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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GPAA1_chr8_144077634_144091216	144089564	ACATATAC others(109): Show ACATATACATATATATATATATATGTATATACATATATATATATATATAT ACATATATATATATATACATATATATATATATACATATATATATATATAT ATATACATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	336	0.0030	-116	c.34 others(11): Show c.3440_*3555del	GPAA1	ENSG00000197858.12	transcript	ENST00000355091.9	protein_coding		3349		chr8	TogoVar
GPR68_chr14_91227532_91249704	91244823	CCAGCCAG others(109): Show CCAGCCAGAGGCTGAGGGCGGCGGAATGGCTCTCTCCACGCATCTTCCTC TGCTCTCCATGCAACCCAGAGTCAGTGAGCAGCCTCGCTGGGAATGTGAA AGCCTGAGCTAGGGGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	418	0.0024	-116	c.-77 others(9): Show c.-772_-657del	GPR68	ENSG00000119714.11	transcript	ENST00000650645.1	protein_coding		120		chr14	TogoVar
GPSM1_chr9_136322539_136364601	136352168	AATGCTGC others(109): Show AATGCTGCGCCGTTGCTGTTGGTGACACCGATGCTGCGCCGTTGCTGTTG GTGACACCGATGCTGCGCCGTTGCTGTTGGTGACACCGATGCTGCGCCGT TGCTGTTGGTGACACCG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG03516.hp1 HG01256.hp2 HG01258.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0137 a0001c0001t0001g0011 a0001c0001t0001g0137	3	99	0.0303	-116	c.145 others(19): Show c.1455+2460_1455+2575del	GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137144829	TAGAAAGT others(109): Show TAGAAAGTGTCCCCAGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGT CCCAGAGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGA AGGGGGTCCCAGGGTCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	259	0.0039	-116	c.394 others(15): Show c.394-881_394-766del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137145092	TGAGAGGA others(109): Show TGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGAGGGGTGGGG ACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGG TGTGGGGACCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp2 HG02897.hp1 HG01109.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0192 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0001t0001g0192 a0001c0003t0001g0190 a0001c0003t0001g0191	3	296	0.0101	-116	c.394 others(15): Show c.394-630_394-515del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN2D_chr19_48388668_48449931	48430429	CCTCAAGT others(109): Show CCTCAAGTGATTGGCCTGCCTCAGCCTCCCAAAGTGCTACGATTACAGGC GGGAGCCATAGCTCCCAGCTGATAGGGGGTTTCACCATGTTGGCCAGGCT GGTCTCAAACTCCTGAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02723.hp1 others(2): Show HG02615.hp2 HG02622.hp2 HG02723.hp1 HG03453.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0002t0002g0038 a0001c0002t0002g0039	5	364	0.0137	-116	c.225 others(19): Show c.2252+8491_2252+8606del	GRIN2D	ENSG00000105464.4	transcript	ENST00000263269.4	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GTF3C2_chr2_27320854_27361764	27359344	AGTGAGGA others(109): Show AGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCG CCTCTGCCCCGCCGCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCC GCGACCCCGTCTGGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01167.hp1 HG02257.hp2 others(6): Show HG00733.hp2 HG01167.hp1 HG02257.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0002t0001g0151 others(6): Show a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158	9	284	0.0317	-116	c.-27 others(11): Show c.-2746_-2631del	GTF3C2	ENSG00000115207.15	transcript	ENST00000264720.8	protein_coding		2581		chr2	TogoVar
GYG2_chrX_2823930_2887818	2845015	ATGTGTAT others(109): Show ATGTGTATGTATATTTATATACACATGTGTATGTATATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG04204.hp1 NA18998.hp2 HG00408.hp1 HG04204.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0004t0001g0106 a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0004t0001g0106	3	263	0.0114	-116	c.149 others(17): Show c.149+1685_149+1800del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
