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
AFDN_chr6_167821911_167977023	167976167	C C	CAGGAGGC others(377): Show CAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAG GCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTG GGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTC ACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCC TGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGT GGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAG GAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGAC AGTGGGGGTCACTCCCCCTGCAGTGTGCGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	239	0.0042	384	c.62 others(395): Show c.6232_*6233insAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTG TGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGG GAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAG GAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGT GGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCA TTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCT GCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTG GGGGGAGGAGAAGACAGTGGGGGTCACTCCCCCTGCAGTGTGCGGGGAGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4145		chr6	TogoVar
AFDN_chr6_167821911_167977023	167976167	C C	CAGGAGGC others(377): Show CAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAG GCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTG GGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTC ACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCC TGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGT GGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAG GAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGAC AGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp2 others(61): Show HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01884.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02717.hp1 HG03225.hp2 HG03471.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 NA18941.hp2 NA18946.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18992.hp2 NA19004.hp2 NA19009.hp1 NA19030.hp2 NA19064.hp2 NA19079.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0012 a0003c0008 others(1): Show a0001c0001 a0002c0012 a0003c0008 a0005c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0012t0002 a0003c0008t0002 a0005c0019t0002	a0001c0001t0002g0007 a0001c0001t0002g0036 a0001c0001t0002g0041 others(61): Show a0001c0001t0002g0007 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0097 a0001c0001t0002g0110 a0001c0001t0002g0126 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0213 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0306 a0001c0001t0003g0098 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0002c0012t0002g0263 a0003c0008t0002g0246 a0003c0008t0002g0251 a0003c0008t0002g0252 a0005c0019t0002g0258	64	302	0.2119	384	c.62 others(395): Show c.6232_*6233insAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTG TGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGG GAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAG GAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGT GGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCA TTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCT GCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTG GGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4145		chr6	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(377): Show TACGTATACGTATACACACATATACACGTATACGTATACACACATATACA CGTATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTA CACACATATACACGTATATACGTATACGTGTACACACATATATATACACG TATATATACGTATACGTGTACACACACACACGTATATATACGTATACGTG TACACACACACGTATATATACGTATACGTGTACACACACACGTATATATA CGTATACGTGTACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	104	0.0096	384	c.48- others(401): Show c.48-70722_48-70721insGTATACGTATACACACATATACACGTAT ACGTATACACACATATACACGTATACGTATACGTGTACACACATATACAC GTATATACGTATACGTGTACACACATATACACGTATATACGTATACGTGT ACACACATATATATACACGTATATATACGTATACGTGTACACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATATACGTATACGTGTACACACACGTATATATACGT ATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGT ATATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACAC ACACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581421	T T	TATACGTA others(377): Show TATACGTATACGTGTACACACATATATATACACGTATATATACGTATACG TGTACACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TACGTATACGTGTACACACACACACGTATATACGTCTACGTGTACACACA CATACACGTATATACGTCTACGTGTACACACATATACACGTCTACGTGTA CACACATATACACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0072 a0001c0001t0011g0072	1	150	0.0067	384	c.48- others(401): Show c.48-70577_48-70576insTACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACACGTATA TACGTCTACGTGTACACACACATACACGTATATACGTCTACGTGTACACA CATATACACGTCTACGTGTACACACATATACACGTCTACGTGTACACACA TATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(377): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCC CGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACC TCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCAC CTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0027 a0004c0003t0027	a0004c0003t0027g0099 a0004c0003t0027g0099	1	92	0.0109	384	c.