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
PPP1R1C_chr2_181980853_182122756	182077200	ATGTAAAC others(76): Show ATGTAAACATTGCTACATTAAACTGTTTGTTTTAAAGTAACATAAAATGT CATAAACTTACTTTTTTTGGATTAAGATACATTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG02895.hp2 others(1): Show HG02615.hp1 HG02886.hp2 HG02895.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0128 others(1): Show a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0128 a0001c0001t0002g0144	4	344	0.0116	-83	c.241 others(102): Show c.241+13413_241+13495delAAACATTGCTACATTAAACTGTTTGT TTTAAAGTAACATAAAATGTCATAAACTTACTTTTTTTGGATTAAGATAC ATTTTGT	PPP1R1C	ENSG00000150722.11	transcript	ENST00000682840.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCZ_chr1_2045411_2190395	2122398	CACGGTGG others(76): Show CACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGT GGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0231 a0001c0003t0003g0231	1	286	0.0035	-83	c.335 others(102): Show c.335-12863_335-12781delACGGTGGTGGTTAGGGTCACGGTGGT AGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGT TAGGGTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122944	GTCACGGT others(76): Show GTCACGGTGGTAGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTAGG GTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02155.hp1 HG00280.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0011 a0001c0003t0003 a0001c0002t0011 a0001c0003t0003	a0001c0002t0011g0012 a0001c0003t0003g0185 a0001c0002t0011g0012 a0001c0003t0003g0185	2	286	0.0070	-83	c.335 others(102): Show c.335-12314_335-12232delCGGTGGTAGTTAGGGTCATGGTGGTG GTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTT AGGTTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123168	GTCACGGT others(76): Show GTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGG GTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG03486.hp2 HG02965.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0106 a0001c0001t0001g0176 a0001c0001t0001g0048 a0001c0001t0001g0106 a0001c0001t0001g0176	3	286	0.0105	-83	c.335 others(102): Show c.335-12090_335-12008delCGGTGGTAGTTAGGGTCACGGTGGTG GTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTT AGGTTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	161350776	TATTTTTA others(76): Show TATTTTTATATATTTATATTTAAAATATATATATTTTTATATATTTATAT TTAAAATATATATATTTTTATATATTTATATTTA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0012 a0005c0011t0012	a0005c0011t0012g0009 a0005c0011t0012g0009	1	32	0.0313	-83	c.128 others(100): Show c.1286-648_1286-566delTAAATATAAATATATAAAAATATATATA TTTTAAATATAAATATATAAAAATATATATATTTTAAATATAAATATATA AAAAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PRMT8_chr12_3486203_3598973	3577406	CACACCTT others(76): Show CACACCTTTGCCCCAGCGGCCTGCCAGATAGAGCTTCCAGCTGCCCCTTC CTGAGCGTCCCTGTTCATGCTCTCGCCTCCACAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0343 a0001c0001t0014g0002 a0001c0001t0001g0343 a0001c0001t0014g0002	2	364	0.0055	-83	c.828 others(98): Show c.828+485_828+567delCATGCTCTCGCCTCCACATACACCTTTGCC CCAGCGGCCTGCCAGATAGAGCTTCCAGCTGCCCCTTCCTGAGCGTCCCT GTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PROKR2_chr20_5294218_5321954	5320439	TGGGCATG others(76): Show TGGGCATGGTGGTAAATGCCTGTGGTCTCAACTACTTGGGAGGCAGAGGT GGAATCACTTGAGCCCAGAAGTTTGAGGCTGCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	424	0.0024	-83	c.-40 others(94): Show c.-4037_-3955delTTGCAGCCTCAAACTTCTGGGCTCAAGTGATTCC ACCTCTGCCTCCCAAGTAGTTGAGACCACAGGCATTTACCACCATGCCC	PROKR2	ENSG00000101292.8	transcript	ENST00000678254.1	protein_coding		3486		chr20	TogoVar
PRTN3_chr19_835999_853175	841508	GTGAACGA others(76): Show GTGAACGAATGAATGAGTGAATGAATCAATGAGTGAGTGAATGAATGAGT GAATGAGTGAATGAATGAGTGAATGAGTGAATGA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	415	0.0024	-83	c.61+ others(96): Show c.61+440_61+522delTGAACGAATGAATGAGTGAATGAATCAATGAG TGAGTGAATGAATGAGTGAATGAGTGAATGAATGAGTGAATGAGTGAATG A	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	1/4			chr19	TogoVar