HDLBP_chr2_241222291_241320672	241243534	GGCCTGGT others(109): Show GGCCTGGTACAGTACCTGCAGCTCAGTCACCAGGAAACAGTGCCTGCAGC TCAGTCGGGGCCTGGTATAGTACCTACAGCTCAGACACCAGGAAACAGTG CCTGCAGCTCAGTCGGA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0115 a0002c0002t0001g0116	2	352	0.0057	-116	c.195 others(17): Show c.1951-972_1951-857del	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	16/27			chr2	TogoVar
IL3RA_chrX_1331785_1387689	1365358	GGGGTGAG others(109): Show GGGGTGAGCCGGGTGCGCGGGGTGAGCCGGCTGCGCGGGGTGAGCGGGGT GAGCGGGGTGAGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGAGCG GGGTGCGCGGGGTGAGC	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	109	0.0092	-116	c.874 others(15): Show c.874+110_874+225del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INMT_chr7_30747135_30762602	30760593	ACTGATGG others(109): Show ACTGATGGACACTTGGTGGTGTTTGTGTTTGGGCTATTGTGAATAATGCC GTTATGAGGCCAGCCACAGGTAAAACTCACTGAATTCTCACAACAGCTCA TGTGGACAGTATTATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0008 a0009c0012t0008	a0009c0012t0008g0006 a0009c0012t0008g0006	1	432	0.0023	-116	c.47 others(11): Show c.4743_*4858del	INMT	ENSG00000241644.2	transcript	ENST00000013222.5	protein_coding		2992		chr7	TogoVar
INO80D_chr2_205988721_206091174	205988822	AAAATAAA others(109): Show AAAATAAATAAAATAAATAAAATAAAATAAATAAAATAAATAAAATAAAT AAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAA ATAAAATAAAATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02451.hp2 others(2): Show HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0049 a0002c0002t0001 a0002c0002t0049	a0002c0002t0001g0105 a0002c0002t0001g0128 a0002c0002t0001g0162 others(2): Show a0002c0002t0001g0105 a0002c0002t0001g0128 a0002c0002t0001g0162 a0002c0002t0001g0171 a0002c0002t0049g0147	5	327	0.0153	-116	c.15 others(13): Show c.15430_*15545del	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding		4898		chr2	TogoVar
INPP5A_chr10_132532787_132788480	132540992	CCCTCTTG others(109): Show CCCTCTTGTTTTTGTTTTAGACAGGGTCTCATTCTGTCGCCCAGGCTAGA GTGCTGTAGTGGTGCGGTCACAACTCACTGCAGCCTCGACCGCCCTGACT CAGGTGAACCTCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG01952.hp1 others(6): Show HG01109.hp2 HG01261.hp1 HG01952.hp1 HG02015.hp2 HG02145.hp1 HG04199.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0010 a0001c0005t0018 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0005t0018 a0001c0005t0019	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(6): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0005t0018g0038 a0001c0005t0019g0035	9	202	0.0446	-116	c.75+ others(15): Show c.75+2825_75+2940del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132553432	CTGGTGAA others(109): Show CTGGTGAACGCCTTCTCAGAGCCTTGGTGGAATATTGAGTAGGATAGGGA GGGAGGACTGGTGAACACCTTCTCAGAGCCTTGGTGTGGAATATTGAGTG GGATAGGGAGGGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	202	0.0050	-116	c.75+ others(17): Show c.75+15287_75+15402del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406083	GTGTTTGT others(109): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 HG03486.hp1 HG03490.hp2 others(1): Show HG02976.hp2 HG03486.hp1 HG03490.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0020 a0001c0001t0002 a0001c0001t0006 a0001c0001t0020	a0001c0001t0002g0089 a0001c0001t0006g0009 a0001c0001t0020g0033 others(1): Show a0001c0001t0002g0089 a0001c0001t0006g0009 a0001c0001t0020g0033 a0001c0001t0020g0176	4	259	0.0154	-116	c.63 others(9): Show c.635_*750del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	635		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406251	GTGTTTGT others(109): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	267	0.0037	-116	c.46 others(9): Show c.467_*582del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	467		chr2	TogoVar