-37 others(395): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCA CCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTC CCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCA CCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCC CTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(377): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACC TCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCT ACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCC CGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACC TCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCAC CTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02895.hp2 others(5): Show HG02055.hp2 HG02572.hp1 HG02895.hp2 HG02897.hp1 HG03225.hp1 HG03486.hp2 NA18906.hp1 NA19240.hp1	a0001 a0005 a0014 a0001 a0005 a0014	a0001c0001 a0005c0005 a0014c0012 a0001c0001 a0005c0005 a0014c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0045 a0005c0005t0039 a0014c0012t0020	a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0263 others(5): Show a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0006g0262 a0001c0001t0012g0254 a0001c0001t0045g0252 a0005c0005t0039g0250 a0014c0012t0020g0236	8	99	0.0808	384	c.-37 others(395): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCA CCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCC CCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCA CCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTC CCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCA CCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCC CTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
ALG13_chrX_111676170_111765649	111721071	A A	AAGAAGGA others(377): Show AAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAA TTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGA AGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCT TCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03516.hp2 NA20300.hp1 HG02615.hp2 HG03516.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0002t0001 a0004c0007t0001 a0001c0001t0001 a0001c0002t0001 a0004c0007t0001	a0001c0001t0001g0015 a0001c0002t0001g0020 a0004c0007t0001g0017 a0001c0001t0001g0015 a0001c0002t0001g0020 a0004c0007t0001g0017	3	23	0.1304	384	c.132 others(400): Show c.1327-425_1327-42dupAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTT AATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATA GAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATT CTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAG GAAGA	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARID1B_chr6_156772378_157215779	157147298	A A	ACCCTGCC others(377): Show ACCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCT CACCCCAGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCC TGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACC CCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCGCCTCCGACCCTGCC CTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCAG CCTCCGGCCCTGCCCTCCGTCCCTCACCTCCGCCTCCGGCCCTGCCCTCC GTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTC CGGCCCTGTCCTCCGTCCCCCACCCCAGCCTCCGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG03453.hp1 others(1): Show HG01884.hp2 HG02280.hp2 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0051 a0001c0001t0004g0060 a0001c0001t0004g0149 others(1): Show a0001c0001t0004g0051 a0001c0001t0004g0060 a0001c0001t0004g0149 a0001c0001t0006g0083	4	133	0.0301	384	c.276 others(403): Show c.2762-1318_2762-1317insGCCTTCCCTCACCCCCGCCTCCGGCC CTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCCTCCGTCCCCCAC CCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGC CCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCC GCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTC CGTCCCCCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCTCACCTCCGCCT CCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTC CCCCACCCCCGCCTCCGGCCCTGTCCTCCGTCCCCCACCCCAGCCTCCGG CCCTGCCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ATP10A_chr15_25673712_25868327	25757816	T T	TCACCTGC others(377): Show TCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGA CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCTATCACCTGCTCCACCCTAACTCATTCCGAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	267	0.0037	384	c.655 others(403): Show c.655-21676_655-21675insGTCGGAATGAGTTAGGGTGGAGCAGG TGATAGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGA ATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25757928	C C	CCACCTGC others(377): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGA CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0034 a0034	a0034c0036 a0034c0036	a0034c0036t0001 a0034c0036t0001	a0034c0036t0001g0182 a0034c0036t0001g0182	1	249	0.0040	384	c.655 others(403): Show c.655-21788_655-21787insATCGGAATGAGTTAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGA ATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25757956	C C	CCACCTGC others(377): Show CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGA CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0142 a0005c0005t0001g0142	1	251	0.0040	384	c.655 others(403): Show c.655-21816_655-21815insATCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTA GGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGT CGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTG ATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGG AGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160654092	G G	GTATATAC others(377): Show GTATATACGTATATACATATATAAATATATGTTGTATATACGTATATACA TATATAAATATATGTTGTATATACGTATATACTATATATGTTGTATATAC GTATATACAACATAAATATATGTTGTATATACGTATATACAACATAAATA TATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTAT ATACATATATAAATATATGTTGTATATACGTATATACATATATAAATATA TGTTGTATATACATATATACATATATAAATATATGTTGTATATACGTATA TACATATATAAATATATGTTGTATATACGTATATACATATAAATATATGT TGTATATACGTATATACATATATAAATATATGTTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0023 a0023	a0023c0024 a0023c0024	a0023c0024t0008 a0023c0024t0008	a0023c0024t0008g0178 a0023c0024t0008g0178	1	216	0.0046	384	c.676 others(401): Show c.676-4837_676-4836insTAACATATATTTATATATGTATATACGT ATATACAACATATATTTATATGTATATACGTATATACAACATATATTTAT ATATGTATATACGTATATACAACATATATTTATATATGTATATATGTATA TACAACATATATTTATATATGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATA CAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTG TATATACGTATATACAACATATATAGTATATACGTATATACAACATATAT TTATATATGTATATACGTATATACAACATATATTTATATATGTATATACG TATATA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160654092	G G	GTATATAC others(377): Show GTATATACGTATATACATATATAAATATATGTTGTATATACGTATATACA TATATAAATATATGTTGTATATACGTATATACTATATATGTTGTATATAC GTATATACAACATAAATATATGTTGTATATACGTATATACAACATAAATA TATGTTGTATATACGTATATAGAACATAAATATATGTTGTATATACGTAT ATACATATATAAATATATGTTGTATATACGTATATACATATATAAATATA TGTTGTATATACGTATATACATATATAAATATATGTTGTATATACGTATA TACATATATAAATATATGTTGTATATACGTATATACATATAAATATATGT TGTATATACATATATACATATATAAATATATGTTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp1 HG03471.hp1 others(1): Show HG02717.hp1 HG02895.hp1 HG03471.hp1 NA18986.hp2	a0001 a0009 a0001 a0009	a0001c0005 a0009c0016 a0001c0005 a0009c0016	a0001c0005t0012 a0009c0016t0012 a0001c0005t0012 a0009c0016t0012	a0001c0005t0012g0002 a0001c0005t0012g0004 a0009c0016t0012g0164 others(1): Show a0001c0005t0012g0002 a0001c0005t0012g0004 a0009c0016t0012g0164 a0009c0016t0012g0188	4	219	0.0183	384	c.676 others(401): Show c.676-4837_676-4836insTAACATATATTTATATATGTATATATGT ATATACAACATATATTTATATGTATATACGTATATACAACATATATTTAT ATATGTATATACGTATATACAACATATATTTATATATGTATATACGTATA TACAACATATATTTATATATGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATATATTTATGTTCTATATACGTATATA CAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTG TATATACGTATATACAACATATATAGTATATACGTATATACAACATATAT TTATATATGTATATACGTATATACAACATATATTTATATATGTATATACG TATATA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112804365	C C	CCCTCCTT others(377): Show CCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCC TTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCT CCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCC CTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTG CCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCA TCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCC CCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0136 a0001c0006t0001g0136	1	245	0.0041	384	c.163 others(399): Show c.163-553_163-552insGTTCCCCTCCTTCCCTCCTTCACCTCCCTC CCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCC TCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTC CTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTC CTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTC CCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGT TCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCATCCCCTCTCTGCCCT CCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGC CCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	83025309	G G	GGACACCG others(377): Show GGACACCGCGGAGAGTCCACACACGGACACCGCGGAGAGTCCACACACGG ACACCGCGGAGAGTCCACACACACATAGAAACTGTGAAGTCCACACACAC ACAGACACCGCGGAGTCCACACACGGACACCGCGGAGAGTCCACACACAC ATAGAAACTGTGAAGTCCACACACACACGGACACCGCGGAGTCCACACAC GGACACCGTGGAGAGTCCACACACACATAGAAACTGTGAAGTCCACACAC ACACGGACACCGCGGAGAGTCCACACACACATAGAAACTGTGAAGTCCAC ACACACATGGACACCGCGGAGTCCACACACGGACACCGTGGAGAGTCCAC ACACACATAGAAACTGTGAAGTCCACACACACACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0017 a0001c0006t0018g0017	1	253	0.0040	384	c.297 others(401): Show c.297+9725_297+9726insTGTGTGTGTGTGGACTTCACAGTTTCTA TGTGTGTGTGGACTCTCCACGGTGTCCGTGTGTGGACTCCGCGGTGTCCA TGTGTGTGTGGACTTCACAGTTTCTATGTGTGTGTGGACTCTCCGCGGTG TCCGTGTGTGTGTGGACTTCACAGTTTCTATGTGTGTGTGGACTCTCCAC GGTGTCCGTGTGTGGACTCCGCGGTGTCCGTGTGTGTGTGGACTTCACAG TTTCTATGTGTGTGTGGACTCTCCGCGGTGTCCGTGTGTGGACTCCGCGG TGTCTGTGTGTGTGTGGACTTCACAGTTTCTATGTGTGTGTGGACTCTCC GCGGTGTCCGTGTGTGGACTCTCCGCGGTGTCCGTGTGTGGACTCTCCGC GGTGTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374967	A A	AAGGGAGG others(377): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03927.hp1 HG00140.