001g0031 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0088 a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0141 a0004c0004t0001g0198	18	444	0.0405	-117	c.67 others(11): Show c.6787_*6903del		KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding					4884		chr1	TogoVar
L3MBTL4_chr18_5949717_6419911	6272375	ACGCCTTC others(110): Show ACGCCTTCAGGAGCACGGGGAAAGGGGGAGTTGTGCAGATTCAACTAGGA CTGAATATAAGGAACACAGAACAGTTCTGACAGCCCCACTGCATTAAACT GGTGGTTCTACAGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	94	0.0106	-117	c.128 others(17): Show c.128-8454_128-8338del		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272446	CAGTTCTG others(110): Show CAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGCGC CTTCAGGAGCACGGGGAAAGGGGGAGTTGTGCAGATTCAACTAGGACTGA ATATAAGGAACACAGAAG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	94	0.0106	-117	c.128 others(17): Show c.128-8525_128-8409del		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272610	CGCCTTCA others(110): Show CGCCTTCAGGAGCACGGGGAAAGGGGGAGTTGTGCAAATTCAACTAGGAC TGAATATAAGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAAACTG GTGGTTCTACAGAGCGGT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	94	0.0106	-117	c.128 others(17): Show c.128-8689_128-8573del		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272797	CAGTTCTG others(110): Show CAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGTGGTGC CTTCAGGAGCATGGGGAAAGGGGGAGTTGTGCAGATTCAACTAGGACTGA ATATAAGGAATACAGAAG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	94	0.0106	-117	c.128 others(17): Show c.128-8876_128-8760del		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272914	GAGTTCTG others(110): Show GAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGC CTTCAGGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAACTAGGACTGA ATATAAGGAATACAGAAC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02970.hp2 HG02922.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0037 a0001c0001t0005g0075 a0001c0001t0002g0037 a0001c0001t0005g0075	2	94	0.0213	-117	c.128 others(17): Show c.128-8993_128-8877del		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18						chr18	TogoVar
LGR5_chr12_71434798_71591310	71563931	CACACACA others(110): Show CACACACACCGTGTATATATGCATATATACGTATCTGTACACACGCACTG TGTATATATGCATATATACGTATCTGTACACACGCACCGTGTATATATGC ATATATACGTATCTGTAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	200	0.0050	-117	c.857 others(17): Show c.857+2084_857+2200del		LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
LGR5_chr12_71434798_71591310	71563936	ACACCGTG others(110): Show ACACCGTGTATATATGCATATATACGTATCTGTACACACGCACTGTGTAT ATATGCATATATACGTATCTGTACACACGCACCGTGTATATATGCATATA TACGTATCTGTATACACG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01099.hp2 HG01257.hp2 others(11): Show HG00423.hp1 HG01099.hp2 HG01257.hp2 HG01496.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp2 HG02622.hp2 HG02630.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0003 a0002c0003t0005 a0002c0003t0013	a0001c0001t0001g0019 a0001c0001t0001g0124 a0001c0001t0002g0064 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0124 a0001c0001t0002g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0003g0122 a0001c0006t0003g0115 a0002c0003t0005g0032 a0002c0003t0005g0033 a0002c0003t0005g0100 a0002c0003t0013g0010	14	200	0.0700	-117	c.857 others(17): Show c.857+2127_857+2243del		LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC56_chr11_532527_559912	541871	AGCACGCT others(110): Show AGCACGCTCAGTACCCCACACACCCACGCCAGTACCCCCGGCACGCTCAG TACCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTACCCCACACA CCCACGCCAGTACCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01258.hp1 others(5): Show HG00735.hp1 HG01256.hp2 HG01258.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG04204.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0011 a0003c0003t0001 a0003c0003t0011	a0003c0003t0001g0021 a0003c0003t0001g0038 a0003c0003t0001g0210 others(2): Show a0003c0003t0001g0021 a0003c0003t0001g0038 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0011g0261	8	387	0.0207	-117	c.265 others(15): Show c.265+415_265+531del		LRRC56	ENSG00000161328.11	transcript	ENST00000270115.8	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
LRRTM3_chr10_66921036_67106551	67013179	GTAAGAAC others(110): Show GTAAGAACCTGACTCAAATTCAGATCTGTCAAATGCATCTGGTGTCTGTC CTTAATACTCTATTAAGTTGCCTCTCTTCATTTAATAAAATTCTCTACCA TTCAAAATTAAAGTTGTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0020 a0001c0001t0012 a0001c0001t0020	a0001c0001t0012g0276 a0001c0001t0020g0275 a0001c0001t0012g0276 a0001c0001t0020g0275	2	294	0.0068	-117	c.153 others(21): Show c.1537-84405_1537-84289del		LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
LSS_chr21_46183446_46233774	46192877	GCACAGGT others(110): Show GCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTGCAT CTGTCTCCATGTACGTATGTCTGTGTATGGCACAGATGGGATACTGCGGG TGCATCTGCATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG02055.hp2 HG02895.hp1 HG02897.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0208 a0001c0004t0012g0209 a0001c0004t0012g0210 others(1): Show a0001c0004t0012g0208 a0001c0004t0012g0209 a0001c0004t0012g0210 a0001c0004t0012g0211	4	358	0.0112	-117	c.198 others(18): Show c.1989-1035_1989-919del		LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	20/21						chr21	TogoVar
LUC7L_chr16_183990_234449	186321	GGGGGAAC others(110): Show GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	350	0.0029	-117	c.27 others(11): Show c.2760_*2876del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2668		chr16	TogoVar
LUC7L_chr16_183990_234449	186865	GGGGGAAC others(110): Show GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20805.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0142 a0001c0001t0001g0143	2	350	0.0057	-117	c.22 others(11): Show c.2216_*2332del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2124		chr16	TogoVar
MAEA_chr4_1284891_1345137	1323894	TGTGCCTG others(110): Show TGTGCCTGGTGTTGGATGAAGTTGAGATTGGATGCCTGGTGGATGAGCGT GCCTGGTGTTGGATAAGTTGAGATTGGGTGAGCATGCCTTGTGTTGGATG AGTTGAGATTGGATGAGC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	388	0.0026	-117	c.579 others(17): Show c.579+1396_579+1512del		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19452235	GAAGAGAA others(110): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	163	0.0061	-117	c.995 others(17): Show c.995+4561_995+4677del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MATN1_chr1_30706277_30728585	30728308	GAAATGAG others(110): Show GAAATGAGCATCTGGAGGAGCGGGCTCAGGTTTAGCACTGGGAACTCTAG CTGGCCCAGTTAATGCCCCAACCCATGGCCCTTCAGCCCACTGTGGGTTC AGCTCACCTACAGCTGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0008	1	440	0.0023	-117	c.-48 others(11): Show c.-4874_-4758del		MATN1	ENSG00000162510.6	transcript	ENST00000373765.5	protein_coding					4724		chr1	TogoVar

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