ITGB5_chr3_124756948_124892365	124789381	ACAGAACC others(109): Show ACAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTAT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04228.hp1 HG02738.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0169 a0001c0001t0003g0165 a0001c0001t0002g0169 a0001c0001t0003g0165	2	123	0.0163	-116	c.169 others(19): Show c.1693+6891_1693+7006del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789961	TCAGAACC others(109): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0008 a0001c0001t0007g0006 a0001c0001t0007g0008	2	340	0.0059	-116	c.169 others(19): Show c.1693+6311_1693+6426del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124790135	TCAGAACC others(109): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	349	0.0029	-116	c.169 others(19): Show c.1693+6137_1693+6252del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
KALRN_chr3_124028369_124731325	124436582	GTGACAGA others(109): Show GTGACAGATCTTCTCATGTGATGCTAGAGATGGGACTGGAGAAGTCACCT CAAGTTTGATGACAGATCTTCTCATGTGATGCTAGAGATGGGACTGGAGA AGTCACCTCAAGTTTGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp2 HG02071.hp2 others(14): Show HG00438.hp1 HG01243.hp2 HG02071.hp2 HG02486.hp1 HG02486.hp2 HG02896.hp2 HG03453.hp1 NA18906.hp2 NA18945.hp1 NA18947.hp1 NA18964.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp1 NA19077.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0007 others(11): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0018 a0001c0029 a0001c0038 a0001c0046 a0001c0065 a0001c0069 a0001c0071 a0001c0072 a0002c0076 a0005c0048	a0001c0001t0003 a0001c0002t0017 a0001c0007t0003 others(12): Show a0001c0001t0003 a0001c0002t0017 a0001c0007t0003 a0001c0009t0001 a0001c0018t0005 a0001c0018t0026 a0001c0029t0020 a0001c0038t0002 a0001c0046t0002 a0001c0065t0009 a0001c0069t0022 a0001c0071t0003 a0001c0072t0001 a0002c0076t0001 a0005c0048t0003	a0001c0001t0003g0010 a0001c0002t0017g0052 a0001c0007t0003g0104 others(14): Show a0001c0001t0003g0010 a0001c0002t0017g0052 a0001c0007t0003g0104 a0001c0009t0001g0064 a0001c0009t0001g0069 a0001c0009t0001g0071 a0001c0018t0005g0009 a0001c0018t0026g0072 a0001c0029t0020g0114 a0001c0038t0002g0035 a0001c0046t0002g0095 a0001c0065t0009g0093 a0001c0069t0022g0101 a0001c0071t0003g0082 a0001c0072t0001g0061 a0002c0076t0001g0067 a0005c0048t0003g0007	17	114	0.1491	-116	c.304 others(19): Show c.3048+2115_3049-2133del	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	17/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KASH5_chr19_49383249_49422990	49414674	CCCCCCAG others(109): Show CCCCCCAGGCCCGTCCGTGCTGCCTGGCCTCCCCCAGGCCCGTCCGTGCT GCCTGGCCTCCCCCAGGCCCGTCCGTGCTGCCTGGCCTCCCCCAGGCCCG TCCGTGCTGCCTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0131 a0002c0004t0001g0131	1	146	0.0068	-116	c.132 others(17): Show c.1329-218_1329-103del	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5043963	GTTATCGG others(109): Show GTTATCGGAGTGGGGGTGTCCACCTTATCCCGCGTGGTGTTTATCGGAGT GGGGTGTCCACCTTATCCCACGCGGTGTTTATCGGAGTGGGGGTGTCCAC CTTATCCCGCGTGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0012 a0003c0009t0012	a0003c0009t0012g0146 a0003c0009t0012g0146	1	258	0.0039	-116	c.432 others(17): Show c.432+2804_432+2919del	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5076466	CGTGCTCT others(109): Show CGTGCTCTCTCGTTGACTGAGTGACGAGAGCGGCCACACTGCATCCTTTC CCCAGGGTCGTGCTCTCTCGTTGACCGAGTGATGAGAGCGGCCACACTGC GTCCTTTCCCCAGGGTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0027 a0010c0027t0027	a0010c0027t0027g0258 a0010c0027t0027g0258	1	268	0.0037	-116	c.677 others(15): Show c.677-884_677-769del	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KHDRBS3_chr8_135452456_135652610	135535225	AATAAACT others(109): Show AATAAACTATTATATATAGTTAAACTATATATAAACTATTATATATAGTT AAACTATATATAAACTATTATATATAGTTAAACTATATATAAACTATTAT ATATAGTTAAACTATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02486.hp2 HG02896.hp1 others(8): Show HG00642.hp2 HG02486.hp2 HG02896.hp1 HG03098.