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0155 a0002c0002t0001g0142 a0002c0002t0001g0155	2	158	0.0127	384	c.784 others(399): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BOK_chr2_241553745_241579131	241570460	G G	GTGGGGGT others(377): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGT GGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGC GAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCTGAGCG CCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACAGGAGGGA GTGGTGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGGAGAGCTGGG GTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTG AGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGA GGGAGTGGCGGATGGGTGAGTGTCTGAGTGCCTGT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0217 a0001c0001t0007g0217	1	115	0.0087	384	c.513 others(399): Show c.513+172_513+173insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTA CAGACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGG GGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGG ATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAGGTACAGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCCTGT GGGGGTGGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTG GCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCG AGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGTGC CTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
BOK_chr2_241553745_241579131	241570996	T T	TGGGGGTG others(377): Show TGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTG GCGGATGGGTGAGTGTCTGAGCGCCCGTGGGGGTGGGAGAGCTGGGGTGC GAGGGTACAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCG CCCGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGGAGGG AGTGGCGGATGGGTGAGTGTCTGAGCGCCCGTGGGGGTGGGAGAGCTGGG GTGCGAGGGTACAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTG AGCGCCCGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGG AGGGAGTGGCGGATGGGTGAGTGTCTGATCGCCTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18960.hp2 NA19056.hp2 others(3): Show HG01934.hp2 NA18960.hp2 NA19056.hp2 NA19067.hp2 NA19074.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0119 a0001c0001t0001g0006 a0001c0001t0001g0119	6	363	0.0165	384	c.513 others(399): Show c.513+736_513+737insACAGACGTACGGGAGGGAGTGGCGGATGGG TGAGTGTCTGAGCGCCCGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACA GAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCCGTGGGG GTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGGAGGGAGTGGCGGA TGGGTGAGTGTCTGAGCGCCCGTGGGGGTGGGAGAGCTGGGGTGCGAGGG TACAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCCGT GGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGGAGGGAGTGG CGGATGGGTGAGTGTCTGATCGCCTGGGGGGTGGGAGAGCTGGGGTGCGA GGGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(377): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19240.hp1 HG01243.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0047 a0001c0001t0001 a0001c0001t0047	a0001c0001t0001g0340 a0001c0001t0047g0337 a0001c0001t0001g0340 a0001c0001t0047g0337	2	289	0.0069	384	c.92- others(401): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(377): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG TGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	1	288	0.0035	384	c.92- others(401): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGTGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(377): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGTGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	1	288	0.0035	384	c.92- others(401): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGTGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(377): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGTGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01099.hp2 others(5): Show HG00280.hp2 HG01081.hp1 HG01099.hp2 HG02080.hp1 HG02698.hp2 HG03239.hp1 HG03831.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0002c0002t0005 a0002c0002t0030	a0001c0001t0001g0336 a0001c0001t0003g0192 a0001c0001t0004g0172 others(5): Show a0001c0001t0001g0336 a0001c0001t0003g0192 a0001c0001t0004g0172 a0001c0001t0004g0187 a0002c0002t0002g0169 a0002c0002t0005g0207 a0002c0002t0030g0170 a0002c0002t0030g0173	8	295	0.0271	384	c.92- others(401): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG TGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGT GCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423826	A A	AGGCCTCC others(377): Show AGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGC GTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGC CTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTC CGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCC CCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG TGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCG CTGGGCGTTCCGGGTGCCCCGGGCCTCCCCCGCTGGGCGTTCCGGGTGCC CCGGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp1 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0021 a0001c0001t0001g0031	2	354	0.0056	384	c.92- others(401): Show c.92-12200_92-12199insGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCGGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCGGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCGGGCCTCCC CCGCTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C17orf67_chr17_56786913_56838920	56792822	G G	GTGATGGT others(377): Show GTGATGGTGATGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGT GATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGG TGATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGG TGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTG GTGATGGTGATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGT GATGGTGATGATGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	243	0.0041	384	c.21 others(399): Show