PUM1_chr1_30926506_31070717	30972290	AGGGGAGG others(76): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp2 HG03225.hp1 HG01069.hp1 HG02055.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0010 a0001c0005t0010 a0001c0002t0010 a0001c0005t0010	a0001c0002t0010g0032 a0001c0005t0010g0033 a0001c0005t0010g0174 a0001c0002t0010g0032 a0001c0005t0010g0033 a0001c0005t0010g0174	3	334	0.0090	-83	c.150 others(102): Show c.1506+2278_1506+2360delCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
RASA3_chr13_113972783_114137623	114103634	CCCACCCC others(76): Show CCCACCCCTGATGCGTTCACACTGCCCCCGGCCACAGACACCCACCCCTG ATGACACCGGAGCCCGAGTCTCGGCTCAGCACCA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02723.hp1 others(2): Show HG02257.hp1 HG02280.hp1 HG02723.hp1 NA18522.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0002c0004t0009 a0001c0001t0001 a0001c0001t0005 a0002c0004t0009	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0028 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0005g0023 a0002c0004t0009g0010	5	67	0.0746	-83	c.55+ others(100): Show c.55+28718_55+28800delTGGTGCTGAGCCGAGACTCGGGCTCCGG TGTCATCAGGGGTGGGTGTCTGTGGCCGGGGGCAGTGTGAACGCATCAGG GGTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBM20_chr10_110639336_110844468	110767080	GTGACCCC others(76): Show GTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGACCCCCCCCACCTC CCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01081.hp1 others(17): Show HG00639.hp1 HG00639.hp2 HG01081.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG02055.hp2 HG02083.hp1 HG02257.hp2 HG02300.hp1 HG02615.hp1 NA18522.hp2 NA18906.hp1 NA18959.hp1 NA18983.hp1 NA19043.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0002c0002t0001 a0002c0002t0007	a0001c0001t0001g0067 a0001c0001t0001g0126 a0001c0001t0001g0141 others(17): Show a0001c0001t0001g0067 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0172 a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0002g0120 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0004g0195 a0001c0003t0001g0011 a0001c0003t0001g0023 a0001c0003t0001g0051 a0001c0003t0002g0008 a0001c0003t0004g0007 a0002c0002t0001g0134 a0002c0002t0007g0190	20	268	0.0746	-83	c.192 others(102): Show c.192-13710_192-13628delACCTCCCTCCCGGACGGGGCGGCTGA CCCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGA CCCCCCC	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RGPD4_chr2_107821892_107897544	107882231	TGACTCAT others(76): Show TGACTCATTTCCACCTCTTCATCTGTTTCTCGTGAGAATTTCTTGATGTG TCTCATCTACTTTTTCTCCTCTTGTATTAGCTTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01070.hp2 others(8): Show HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01243.hp1 HG01496.hp1 HG01934.hp1 HG01943.hp1 HG02293.hp2 HG02300.hp1	a0005 a0009 a0033 a0005 a0009 a0033	a0005c0005 a0009c0011 a0033c0050 a0005c0005 a0009c0011 a0033c0050	a0005c0005t0004 a0009c0011t0004 a0033c0050t0004 a0005c0005t0004 a0009c0011t0004 a0033c0050t0004	a0005c0005t0004g0354 a0005c0005t0004g0355 a0005c0005t0004g0356 others(8): Show a0005c0005t0004g0354 a0005c0005t0004g0355 a0005c0005t0004g0356 a0005c0005t0004g0358 a0005c0005t0004g0363 a0005c0005t0004g0366 a0009c0011t0004g0359 a0009c0011t0004g0360 a0009c0011t0004g0361 a0009c0011t0004g0362 a0033c0050t0004g0357	11	374	0.0294	-83	c.506 others(100): Show c.5065-440_5065-358delGACTCATTTCCACCTCTTCATCTGTTTC TCGTGAGAATTTCTTGATGTGTCTCATCTACTTTTTCTCCTCTTGTATTA GCTTG	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	21/22			chr2	TogoVar
