Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
KIF13B_chr8_29062278_29268070	29228472	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03492.hp2 HG03239.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0266 a0001c0001t0003g0147 a0001c0001t0001g0266 a0001c0001t0003g0147	2	288	0.0069	47	c.149 others(66): Show c.149+16873_149+16874insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTT		KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	2/39						chr8	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(40): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0180 a0001c0003t0037g0180	1	375	0.0027	47	c.-22 others(58): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					462		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997259	G G	GGGGTCGG others(40): Show GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	375	0.0027	47	c.-22 others(58): Show c.-2210_-2209insGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					411		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997458	G G	GGGGTCGG others(40): Show GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0274 a0001c0001t0008g0274	1	375	0.0027	47	c.-20 others(58): Show c.-2011_-2010insGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					212		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997483	G G	GGGGTCGG others(40): Show GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG00741.hp1 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0012 a0001c0001t0002g0013	2	375	0.0053	47	c.-19 others(58): Show c.-1986_-1985insGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					187		chr6	TogoVar
KIF27_chr9_83829099_83926432	83834915	G G	GTATATAT others(40): Show GTATATATATAATACTATATATAATATATATATATTATATATATAGTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0033 a0001c0002t0010g0033	1	346	0.0029	47	c.20 others(58): Show c.2085_*2086insTACTATATATATAATATATATATATTATATATAG TATTATATATATA		KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	18/18				2085		chr9	TogoVar
KIF2C_chr1_44734837_44772767	44738054	T T	TTCCCCCC others(40): Show TTCCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTTCTCCCCCTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	374	0.0027	47	c.-18 others(58): Show c.-1879_-1878insTCCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTTC TCCCCCTCCCCCC		KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding					1782		chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738054	T T	TTCCCCCT others(40): Show TTCCCCCTCCCCCTCCCACCTCCTCCCCCCCTTCTCCCCCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0300 a0001c0004t0001g0300	1	374	0.0027	47	c.-18 others(58): Show c.-1879_-1878insTCCCCCTCCCCCTCCCACCTCCTCCCCCCCTTCT CCCCCTCCCCCCC		KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding					1782		chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738054	T T	TTCCCCCT others(40): Show TTCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTTCTCCCCCTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01361.hp1 HG02602.hp1 others(14): Show HG00609.hp1 HG01361.hp1 HG02602.hp1 HG02602.hp2 HG02976.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp2 NA18939.hp1 NA18953.hp1 NA18962.hp1 NA18989.hp1 NA19001.hp1 NA19077.hp1 NA19080.hp1 NA19083.hp2 NA19091.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0003c0008 a0004c0009 a0006c0010	a0001c0001t0001 a0001c0004t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0002 a0003c0008t0001 a0004c0009t0002 a0006c0010t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0024 others(14): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0196 a0001c0004t0001g0249 a0002c0002t0002g0011 a0002c0002t0002g0122 a0002c0002t0002g0127 a0002c0002t0002g0142 a0003c0008t0001g0191 a0004c0009t0002g0124 a0006c0010t0001g0027	17	374	0.0455	47	c.-18 others(58): Show c.-1879_-1878insTCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTTC TCCCCCTCCCCCC		KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding					1782		chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738054	T T	TTCCCCCT others(40): Show TTCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTTCTCCCCCTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02055.hp2 HG03139.hp2 HG00642.hp1 HG02055.