c.21-471_*21-470insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCACC ATCACCACCACCACCATCACCACCATCATCACCATCACCACCATCATCAC CACCACCATCACCACCATCACCACCACCATCACCACCATCATCACCATCA CCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCATCACCATCACCATCATCAC CATCACCACCATCATCACCATCACCACCACCATCACCACCATCACCACCA CCATCACCACCATCACCATCACCACCACCACCACCACCACCATCATCACC ATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C1orf159_chr1_1076823_1121089	1080816	C C	CCTCGGTC others(377): Show CCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCT TCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTC GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0312 a0001c0001t0021g0312	1	323	0.0031	384	c.20 others(395): Show c.2076_*2077insATGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC CGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGG AAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1006		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080820	G G	GGTCCCTG others(377): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACC TCGGTCCCTGTCTCCTTCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01952.hp1 NA18945.hp1 HG01934.hp2 HG01952.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0084 a0001c0001t0001g0096 a0001c0001t0001g0051 a0001c0001t0001g0084 a0001c0001t0001g0096	3	315	0.0095	384	c.20 others(395): Show c.2072_*2073insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1002		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(377): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACC TCGGTCCCTGTCTCCTTCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01081.hp2 NA19085.hp1 HG00438.hp1 HG01081.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0161 a0001c0001t0001g0214 a0001c0001t0001g0042 a0001c0001t0001g0161 a0001c0001t0001g0214	3	209	0.0144	384	c.19 others(395): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(377): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCATCTCTGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACC TCGGTCCCTGTCTCCTTCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	207	0.0048	384	c.19 others(395): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
CABLES1_chr18_23130485_23265470	23218396	G G	GCTCCCGC others(377): Show GCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	247	0.0040	384	c.108 others(403): Show c.1088+4342_1088+4343insCTCCCGCATCCTCACTTGCCCTGGCT CCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCC CGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCG CATCCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCA TCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATC CTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCT CACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCA CTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACT TGCCCTGC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9			chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218469	C C	CTCCCGCA others(377): Show CTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCT CCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCC CGCATCCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCG CATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCA TCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATC CTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCT CACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCA CTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0005 a0001c0001t0017g0005	1	272	0.0037	384	c.108 others(403): Show c.1088+4461_1088+4462insGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTC ACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218564	C C	CCTCCCGC others(377): Show CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG02109.hp1 others(2): Show HG00738.hp1 HG01070.hp2 HG02109.hp1 HG03017.hp1 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0191 a0001c0001t0005g0226 a0001c0001t0005g0240 others(2): Show a0001c0001t0005g0191 a0001c0001t0005g0226 a0001c0001t0005g0240 a0002c0002t0001g0082 a0002c0002t0001g0129	5	237	0.0211	384	c.108 others(403): Show c.1088+4533_1088+4534insGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCAC TTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CAPN15_chr16_522712_559636	544701	A A	ACGTCGCC others(377): Show ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0003 a0004c0019t0003	a0004c0019t0003g0274 a0004c0019t0003g0274	1	374	0.0027	384	c.-22 others(401): Show c.-22-2109_-22-2108insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(377): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01071.hp1 others(12): Show HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG02683.hp2 HG03209.hp1 HG03669.hp1 HG04184.hp2 HG04228.hp2 NA18906.hp1 NA19004.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0008 a0003c0005t0003 a0001c0001t0003 a0001c0001t0008 a0003c0005t0003	a0001c0001t0003g0003 a0001c0001t0003g0088 a0001c0001t0003g0132 others(7): Show a0001c0001t0003g0003 a0001c0001t0003g0088 a0001c0001t0003g0132 a0001c0001t0003g0148 a0001c0001t0008g0003 a0001c0001t0008g0039 a0001c0001t0008g0041 a0001c0001t0008g0137 a0001c0001t0008g0142 a0003c0005t0003g0003	15	234	0.0641	384	c.803 others(398): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(377): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	220	0.0045	384	c.803 others(398): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGC GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(377): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01361.hp1 HG01952.hp1 others(1): Show HG01358.hp2 HG01361.hp1 HG01952.