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp2 NA18522.hp2 NA18966.hp1 NA18989.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0002g0004 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255	11	69	0.1594	-116	c.208 others(17): Show c.208-7321_208-7206del	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KIF26B_chr1_245149985_245714432	245442733	TGTCATCT others(109): Show TGTCATCTCCCTCACTGTTCACCTACAGCGGTCATCTCCCTCACTGTTCA CCTACAGCGGTCATCTCCCTCACTGTTCACCTACAGCGGTCATCTCCCTC ACTGTTCACCTACAGCG	T T	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19085.hp2 NA19011.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0053 a0002c0006 a0001c0053 a0002c0006	a0001c0053t0052 a0002c0006t0002 a0001c0053t0052 a0002c0006t0002	a0001c0053t0052g0127 a0002c0006t0002g0041 a0001c0053t0052g0127 a0002c0006t0002g0041	2	135	0.0148	-116	c.116 others(21): Show c.1166+23042_1166+23157del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245442816	CAGCGGTC others(109): Show CAGCGGTCATCTCCCTCACTGTTCACCTACAGCGGTCATCTCCCTCACTG TTCACCTACAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTC CCTCACTGTTCACCTAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp2 HG01175.hp1 others(23): Show HG00408.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01978.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02818.hp2 HG03017.hp1 HG03195.hp2 HG03710.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18971.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19043.hp1 NA19074.hp2 NA19085.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0010 a0018	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0001c0040 a0001c0047 a0002c0006 a0002c0025 a0002c0026 a0002c0028 a0002c0060 a0003c0003 a0005c0017 a0010c0023 a0018c0062	a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 others(19): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 a0001c0001t0036 a0001c0001t0038 a0001c0002t0003 a0001c0002t0019 a0001c0002t0053 a0001c0002t0059 a0001c0005t0007 a0001c0012t0082 a0001c0040t0002 a0001c0047t0009 a0002c0006t0021 a0002c0025t0056 a0002c0026t0003 a0002c0028t0003 a0002c0060t0007 a0003c0003t0004 a0005c0017t0002 a0010c0023t0005 a0018c0062t0086	a0001c0001t0002g0020 a0001c0001t0002g0046 a0001c0001t0006g0104 others(23): Show a0001c0001t0002g0020 a0001c0001t0002g0046 a0001c0001t0006g0104 a0001c0001t0025g0073 a0001c0001t0025g0075 a0001c0001t0036g0140 a0001c0001t0038g0107 a0001c0002t0003g0012 a0001c0002t0003g0015 a0001c0002t0003g0027 a0001c0002t0019g0061 a0001c0002t0053g0122 a0001c0002t0059g0158 a0001c0005t0007g0024 a0001c0012t0082g0131 a0001c0040t0002g0026 a0001c0047t0009g0128 a0002c0006t0021g0066 a0002c0025t0056g0057 a0002c0026t0003g0058 a0002c0028t0003g0011 a0002c0060t0007g0037 a0003c0003t0004g0145 a0005c0017t0002g0045 a0010c0023t0005g0118 a0018c0062t0086g0144	26	154	0.1688	-116	c.116 others(21): Show c.1166+23100_1166+23215del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245442845	CAGCGGTC others(109): Show CAGCGGTCATCTCCCTCACTGTTCACCTACAGCGGTCATCTCCCTCACTG TTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTC CCTCACTGTTCACCTAG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02109.hp1 HG03098.hp1 others(4): Show HG01106.hp1 HG02109.