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0002 a0001c0003t0003	a0001c0003t0002g0150 a0001c0003t0002g0156 a0001c0003t0003g0139 a0001c0003t0002g0150 a0001c0003t0002g0156 a0001c0003t0003g0139	3	374	0.0080	47	c.-18 others(58): Show c.-1879_-1878insTCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTTC TCCCCCTCCCTCC		KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding					1782		chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738054	T T	TTCCCCCT others(40): Show TTCCCCCTCCCCCTCCCCCCTCCTCCCCCCCCTTCTCCCCCTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03831.hp1 NA18977.hp2 others(2): Show HG01891.hp2 HG03831.hp1 NA18977.hp2 NA18978.hp1 NA18998.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0001c0001t0007 a0008c0013t0002 a0001c0001t0001 a0001c0001t0007 a0008c0013t0002	a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0282 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0282 a0001c0001t0007g0243 a0008c0013t0002g0097	5	374	0.0134	47	c.-18 others(58): Show c.-1879_-1878insTCCCCCTCCCCCTCCCCCCTCCTCCCCCCCCTTC TCCCCCTCCCCCC		KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding					1782		chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738054	T T	TTCCCCCT others(40): Show TTCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTTCTCCCCCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00621.hp1 others(47): Show HG00544.hp1 HG00544.hp2 HG00621.hp1 HG01099.hp2 HG01106.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02145.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02698.hp2 HG02738.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG04204.hp1 NA18939.hp2 NA18942.hp2 NA18949.hp1 NA18964.hp2 NA18966.hp1 NA18974.hp1 NA18980.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp2 NA19063.hp1 NA19067.hp2 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19091.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0002c0002 a0007c0011	a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0002c0002t0002 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0160 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0003t0002g0019 a0001c0004t0001g0086 a0001c0005t0001g0004 a0001c0005t0001g0009 a0001c0005t0001g0042 a0001c0005t0001g0235 a0002c0002t0002g0011 a0002c0002t0002g0079 a0002c0002t0002g0090 a0002c0002t0002g0107 a0002c0002t0002g0114 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0002g0123 a0002c0002t0002g0134 a0002c0002t0002g0140 a0002c0002t0002g0267 a0007c0011t0001g0038	50	374	0.1337	47	c.-18 others(58): Show c.-1879_-1878insTCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTTCT CCCCCTCCCCCCC		KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding					1782		chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738055	T T	TCCCCCTC others(40): Show TCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTTCTCCCCCTCCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0102 a0002c0002t0002g0102	1	374	0.0027	47	c.-18 others(58): Show c.-1878_-1877insCCCCCTCCCCCTCCCCCCTCCTCCCCCCCTTCTC CCCCTCCCCCCTC		KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding					1781		chr1	TogoVar
KIF2C_chr1_44734837_44772767	44738055	T T	TCCCCCTC others(40): Show TCCCCCTCCCCCTCCCCCTCCTCCCCCCCTTCTCCCCCTCCCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0002 a0005c0015t0002	a0005c0015t0002g0089 a0005c0015t0002g0089	1	374	0.0027	47	c.-18 others(58): Show c.-1878_-1877insCCCCCTCCCCCTCCCCCTCCTCCCCCCCTTCTCC CCCTCCCCCCTCC		KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding					1781		chr1	TogoVar
KIF6_chr6_39324990_39730408	39346162	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	174	0.0058	47	c.223 others(64): Show c.2231+313_2231+314insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAG		KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	20/22						chr6	TogoVar
KLC3_chr19_45335750_45356519	45336376	T T	TTTGGGAG others(40): Show TTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	434	0.0023	47	c.-44 others(58): Show c.-4479_-4478insTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAG GAGATCAAGACCA		KLC3	ENSG00000104892.17	transcript	ENST00000391946.7	protein_coding					4373		chr19	TogoVar