SARDH_chr9_133658560_133743352	133668782	TCCCTCAC others(76): Show TCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCT CCCCTCACCCTCCCTCTCCCTCACCCTCCATCTC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03834.hp2 HG04204.hp2 HG02135.hp2 HG03834.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0013 a0002c0015 a0002c0003 a0002c0013 a0002c0015	a0002c0003t0002 a0002c0013t0002 a0002c0015t0001 a0002c0003t0002 a0002c0013t0002 a0002c0015t0001	a0002c0003t0002g0009 a0002c0013t0002g0230 a0002c0015t0001g0120 a0002c0003t0002g0009 a0002c0013t0002g0230 a0002c0015t0001g0120	3	262	0.0115	-83	c.249 others(102): Show c.2495+1719_2495+1801delGAGATGGAGGGTGAGGGAGAGGGAGG GTGAGGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAGG GTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCGB2A2_chr11_62265158_62278160	62277933	CGTCTCCC others(76): Show CGTCTCCCTCTCGCTCTCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGC CGAAGCTGGACTGTACTGCTGCCATCTCGGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02129.hp2 HG02523.hp2 others(3): Show HG01884.hp1 HG02129.hp2 HG02523.hp2 HG03139.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0044	6	390	0.0154	-83	c.49 others(94): Show c.4939_*5021delGTCTCCCTCTCGCTCTCCCTCTCCCCACGGTCTC CCTCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGGCTCA	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4774		chr11	TogoVar
SDK1_chr7_3296252_4274000	3962935	GTGGGTAC others(76): Show GTGGGTACACCCAGGCTCACAGCTACCTGACCTGGACGTATCCAGTGAGT ACACTCAGCTCCATGGCTACCTGGATGTAACCAC	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0004 a0004	a0004c0001 a0004c0001	a0004c0001t0003 a0004c0001t0003	a0004c0001t0003g0037 a0004c0001t0003g0037	1	116	0.0086	-83	c.142 others(100): Show c.1429+143_1429+225delTCCATGGCTACCTGGATGTAACCACTGG GTACACCCAGGCTCACAGCTACCTGACCTGGACGTATCCAGTGAGTACAC TCAGC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	9/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN2_chr2_241310925_241359027	241338821	TTATATAT others(76): Show TTATATATAATATATATAATAAATATATAATATATATAAAAATATATATA TTTAATATATCTATAATATATATTATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02451.hp1 others(7): Show HG01496.hp1 HG01884.hp1 HG02451.hp1 HG02622.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0146 others(5): Show a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0146 a0001c0001t0008g0148 a0001c0001t0013g0147 a0001c0001t0013g0150 a0001c0001t0013g0151 a0001c0001t0013g0152	10	408	0.0245	-83	c.594 others(100): Show c.594+1038_594+1120delTAATATATATAATAAATATATAATATAT ATAAAAATATATATATTTAATATATCTATAATATATATTATATATATTAT ATATA	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHROOM2_chrX_9781429_9954443	9792063	ATAGAATA others(76): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19012.hp1 HG01496.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0048 a0002c0002 a0001c0048 a0002c0002	a0001c0048t0001 a0002c0002t0009 a0001c0048t0001 a0002c0002t0009	a0001c0048t0001g0171 a0002c0002t0009g0106 a0001c0048t0001g0171 a0002c0002t0009g0106	2	256	0.0078	-83	c.165 others(100): Show c.165+5354_165+5436delTAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAG	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9			chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50618276	TCCCCTTC others(76): Show TCCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0004 a0020c0016t0004	a0020c0016t0004g0014 a0020c0016t0004g0014	1	175	0.0057	-83	c.295 others(102): Show c.2957+9255_2957+9337delGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SIGIRR_chr11_400716_419999	412623	GAACATGT others(76): Show GAACATGTCTGGATACAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCT GGATACAGTCGGGGGGGGGGGGTGCCCAGCTCTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	242	0.0041	-83	c.-15 others(102): Show c.-154+2117_-154+2199delTAGAGCTGGGCACCCCCCCCCCCCGA CTGTATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGACTGTATCCAG ACATGTT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070208	GGGCATCA others(76): Show GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	118	0.0085	-83	c.224 others(102): Show c.2241+3342_2241+3424delGTGTGCTGGGGGCTCACTGGGGGCTG CATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTG TGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070523	GAGCCCCC others(76): Show GAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0030 a0002c0010t0002g0030	1	118	0.0085	-83	c.224 others(102): Show c.2241+3027_2241+3109delGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACT GGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071999	GAGCCCCC others(76): Show GAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA20752.hp1 HG03710.