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0013 a0001c0016 a0004c0011	a0001c0001t0041 a0001c0001t0066 a0001c0002t0043 others(4): Show a0001c0001t0041 a0001c0001t0066 a0001c0002t0043 a0001c0009t0012 a0001c0013t0049 a0001c0016t0045 a0004c0011t0020	a0001c0001t0041g0022 a0001c0001t0066g0009 a0001c0002t0043g0109 others(4): Show a0001c0001t0041g0022 a0001c0001t0066g0009 a0001c0002t0043g0109 a0001c0009t0012g0108 a0001c0013t0049g0154 a0001c0016t0045g0098 a0004c0011t0020g0152	7	121	0.0579	-116	c.116 others(21): Show c.1166+23129_1166+23244del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF4A_chrX_70285104_70425886	70373580	GTATATAT others(109): Show GTATATATATACGTATATATATACATATATACGTGTATATATATACGTAT ATATATACATATATACGTGTATATATATACGTATATATATACATATATAC GTGTATATATATACGTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0242 a0001c0008t0001g0242	1	201	0.0050	-116	c.167 others(17): Show c.1675-562_1675-447del	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KSR2_chr12_117448012_117973990	117730929	CCCCGTCT others(109): Show CCCCGTCTAGGAAGTGAGGAGCGTCTCTGCCTGGACGTCCATCGTCTGGG ATGTGAGGAGCCCCTCTGCCCAGCCGCCCAGTCTGGGAAGTGAGGAGCAC CTCTTCCCGGCCGCCAT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0012 a0001c0003t0004g0012	1	194	0.0052	-116	c.986 others(19): Show c.986+29966_986+30081del	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19			chr12	TogoVar
LMF1_chr16_848634_975984	949557	GAGACAAT others(109): Show GAGACAATGACAGAGTCAGAGACAACGACAGAGTCAGAGACGACAGAGTC AGAGACGACAGAGTCAGAGCCAATGACAGAGTCAGCCAATGACAGAGTCA GAGCCAACGACAGAGTC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01993.hp1 HG02148.hp2 others(5): Show HG01123.hp2 HG01993.hp1 HG02148.hp2 NA18946.hp2 NA18948.hp2 NA18967.hp1 NA18982.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0013 a0002c0017 a0001c0002 a0001c0013 a0002c0017	a0001c0002t0001 a0001c0013t0001 a0002c0017t0001 a0001c0002t0001 a0001c0013t0001 a0002c0017t0001	a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0041 others(5): Show a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0013t0001g0039 a0001c0013t0001g0044 a0002c0017t0001g0038	8	283	0.0283	-116	c.503 others(17): Show c.503+4684_503+4799del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	960476	GACACAGA others(109): Show GACACAGACTCACGGTGACAACACTGGATCACAACCCAGACACCATCTCA TGGTGACAACACGGGATCACGACCCAGACACAGACTCACGGTGACAGCAC GGGATCACGACCCAGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01261.hp2 others(5): Show HG00099.hp2 HG01069.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02738.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0003c0030 others(1): Show a0001c0001 a0003c0009 a0003c0030 a0003c0032	a0001c0001t0002 a0003c0009t0001 a0003c0030t0002 others(1): Show a0001c0001t0002 a0003c0009t0001 a0003c0030t0002 a0003c0032t0001	a0001c0001t0002g0266 a0003c0009t0001g0001 a0003c0009t0001g0002 others(5): Show a0001c0001t0002g0266 a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0005 a0003c0009t0001g0006 a0003c0030t0002g0008 a0003c0032t0001g0007	8	292	0.0274	-116	c.194 others(17): Show c.194-5926_194-5811del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMOD1_chr1_201891456_201951548	201901574	ATATATAT others(109): Show ATATATATATACATATATATATGTATATATATATATACACATATATATGT GTGTGTGTATATATATATATATATACATATATATGTGTATATATATATAT ACACATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0024 a0003c0003t0001g0024	1	398	0.0025	-116	c.262 others(15): Show c.262-939_262-824del	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding	1/2			chr1	TogoVar
LRCH2_chrX_115105616_115239096	115125503	ATATATAT others(109): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATACACACACACATATATATATACACATATAT ATACGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	236	0.0042	-116	c.179 others(19): Show c.1791+1224_1791+1339del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar
LRP8_chr1_53237364_53333070	53284080	CGCTTACT others(109): Show CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0156 a0001c0001t0014g0156	1	294	0.0034	-116	c.368 others(17): Show c.368-3481_368-3366del	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132358302	GAGCGTGG others(109): Show GAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGCGTGGGGAGGAGCCGAGG TGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGCGTGGGGAGG AGCCGAGGTGGTGGAGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00642.hp2 others(35): Show HG00423.hp2 HG00544.hp1 HG00642.hp2 HG01106.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02080.hp2 HG03130.hp2 HG03239.hp1 HG03492.hp2 HG03942.hp2 NA18612.hp2 NA18959.hp1 NA18962.hp2 NA18984.hp2 NA18988.hp1 NA18998.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19060.hp1 NA19065.hp2 NA19067.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(9): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0012 a0001c0002t0016 a0001c0002t0019 a0001c0002t0020 a0001c0002t0024 a0001c0002t0042 a0001c0002t0044 a0001c0002t0051 a0001c0002t0055	a0001c0002t0001g0235 a0001c0002t0001g0268 a0001c0002t0003g0008 others(34): Show a0001c0002t0001g0235 a0001c0002t0001g0268 a0001c0002t0003g0008 a0001c0002t0003g0223 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0236 a0001c0002t0003g0248 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0004g0224 a0001c0002t0004g0225 a0001c0002t0004g0227 a0001c0002t0004g0250 a0001c0002t0004g0252 a0001c0002t0004g0260 a0001c0002t0004g0261 a0001c0002t0004g0264 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0004g0270 a0001c0002t0004g0273 a0001c0002t0012g0191 a0001c0002t0012g0229 a0001c0002t0012g0230 a0001c0002t0012g0272 a0001c0002t0016g0247 a0001c0002t0019g0237 a0001c0002t0019g0238 a0001c0002t0020g0263 a0001c0002t0024g0222 a0001c0002t0042g0228 a0001c0002t0044g0267 a0001c0002t0051g0226 a0001c0002t0055g0262	38	234	0.1624	-116	c.117 others(19): Show c.1170+2468_1170+2583del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19452059	AGAAGAGA others(109): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	159	0.0063	-116	c.995 others(17): Show c.995+4738_995+4853del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452230	GAAGAGAA others(109): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	156	0.0064	-116	c.995 others(17): Show c.995+4567_995+4682del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452235	GAAGAGAA others(109): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0160 a0002c0002t0006g0160	1	156	0.0064	-116	c.995 others(17): Show c.995+4562_995+4677del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAPK8IP3_chr16_1701195_1775351	1728741	GCAGCAGC others(109): Show GCAGCAGCCCCCCAGACGGCCTTCACAGAGCTGAGTGTTCTCCCATGGCA CAGCGCACACAGCAGCCCCCCAGACGGCTTTAACAGAGCTGAGTGTTCTC CCATGGCACAGCACACA	G G	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	328	0.0030	-116	c.440 others(15): Show c.440-349_440-234del	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MCTP2_chr15_94226561_94488952	94244947	CACCTGTT others(109): Show CACCTGTTTATATACGTATATGTATACACATACATATGCACCTGTTTATA TACGTATATGTATACACATACATATGCACCTATGTTTATATACGTATATG TATACACATACATATGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0272 a0001c0002t0051g0272	1	274	0.0036	-116	c.-66 others(19): Show c.-66+13293_-66+13408del	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MED19_chr11_57698710_57717215	57717015	CTCCCAGA others(109): Show CTCCCAGACGGGGTCGCGGCCGGGCAGAGGCGCTCCTCACATCCCGGACG GGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGG CAGAGACGCTCCTCACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG03139.hp2 HG03209.hp1 others(2): Show HG01261.hp2 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0088	5	378	0.0132	-116	c.-49 others(11): Show c.-4952_-4837del	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		4801		chr11	TogoVar
MRPL23_chr11_1942332_1961600	1950620	CCGCCCAC others(109): Show CCGCCCACCCCTGTTGTGAGTGGACACGCGGGGGTCTGCAGGGTTAGCTA CCCTGTTTCCCGCCCACCACTGTTGGGAGTGGACACGCGGGGGTCTGCAG GGTTAGCTACCCCGTTT	C C	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	400	0.0025	-116	c.18- others(13): Show c.18-277_18-162del	MRPL23	ENSG00000214026.11	transcript	ENST00000397298.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