KLHL29_chr2_23380179_23713606	23711342	C C	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0113 a0001c0002t0003g0113	1	160	0.0063	47	c.46 others(58): Show c.4678_*4679insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding					2737		chr2	TogoVar
KLHL36_chr16_84643511_84672686	84644147	G G	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0015 a0001c0002t0009g0015	1	448	0.0022	47	c.-45 others(58): Show c.-4519_-4518insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAA		KLHL36	ENSG00000135686.13	transcript	ENST00000564996.6	protein_coding					4363		chr16	TogoVar
KLK4_chr19_50901351_50916395	50913441	T T	TCCTGTCT others(40): Show TCCTGTCTCTGTCTCACCTTGCCTTCTCTCTCTGTCTGTGTCTCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	414	0.0024	47	c.-21 others(58): Show c.-2115_-2114insTGTGGAGACACAGACAGAGAGAGAAGGCAAGGTG AGACAGAGACAGG		KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding					2047		chr19	TogoVar
KLK5_chr19_50938303_50958038	50949723	T T	TTCCATGA others(40): Show TTCCATGACACCCCCAACCCCACTTCCCCGTCCCCACCAGCCCTCACC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	380	0.0026	47	c.335 others(61): Show c.335+85_335+131dupGGTGAGGGCTGGTGGGGACGGGGAAGTGGGG TTGGGGGTGTCATGGA		KLK5	ENSG00000167754.13	transcript	ENST00000336334.8	protein_coding	3/5						chr19	TogoVar
KLRC3_chr12_10407315_10425595	10418668	A A	ACCCCCTA others(40): Show ACCCCCTATACAAACCCACAAATAAAAAAAAAACACCTACTACACCAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	448	0.0022	47	c.332 others(62): Show c.332-171_332-170insGTGGTGTAGTAGGTGTTTTTTTTTTATTTG TGGGTTTGTATAGGGGG		KLRC3	ENSG00000205810.9	transcript	ENST00000396439.7	protein_coding	3/6						chr12	TogoVar
KRT23_chr17_40917700_40942646	40929074	A A	AATAGCCT others(40): Show AATAGCCTCCATGATTACTGACTTGATCCGTGGTTGAAAATATTTCAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19030.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	2	437	0.0046	47	c.637 others(62): Show c.637-514_637-468dupCTGAAATATTTTCAACCACGGATCAAGTCA GTAATCATGGAGGCTAT		KRT23	ENSG00000108244.17	transcript	ENST00000209718.8	protein_coding	4/8						chr17	TogoVar
KRTAP13-1_chr21_30391031_30401822	30396114	T T	TTCTCCTC others(40): Show TTCTCCTCCCGCTCCTGTGGTGGCTACCTGCACTACCCAGCCTCCTCC	frameshift_variant frameshift_variant	HIGH	NA18993.hp1 NA18993.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0000 a0008c0006t0001g0000	1	424	0.0024	47	c.30_ others(52): Show c.30_76dupCTCCTCCCGCTCCTGTGGTGGCTACCTGCACTACCCAGCC TCCTCCT	p.Cys others(4): Show p.Cys26fs	KRTAP13-1	ENSG00000198390.5	transcript	ENST00000355459.4	protein_coding	1/1	133/792	77/519	26/172		INFO_REALIGN_3_PRIME	chr21	TogoVar
LAMA5_chr20_62304065_62372312	62309634	A A	AGGGTGGG others(40): Show AGGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGTGGGAGGGGGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0082 a0001c0082	a0001c0082t0002 a0001c0082t0002	a0001c0082t0002g0012 a0001c0082t0002g0012	1	186	0.0054	47	c.109 others(64): Show c.10948+81_10948+82insACCCCCTCCCACCCCCCCACCCCTCCAC CCCCTGCCCCCTCCCACCC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62309635	G G	GGGTGGGA others(40): Show GGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGGTGGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01192.hp2 HG02055.hp2 others(1): Show HG00423.hp1 HG01192.hp2 HG02055.hp2 HG03017.hp2	a0001 a0022 a0043 others(1): Show a0001 a0022 a0043 a0092	a0001c0010 a0022c0074 a0043c0097 others(1): Show a0001c0010 a0022c0074 a0043c0097 a0092c0023	a0001c0010t0002 a0022c0074t0001 a0043c0097t0002 others(1): Show a0001c0010t0002 a0022c0074t0001 a0043c0097t0002 a0092c0023t0001	a0001c0010t0002g0117 a0022c0074t0001g0134 a0043c0097t0002g0088 others(1): Show a0001c0010t0002g0117 a0022c0074t0001g0134 a0043c0097t0002g0088 a0092c0023t0001g0009	4	186	0.0215	47	c.109 others(64): Show c.10948+80_10948+81insACCCCCTCCCACCCCCCCCACCCCTCCA CCCCCTGCCCCCTCCCACC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62309636	G G	GGTGGGAG others(40): Show GGTGGGAGGGGGCAGGGGGTGGAGGGGGTGGGGGGGGTGGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0119 a0001c0010t0001g0119	1	186	0.0054	47	c.109 others(64): Show c.10948+79_10948+80insACCCCCTCCCACCCCCCCCACCCCCTCC ACCCCCTGCCCCCTCCCAC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349742	G G	GGTGGGGG others(40): Show GGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0145 a0001c0007t0001g0145	