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0052 a0001c0001t0001g0056	2	118	0.0170	-83	c.224 others(102): Show c.2241+1551_2241+1633delGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATACCGTGTGCT GGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072805	GAGCCCCC others(76): Show GAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG02698.hp2 others(2): Show HG00639.hp2 HG00733.hp1 HG02698.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0002c0004t0022 a0001c0001t0001 a0002c0004t0001 a0002c0004t0022	a0001c0001t0001g0052 a0001c0001t0001g0094 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0052 a0001c0001t0001g0094 a0001c0001t0001g0103 a0002c0004t0001g0041 a0002c0004t0022g0087	5	118	0.0424	-83	c.224 others(100): Show c.2241+745_2241+827delGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATACCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46600324	AAAGGAAG others(76): Show AAAGGAAGGAAGGAAGGAAAGGAAAAGAAAGGAAAGGAAAGAAAAGGAAG GGAAAGGAAAGGGAGGGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0373 a0001c0002t0002g0373	1	390	0.0026	-83	c.542 others(98): Show c.542-370_542-288delCCTTTCTTTCTTTCTTTCCCTCCCTTTCCT TTCCCTTCCTTTTCTTTCCTTTCCTTTCTTTTCCTTTCCTTCCTTCCTTC CTT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	3/12			chr20	TogoVar
SLC22A3_chr6_160343378_160457577	160456350	GGGGAGAA others(76): Show GGGGAGAATTTCGACCTCCCTCTGAGAAGCTGAGAACACCCATTGATCTG ATGTCATCAACATATAGAAAATCGATAAACAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	318	0.0031	-83	c.52 others(94): Show c.5295_*5377delGGGAGAATTTCGACCTCCCTCTGAGAAGCTGAGA ACACCCATTGATCTGATGTCATCAACATATAGAAAATCGATAAACAGAT	SLC22A3	ENSG00000146477.6	transcript	ENST00000275300.3	protein_coding		3774		chr6	TogoVar
SLC35B4_chr7_134284332_134321930	134296897	TAGCTACA others(76): Show TAGCTACAAAATTAGCAATTCAAAACTTATTAATTTATTTTTGAGACAGA GTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGG	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0056 a0003c0005t0056	a0003c0005t0056g0137 a0003c0005t0056g0137	1	342	0.0029	-83	c.674 others(98): Show c.674-514_674-432delCCACTGCACTCCAGCCTGGATGACAGAGTG AGACTCTGTCTCAAAAATAAATTAATAAGTTTTGAATTGCTAATTTTGTA GCT	SLC35B4	ENSG00000205060.11	transcript	ENST00000378509.9	protein_coding	8/9			chr7	TogoVar
SLC43A3_chr11_57401954_57432121	57403440	AGAAGAGG others(76): Show AGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAGG AAGAAGAGGAAGAAGAAAAGAAGAGGAAGAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG03041.hp2 others(2): Show HG01243.hp1 HG02451.hp1 HG03041.hp2 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0012 a0001c0001 a0001c0009 a0001c0012	a0001c0001t0005 a0001c0001t0027 a0001c0009t0018 others(1): Show a0001c0001t0005 a0001c0001t0027 a0001c0009t0018 a0001c0012t0005	a0001c0001t0005g0013 a0001c0001t0005g0083 a0001c0001t0027g0203 others(2): Show a0001c0001t0005g0013 a0001c0001t0005g0083 a0001c0001t0027g0203 a0001c0009t0018g0044 a0001c0012t0005g0075	5	330	0.0152	-83	c.42 others(94): Show c.4269_*4351delCTCTTCTTCCTCTTCTTTTCTTCTTCCTCTTCTT CCTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3513		chr11	TogoVar
SLC9A3_chr5_465456_529449	469479	GGTGTCAG others(76): Show GGTGTCAGCGGGCCCTTCTGTCCCTGTGAGGACCTCACAAGGCTGGCCCA CGGGCCCCATGCAGTGCAGGTGGGAGAGGTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	218	0.0046	-83	c.38 others(94): Show c.3817_*3899delTCCCACCTCTCCCACCTGCACTGCATGGGGCCCG TGGGCCAGCCTTGTGAGGTCCTCACAGGGACAGAAGGGCCCGCTGACAC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		976		chr5	TogoVar