MSH3_chr5_80649652_80881815	80692356	ATAGATAA others(109): Show ATAGATAAACATGTATATGTTTAGATAGATAAACATGTATATGTTTAGAT AGATAAACATGTATATGTTTAGATAGATAAACATGTATATGTTTAGATAG ATAAACATGTATATGTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18950.hp2 NA18952.hp1 others(6): Show HG02615.hp1 NA18950.hp2 NA18952.hp1 NA18964.hp1 NA18983.hp2 NA18998.hp2 NA19001.hp2 NA19070.hp1 NA19091.hp2	a0001 a0021 a0001 a0021	a0001c0002 a0021c0029 a0001c0002 a0021c0029	a0001c0002t0001 a0021c0029t0005 a0001c0002t0001 a0021c0029t0005	a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0002t0001g0143 others(6): Show a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0163 a0021c0029t0005g0180	9	280	0.0321	-116	c.134 others(21): Show c.1340+13270_1340+13385del	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MYRFL_chr12_69820227_69964097	69853640	TGGGCAGA others(109): Show TGGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCGGGCAGAGAC GATCCTCACTTCCCAGACGGGGAGGCAGCCGGGAAGAGGCGCTCCTCACT TCCCAGACTGGGCGGCG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0263 a0005c0008t0004g0263	1	320	0.0031	-116	c.47- others(15): Show c.47-1606_47-1491del	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYT1_chr20_64159452_64247253	64171582	TCCTCTGG others(109): Show TCCTCTGGCATCTGGAGGAACCCAAACCCTAACCCCTAACCTCTGGCATC TGGAGGAACCCAAACCCTAACTCCCTACACCTCTGGCATCTGGAGGAACC CAAACCCTAACCCCTAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	200	0.0050	-116	c.-99 others(17): Show c.-99+6876_-99+6991del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAALADL2_chr3_174854334_175815548	175697861	ATATGTAT others(109): Show ATATGTATGTATACATATATATGTGTATATATGTATGTATACATATATAT GTGTATATATGTATGTATACATATATATGTGTATATATGTATGTATACAT ATATATGTGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0029 a0003c0004t0029	a0003c0004t0029g0022 a0003c0004t0029g0022	1	54	0.0185	-116	c.189 others(21): Show c.1897-39437_1897-39322del	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCBP2L_chrX_107772733_107800829	107782184	TATATATA others(109): Show TATATATATATAAATATATATATATAAATATATATATAAATATATATATA TAAATATATATATATAAATATATATATAAATATATATATATAAATATATA TAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	298	0.0034	-116	c.-73 others(17): Show c.-73+4392_-73+4507del	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NEU4_chr2_241804193_241822413	241805186	GCCAGGGA others(109): Show GCCAGGGACGTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0185 a0001c0002t0001g0185	1	315	0.0032	-116	c.-40 others(11): Show c.-4091_-3976del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		4006		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807379	CCCCCCTC others(109): Show CCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0002 a0001c0006t0001g0002	1	318	0.0031	-116	c.-18 others(11): Show c.-1898_-1783del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1813		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79474314	GAGGGAAG others(109): Show GAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAACCTGAGGGAA GCGTGTTCTCACGCTCACCGTCGACGTAAACCTGAGGGAAGCGTGTTCTC TCACTGTCAACTTTGCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp2 NA21309.hp2 HG02258.hp2 HG02630.hp2 NA21309.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0029 a0001c0010t0005 a0001c0010t0029	a0001c0010t0005g0126 a0001c0010t0029g0081 a0001c0010t0029g0125 a0001c0010t0005g0126 a0001c0010t0029g0081 a0001c0010t0029g0125	3	320	0.0094	-116	c.209 others(19): Show c.2092+6794_2092+6909del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar

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