1	186	0.0054	47	c.956 others(64): Show c.956+1961_956+1962insATCACCATCATCACCCCCACCCCCACCA TCACCACCCCCACCCCCAC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79						chr20	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0192 a0001c0005t0003g0192	1	300	0.0033	47	c.218 others(62): Show c.218+246_218+247insATATATATATATATATATATATATATATAT ATATATATATATATGTA		LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12						chr4	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0194 a0001c0003t0003g0194	1	300	0.0033	47	c.218 others(62): Show c.218+246_218+247insATATATATATATATATATATATATATATAT ATATATATATGTATGTA		LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12						chr4	TogoVar
LARP4_chr12_50395885_50485004	50446356	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	318	0.0031	47	c.804 others(64): Show c.804+4728_804+4729insCCCCCCCCCTTCCCCTCCCCCTCCCCCT CTCCCTCTCTCTCTCTCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446356	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0180 a0003c0003t0001g0180	1	318	0.0031	47	c.804 others(64): Show c.804+4730_804+4731insCCCCCCCTTCCCCTCCCCCTCCCCCTCT CCCTCTCTCTCTCTCTCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446358	T T	TCTCTCTC others(40): Show TCTCTCTCCCCCCCCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0294 a0001c0001t0006g0294	1	318	0.0031	47	c.804 others(64): Show c.804+4722_804+4723insCCCCCCCCCCCTCCCCCTTCCCCTCCCC CTCCCCCTCTCCCTCTCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446358	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCCCCCCCCCTTCCCCTCCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	318	0.0031	47	c.804 others(64): Show c.804+4730_804+4731insCCCCCCCCTTCCCCTCCCCCCTCCCCCT CTCCCTCTCTCTCTCTCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446360	T T	TCTCCCCC others(40): Show TCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	318	0.0031	47	c.804 others(64): Show c.804+4720_804+4721insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTCTCCCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446364	T T	TCTCCCCC others(40): Show TCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0265 a0004c0004t0001g0265	1	318	0.0031	47	c.804 others(64): Show c.804+4724_804+4725insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTCTCCCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446366	T T	TCTCCCCC others(40): Show TCTCCCCCCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	318	0.0031	47	c.804 others(64): Show c.804+4726_804+4727insCCCCCCCCCTCCCCCTCCCCCTTCCCCT CCCCCTCCCCCTCTCCCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446368	T T	TCTCCCCC others(40): Show TCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	318	0.0031	47	c.804 others(64): Show c.804+4728_804+4729insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTCTCCCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446378	T T	TCTCTCCC others(40): Show TCTCTCCCCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	318	0.0031	47	c.804 others(64): Show c.804+4740_804+4741insCCCCCCCTCCCCCTCCCCCTTCCCCTCC CCCTCCCCCTCTCCCTCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LCN10_chr9_136733170_136747940	136736181	G G	GGGCCCAG others(40): Show GGGCCCAGGGAAGGGGGGCGCAGAGCCCGAGCCCCCAGGACAGAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02976.hp1 HG01074.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	392	0.0051	47	c.33 others(58): Show c.3343_*3344insTGGCTCTGTCCTGGGGGCTCGGGCTCTGCGCCCC CCTTCCCTGGGCC		LCN10	ENSG00000187922.14	transcript	ENST00000497771.6	protein_coding					1988		chr9	TogoVar
LCN10_chr9_136733170_136747940	136736181	G G	GGGCCCAG others(40): Show GGGCCCAGGGAAGGGGGGCGCAGAGCCCGAGCCCCCGGGACAGAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00609.hp2 others(44): Show HG00140.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG03017.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18944.hp2 NA18981.hp2 NA18988.hp1 NA18995.hp1 NA18998.hp1 NA19009.hp2 NA19011.hp1 NA19063.