SMIM10L1_chr12_11166194_11181016	11168268	GAAAGAAA others(76): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01981.hp1 HG02273.hp1 others(4): Show HG01361.hp1 HG01981.hp1 HG02273.hp1 HG02683.hp1 HG02723.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	7	397	0.0176	-83	c.-30 others(94): Show c.-3088_-3006delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2925		chr12	TogoVar
SNTG2_chr2_945849_1372613	1027755	ATGCGTCT others(76): Show ATGCGTCTGACCCACAGACACTACCCAGCAAGTAACTCATGCATCTCTGT TGAGTAAAGAGATAAGCAGGTGCATCACTGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0080 a0003c0007t0001g0080	1	190	0.0053	-83	c.73- others(100): Show c.73-55687_73-55605delACTGAAGGTGCGTCTGACCCACAGACAC TACCCAGCAAGTAACTCATGCATCTCTGTTGAGTAAAGAGATAAGCAGGT GCATC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX8_chr7_2246770_2319441	2278589	CACTCACT others(76): Show CACTCACTCACACTACGGAGTCGACGCCGGACTCACTCACACTACGGAGT CGAAGCCGGACTCACACTACGGAGTCGACGCCGG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02809.hp1 others(3): Show HG02451.hp2 HG02572.hp2 HG02809.hp1 HG03486.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0034 a0001c0001t0014 a0001c0001t0034	a0001c0001t0014g0047 a0001c0001t0014g0278 a0001c0001t0014g0295 others(3): Show a0001c0001t0014g0047 a0001c0001t0014g0278 a0001c0001t0014g0295 a0001c0001t0014g0298 a0001c0001t0014g0300 a0001c0001t0034g0299	6	370	0.0162	-83	c.95- others(96): Show c.95-367_95-285delCCGGCGTCGACTCCGTAGTGTGAGTCCGGCTT CGACTCCGTAGTGTGAGTGAGTCCGGCGTCGACTCCGTAGTGTGAGTGAG T	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SORBS1_chr10_95306773_95566371	95392209	ACATGAAA others(76): Show ACATGAAAACCACAAATCAAGGATCAAGAAATCCAGAGACTCTCTTGAAA TGGTTTAAAAAAAAAAAAAAAAAAACCTCAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp2 NA19240.hp1 HG02258.hp1 HG02965.hp2 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0032 a0006c0018 a0001c0032 a0006c0018	a0001c0032t0002 a0006c0018t0011 a0001c0032t0002 a0006c0018t0011	a0001c0032t0002g0129 a0006c0018t0011g0111 a0006c0018t0011g0113 a0001c0032t0002g0129 a0006c0018t0011g0111 a0006c0018t0011g0113	3	300	0.0100	-83	c.136 others(102): Show c.1360+2319_1360+2401delGTTTTGAGGTTTTTTTTTTTTTTTTT TTAAACCATTTCAAGAGAGTCTCTGGATTTCTTGATCCTTGATTTGTGGT TTTCATG	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	15/32			chr10	TogoVar
SOWAHC_chr2_109609364_109623990	109620465	GCCGAGGC others(76): Show GCCGAGGCAGGAGCATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCC AACATGGTGAAACCCAGTCTCTACAAAAAATACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	-83	c.43 others(94): Show c.4399_*4481delCCGAGGCAGGAGCATCGCCTGAGGTCAGGAGTTC AAGACCAGCCTGGCCAACATGGTGAAACCCAGTCTCTACAAAAAATACA	SOWAHC	ENSG00000198142.5	transcript	ENST00000356454.5	protein_coding		1476		chr2	TogoVar
SPACA3_chr17_32986847_33002877	32996530	TCAACAAA others(76): Show TCAACAAATTTATTGGGCCCTACTATGTGCTGAACAATGAGATAATGGGA AGACTGCTGGGCTAAAAGTCAAGAGGCCTGAGGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0368 a0006c0008t0001g0368	1	470	0.0021	-83	c.344 others(98): Show c.344-310_344-228delACAAATTTATTGGGCCCTACTATGTGCTGA ACAATGAGATAATGGGAAGACTGCTGGGCTAAAAGTCAAGAGGCCTGAGG CCA	SPACA3	ENSG00000141316.13	transcript	ENST00000269053.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
STK38L_chr12_27239286_27330959	27240915	TTATATAT others(76): Show TTATATATATTACATATATGACTATGTATAGTTATATATATTACATATAT GACTATGTATAGTTATATATATTACATATATGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03239.hp2 HG03579.hp2 HG01891.hp1 HG03239.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0002 a0001c0001t0009 a0001c0003t0002	a0001c0001t0009g0291 a0001c0001t0009g0293 a0001c0003t0002g0118 a0001c0001t0009g0291 a0001c0001t0009g0293 a0001c0003t0002g0118	3	374	0.0080	-83	c.-34 others(94): Show c.-3428_-3346delTATATATATTACATATATGACTATGTATAGTTAT ATATATTACATATATGACTATGTATAGTTATATATATTACATATATGAC	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3370		chr12	TogoVar
STK38L_chr12_27239286_27330959	27240946	TTATATAT others(76): Show TTATATATATTACATATATGACTATGTATAGTTATATATATTACATATAT GACTGTATAGTTATATATATTACATATATGACTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01123.hp2 others(29): Show HG00733.hp2 HG00741.hp2 HG01123.hp2 HG01496.hp1 HG01928.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02109.hp1 HG02148.hp2 HG02155.hp1 HG02683.hp2 HG03492.hp2 HG04199.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18947.hp1 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18972.hp1 NA18978.hp1 NA18981.hp2 NA18998.hp1 NA19010.hp2 NA19072.hp2 NA19079.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 others(29): Show a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0002g0116 a0001c0001t0002g0144 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0220 a0001c0001t0003g0143 a0001c0003t0002g0014	32	374	0.0856	-83	c.-33 others(94): Show c.-3397_-3315delTATATATATTACATATATGACTATGTATAGTTAT ATATATTACATATATGACTGTATAGTTATATATATTACATATATGACTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3339		chr12	TogoVar
TACR3_chr4_103581031_103724985	103650618	TTATATAT others(76): Show TTATATATAAATATATAATATATATTTAATATATATAAATATATATAAAT AAATATATATTATATCATATATAATATATATTTA	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0278 a0001c0001t0049g0278	1	280	0.0036	-83	c.888 others(100): Show c.888+5493_888+5575delTAAATATATATTATATATGATATAATAT ATATTTATTTATATATATTTATATATATTAAATATATATTATATATTTAT ATATA	TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4			chr4	TogoVar
TACR3_chr4_103581031_103724985	103650793	ATATATTT others(76): Show ATATATTTTATATATAATAATATATTATATAATAATATATATATCTTATA TATAATAATATATATATCTCATATATAATAATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02896.hp1 HG03516.hp2 HG01167.hp1 HG02896.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0007 a0001c0001t0040 a0001c0007t0002 a0001c0001t0007 a0001c0001t0040 a0001c0007t0002	a0001c0001t0007g0267 a0001c0001t0040g0269 a0001c0007t0002g0129 a0001c0001t0007g0267 a0001c0001t0040g0269 a0001c0007t0002g0129	3	280	0.0107	-83	c.888 others(100): Show c.888+5318_888+5400delATATTATTATATATGAGATATATATATT ATTATATATAAGATATATATATTATTATATAATATATTATTATATATAAA ATATA	TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4			chr4	TogoVar
TARS2_chr1_150482419_150512602	150506491	CACACACA others(76): Show CACACACACACACACACACACACACAGTTTCTCTCTGTGGGGTTCTCATT GTTTGTCTTTCTCTGCTTGACTCTAATGTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0306 a0001c0001t0004g0306	1	400	0.0025	-83	c.200 others(100): Show c.2009-399_2009-317delGTTTCTCTCTGTGGGGTTCTCATTGTTT GTCTTTCTCTGCTTGACTCTAATGTCTCTGACACACACACACACACACAC ACACA	TARS2	ENSG00000143374.18	transcript	ENST00000369064.8	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF12_chr15_56913644_57294853	57170629	TATATATA others(76): Show TATATATATATATAATATATATATTATATAAAATATATATATATATAATA TATTATATATAATATATATTATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02572.hp1 others(14): Show HG02055.hp2 HG02451.hp1 HG02572.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0035 a0001c0002t0037 a0001c0004t0005 a0001c0001t0035 a0001c0002t0037 a0001c0004t0005	a0001c0001t0035g0301 a0001c0002t0037g0038 a0001c0004t0005g0135 others(14): Show a0001c0001t0035g0301 a0001c0002t0037g0038 a0001c0004t0005g0135 a0001c0004t0005g0136 a0001c0004t0005g0137 a0001c0004t0005g0138 a0001c0004t0005g0139 a0001c0004t0005g0140 a0001c0004t0005g0141 a0001c0004t0005g0142 a0001c0004t0005g0143 a0001c0004t0005g0144 a0001c0004t0005g0145 a0001c0004t0005g0146 a0001c0004t0005g0147 a0001c0004t0005g0148 a0001c0004t0005g0149	17	330	0.0515	-83	c.390 others(100): Show c.390+4174_390+4256delATAATATATATATTATATAAAATATATA TATATATAATATATTATATATAATATATATTATATATAATATATAATATA TATAT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TECRL_chr4_64272702_64414450	64308678	CTTCTTGG others(76): Show CTTCTTGGTTGTGAGACGAGAACTCAGACCTCACTAAACTAAGGCATAAG GAGATGGTAACAGAAGCATTTTACAAATACTATT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	272	0.0037	-83	c.657 others(100): Show c.657+1065_657+1147delAATAGTATTTGTAAAATGCTTCTGTTAC CATCTCCTTATGCCTTAGTTTAGTGAGGTCTGAGTTCTCGTCTCACAACC AAGAA	TECRL	ENSG00000205678.8	transcript	ENST00000381210.8	protein_coding	6/11			chr4	TogoVar