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(2): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0010	a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0051 others(5): Show a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0051 a0002c0002t0002g0055 a0002c0002t0003g0003 a0002c0002t0003g0041 a0002c0002t0008g0048 a0002c0002t0010g0050	47	392	0.1199	47	c.33 others(58): Show c.3343_*3344insTGGCTCTGTCCCGGGGGCTCGGGCTCTGCGCCCC CCTTCCCTGGGCC		LCN10	ENSG00000187922.14	transcript	ENST00000497771.6	protein_coding					1988		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769194	A A	ACCCCCCC others(40): Show ACCCCCCCATGCACTGCCCCCCCCCGCCACCCCCCCATGCACTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	47	c.-47 others(58): Show c.-4707_-4706insGGGGCAGTGCATGGGGGGGTGGCGGGGGGGGGCA GTGCATGGGGGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4677		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769510	A A	ACCCCTCC others(40): Show ACCCCTCCATGCACTGCCCCCCCCCGCCACCCCTCCATGCACTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	47	c.-50 others(58): Show c.-5023_-5022insGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGGCA GTGCATGGAGGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4993		chr9	TogoVar
LEP_chr7_128236278_128262629	128258721	C C	CTTTTCTT others(40): Show CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	395	0.0051	47	c.39 others(58): Show c.3958_*3959insTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT		LEP	ENSG00000174697.5	transcript	ENST00000308868.5	protein_coding					1093		chr7	TogoVar
LEP_chr7_128236278_128262629	128258733	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00639.hp2 others(15): Show HG00099.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01109.hp1 HG01123.hp1 HG01258.hp2 HG01361.hp1 HG01934.hp1 HG02080.hp1 HG02300.hp2 HG04115.hp1 HG04199.hp1 NA19002.hp2 NA19057.hp1 NA19065.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0027 a0001c0001t0042	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0021 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0004g0002 a0001c0001t0004g0005 a0001c0001t0004g0048 a0001c0001t0017g0005 a0001c0001t0027g0002 a0001c0001t0042g0001	18	395	0.0456	47	c.39 others(58): Show c.3970_*3971insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTCT		LEP	ENSG00000174697.5	transcript	ENST00000308868.5	protein_coding					1105		chr7	TogoVar
LGSN_chr6_63270951_63324983	63281302	A A	AAAATATA others(40): Show AAAATATATATATATATATATATATATATATATATATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	312	0.0032	47	c.331 others(60): Show c.331-83_331-82insATTATATATATATATATATATATATATATATA TATATATATATATTT		LGSN	ENSG00000146166.17	transcript	ENST00000370657.9	protein_coding	3/3						chr6	TogoVar
LGSN_chr6_63270951_63324983	63281304	A A	AATATATA others(40): Show AATATATATATATATATATATATATATATATATAATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0193 a0001c0001t0015g0193	1	312	0.0032	47	c.331 others(60): Show c.331-85_331-84insATATATATATTTATTATATATATATATATATA TATATATATATATAT		LGSN	ENSG00000146166.17	transcript	ENST00000370657.9	protein_coding	3/3						chr6	TogoVar
LHFPL7_chr22_24930098_24951694	24950354	C C	CCTCTTTG others(40): Show CCTCTTTGGTCAGGGTCTACCTCTGGGTATGTGCGAGCTGGCATCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	420	0.0024	47	c.-38 others(58): Show c.-3801_-3800insAGAGATGCCAGCTCGCACATACCCAGAGGTAGAC CCTGACCAAAGAG		LHFPL7	ENSG00000206069.7	transcript	ENST00000640159.2	protein_coding					3661		chr22	TogoVar
LHPP_chr10_124456823_124619141	124507550	G G	GGGGGGGT others(40): Show GGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	260	0.0039	47	c.624 others(64): Show c.624+9422_624+9423insGGGGGGTAGGGAGGATTTCAGGTGGGCG GGTAGACAGGATTTCAGGT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6						chr10	TogoVar
LHPP_chr10_124456823_124619141	124507747	G G	GGGGGGGT others(40): Show GGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	260	0.0039	47	c.625 others(64): Show c.625-9433_625-9432insGGGGGGTAGGGAGGATTTCAGGTGGGCG GGTAGACAGGATTTCAGGT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6						chr10	TogoVar
LLPH_chr12_66111555_66135750	66125067	C C	CCCCGCAA others(40): Show CCCCGCAAAAAAAAGAACTGGTAGGCGCTGGTAAGAACATGTTAAGAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	364	0.0028	47	c.212 others(64): Show c.212-1096_212-1050dupATCTTAACATGTTCTTACCAGCGCCTAC CAGTTCTTTTTTTTGCGGG		LLPH	ENSG00000139233.7	transcript	ENST00000266604.7	protein_coding	2/2						chr12	TogoVar

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