TENM2_chr5_166974029_168269157	167646157	ATATATAT others(76): Show ATATATATATATGTTGTTTTCATATATATATATATGTTGTTTTCATATAT ATATATATATATATATATATATATGTTGTTTTCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01943.hp2 HG02145.hp2 others(8): Show HG01891.hp2 HG01943.hp2 HG02145.hp2 HG02630.hp2 HG02818.hp2 HG02895.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp2 NA19043.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0007	a0001c0002 a0001c0010 a0001c0012 others(8): Show a0001c0002 a0001c0010 a0001c0012 a0001c0018 a0001c0023 a0001c0027 a0001c0031 a0001c0038 a0004c0033 a0006c0013 a0007c0020	a0001c0002t0002 a0001c0010t0001 a0001c0012t0023 others(8): Show a0001c0002t0002 a0001c0010t0001 a0001c0012t0023 a0001c0018t0003 a0001c0023t0021 a0001c0027t0008 a0001c0031t0026 a0001c0038t0030 a0004c0033t0005 a0006c0013t0027 a0007c0020t0001	a0001c0002t0002g0032 a0001c0010t0001g0043 a0001c0012t0023g0016 others(8): Show a0001c0002t0002g0032 a0001c0010t0001g0043 a0001c0012t0023g0016 a0001c0018t0003g0023 a0001c0023t0021g0024 a0001c0027t0008g0005 a0001c0031t0026g0014 a0001c0038t0030g0011 a0004c0033t0005g0018 a0006c0013t0027g0015 a0007c0020t0001g0044	11	54	0.2037	-83	c.503 others(104): Show c.503-229819_503-229737delATGTTGTTTTCATATATATATATA TGTTGTTTTCATATATATATATATATATATATATATATATGTTGTTTTCT TATATATAT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM4_chr11_78647829_79446030	79190879	CTCTCCCG others(76): Show CTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp2 HG03098.hp1 others(1): Show HG00741.hp2 HG02280.hp2 HG03098.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0036 others(1): Show a0001c0001 a0001c0005 a0001c0036 a0001c0039	a0001c0001t0001 a0001c0005t0002 a0001c0036t0007 others(1): Show a0001c0001t0001 a0001c0005t0002 a0001c0036t0007 a0001c0039t0046	a0001c0001t0001g0022 a0001c0005t0002g0032 a0001c0036t0007g0074 others(1): Show a0001c0001t0001g0022 a0001c0005t0002g0032 a0001c0036t0007g0074 a0001c0039t0046g0057	4	94	0.0426	-83	c.-16 others(104): Show c.-163+24846_-163+24928delCGGGAGAGGGAGAGGGAGACGGGA GAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGA GACGGGAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1291144	TGCCTCAC others(76): Show TGCCTCACTCACCCTATACCTGGGAGGGACACCCAGGGACGGTGCCTCAC TCACCCTACACGTGACAGGGACACCTGGGGCCGC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03516.hp2 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0194 a0001c0001t0003g0195 a0001c0001t0002g0194 a0001c0001t0003g0195	2	392	0.0051	-83	c.157 others(102): Show c.1573+2086_1573+2168delGCGGCCCCAGGTGTCCCTGTCACGTG TAGGGTGAGTGAGGCACCGTCCCTGGGTGTCCCTCCCAGGTATAGGGTGA GTGAGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TMEM132D_chr12_129066726_129909025	129388337	GACACCAA others(76): Show GACACCAATACTAACACCAACACCAATCCAGCACTGATGATAATATTAAC ACTAACACGAATCCTAATATAAACACTAACAGCA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02965.hp1 others(3): Show HG02280.hp1 HG02486.hp1 HG02965.hp1 HG03195.hp2 HG03579.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0012 a0001c0001t0025 others(3): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0025 a0001c0001t0027 a0001c0002t0001 a0002c0003t0008	a0001c0001t0003g0065 a0001c0001t0012g0002 a0001c0001t0025g0091 others(3): Show a0001c0001t0003g0065 a0001c0001t0012g0002 a0001c0001t0025g0091 a0001c0001t0027g0094 a0001c0002t0001g0052 a0002c0003t0008g0090	6	94	0.0638	-83	c.111 others(104): Show c.1116-50603_1116-50521delTGCTGTTAGTGTTTATATTAGGAT TCGTGTTAGTGTTAATATTATCATCAGTGCTGGATTGGTGTTGGTGTTAG TATTGGTGT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8			chr12	TogoVar
TMEM144_chr4_158205486_158260416	158257129	ATATTATA others(76): Show ATATTATATATAGTATTATATATAATATATAGTATTATATATAGTATTAT ATATAGTATTATATATATTATATATAGTATTATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02976.hp1 HG03130.hp2 others(2): Show HG02280.hp1 HG02976.hp1 HG03130.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0034 a0001c0002t0036 others(1): Show a0001c0001t0007 a0001c0001t0034 a0001c0002t0036 a0001c0002t0070	a0001c0001t0007g0033 a0001c0001t0034g0049 a0001c0002t0036g0025 others(1): Show a0001c0001t0007g0033 a0001c0001t0034g0049 a0001c0002t0036g0025 a0001c0002t0070g0066	5	274	0.0183	-83	c.36 others(94): Show c.3603_*3685delTATTATATATAGTATTATATATAATATATAGTAT TATATATAGTATTATATATAGTATTATATATATTATATATAGTATTATG	TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding		1714		chr4	TogoVar
TMEM239_chr20_2811364_2823062	2822556	CTCTCCCT others(76): Show CTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-83	c.55 others(94): Show c.5544_*5626delTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCG	TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding		4495		chr20	TogoVar
TMPRSS2_chr21_41459305_41513158	41474830	AGTGAGGG others(76): Show AGTGAGGGGGTGAGTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGAGGGGG TGGGTGAGGGGTGGGTGAGGGGGTGAGTGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp2 HG01071.hp1 others(22): Show HG00438.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG02109.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02683.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA18946.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0001c0008 a0002c0003 others(4): Show a0001c0002 a0001c0008 a0002c0003 a0002c0006 a0002c0007 a0002c0009 a0009c0017	a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 others(11): Show a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0008t0007 a0002c0003t0001 a0002c0003t0004 a0002c0006t0001 a0002c0006t0010 a0002c0007t0001 a0002c0007t0003 a0002c0007t0010 a0002c0009t0001 a0002c0009t0004 a0009c0017t0001	a0001c0002t0005g0213 a0001c0002t0005g0215 a0001c0002t0006g0159 others(20): Show a0001c0002t0005g0213 a0001c0002t0005g0215 a0001c0002t0006g0159 a0001c0002t0006g0249 a0001c0002t0006g0257 a0001c0002t0007g0072 a0001c0002t0007g0146 a0001c0002t0007g0155 a0001c0008t0007g0002 a0001c0008t0007g0311 a0002c0003t0001g0073 a0002c0003t0001g0254 a0002c0003t0004g0318 a0002c0006t0001g0357 a0002c0006t0010g0082 a0002c0006t0010g0196 a0002c0007t0001g0333 a0002c0007t0003g0019 a0002c0007t0003g0055 a0002c0007t0010g0147 a0002c0009t0001g0334 a0002c0009t0004g0091 a0009c0017t0001g0253	25	382	0.0655	-83	c.728 others(100): Show c.728-1417_728-1335delCCCCTCACTCACCCCCTCACCCACCCCT CACCCACCCCCTCACCCCCTCACTCACCCCTTCACCCCCTCACTCACCCC CTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMTC2_chr12_82681906_83139866	82876217	GGATATGA others(76): Show GGATATGAAGTGATTGACTTTGGCAGGTGGTAGTGATGTTGATGGGATGG TAGTGTGTTTCTCACAGTGTTTACCTTCCAGGTA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	96	0.0104	-83	c.654 others(102): Show c.654+18663_654+18745delGTGGTAGTGATGTTGATGGGATGGTA GTGTGTTTCTCACAGTGTTTACCTTCCAGGTAGATATGAAGTGATTGACT TTGGCAG	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPD52L2_chr20_63860270_63896538	63888727	ATCCCTGT others(76): Show ATCCCTGTAGGGGACAGCAGAGAGGGGCCGACAGCCCCCCAACTGCGCAG ACTTTTCATAACCTCAGTACGAGAGCCCGGGGTG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01261.hp2 others(4): Show HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01978.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0201 a0001c0001t0001g0202 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0248 a0001c0001t0001g0249	7	368	0.0190	-83	c.477 others(98): Show c.477-417_477-335delGCAGACTTTTCATAACCTCAGTACGAGAGC CCGGGGTGTCCCTGTAGGGGACAGCAGAGAGGGGCCGACAGCCCCCCAAC TGC	TPD52L2	ENSG00000101150.18	transcript	ENST00000346249.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr20	TogoVar

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