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0040 a0001c0001t0003g0139 others(1): Show a0001c0001t0003g0003 a0001c0001t0003g0040 a0001c0001t0003g0139 a0001c0001t0003g0163	4	223	0.0179	384	c.803 others(398): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGC GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(377): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC CTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCC TCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0241 a0001c0001t0009g0241	1	12	0.0833	384	c.-45 others(405): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH8_chr16_61642250_62041438	61960348	T T	TATGTGTG others(377): Show TATGTGTGTGTATACACACACACATATGTATATATGTATGTGCATACACA CACATATATGTATATATGTATGTGCATACACACACACACATGTATATATG TATGTGTATACACATACATATATACATATGTGTGTGTATACACATACATA TATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGTG TATACACATACATATATACATATGTGTGTATACACACATATATACATATG TGTGTATACACATACATATATACATATGTGTGTATACACACATATATACA TGTGTGTGTATACACATACATATATACATGTGTGTGTATACACATACATA TATACATGTGTGTGTGTATACACATACATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0004 a0001c0001t0016g0010 a0001c0001t0016g0004 a0001c0001t0016g0010	2	149	0.0134	384	c.253 others(403): Show c.253-58876_253-58875insGTATATATGTATGTGTATACACACAC ACATGTATATATGTATGTGTATACACACACATGTATATATGTATGTGTAT ACACACACATGTATATATGTGTGTATACACACATATGTATATATGTATGT GTATACACACATATGTATATATGTGTGTATACACACATATGTATATATGT ATGTGTATACACACACATATATGTATATGTGTATGTGCATACACACACAC ACATGTATATATGTATGTGTATACACACACATATGTATATATGTATGTGT ATACACATACATATATACATGTGTGTGTGTGTATGCACATACATATATAC ATATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTGTATAC ACACACAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(377): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG03098.hp2 others(2): Show HG01081.hp2 HG01168.hp2 HG03098.hp2 HG03139.hp2 NA18998.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0004c0017 a0009c0025	a0001c0001t0011 a0002c0002t0009 a0002c0003t0001 others(2): Show a0001c0001t0011 a0002c0002t0009 a0002c0003t0001 a0004c0017t0046 a0009c0025t0023	a0001c0001t0011g0299 a0002c0002t0009g0293 a0002c0003t0001g0221 others(2): Show a0001c0001t0011g0299 a0002c0002t0009g0293 a0002c0003t0001g0221 a0004c0017t0046g0034 a0009c0025t0023g0279	5	70	0.0714	384	c.-25 others(395): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(377): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0001	1	66	0.0152	384	c.-25 others(395): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(377): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0031 a0031	a0031c0066 a0031c0066	a0031c0066t0032 a0031c0066t0032	a0031c0066t0032g0026 a0031c0066t0032g0026	1	66	0.0152	384	c.-25 others(395): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(377): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0169 a0001c0004t0003g0169	1	66	0.0152	384	c.-25 others(395): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24881852	C C	CTATATAG others(377): Show CTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATAT AGATATATAATCTATATAGATATATAATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0236 a0001c0004t0001g0236	1	430	0.0023	384	c.13 others(395): Show c.1324_*1325insTAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATA GATGTATCTATATATCTATATAGATTATATATCTATATAGATTATATATC TATATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		426		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881896	C C	CTATATAT others(377): Show CTATATATATAATCTATATAGATATATAATCTATATAGATATATAGATAC ATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	1	428	0.0023	384	c.12 others(395): Show c.1280_*1281insTAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTA TATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGA TGTATCTATATATCTATATAGATTATATATCTATATAGATTATATATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		382		chr13	TogoVar
CFAP61_chr20_20047532_20365698	20337644	A A	ATGGATAG others(377): Show ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0008 a0001c0024t0008	a0001c0024t0008g0176 a0001c0024t0008g0176	1	131	0.0076	384	c.342 others(403): Show c.3423-4184_3423-4183insATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGG ATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGGTGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CIP2A_chr3_108544864_108594438	108575619	T T	TGTATATA others(377): Show TGTATATACACGTGTATATATACTCATATACATGTGTATATACACGTGTA TATATACTCATATACATGTGTATATACACGTGTATATATACTCATATACA TGTGTATATACACGTGTATATATACTCATATACATGAGTATATACACGTG TATATATACTCATATACATGAGTATATATACACGTGTATATATACTCATA TACATGAGTATATATACACGTGTATATATACTCATATACATGAGTATATA TACACGTGTATATATACTCATATACATGAGTATATATACACGTGTATATA TACTCATATACATGAGTATATATACACGTGTATATATACTCATATACATG AGTATATATACACGTGTATATACTCATATACATGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02572.hp2 others(1): Show HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0298 a0001c0003t0003g0005 a0001c0003t0003g0298	4	353	0.0113	384	c.894 others(399): Show c.894+651_894+652insTCATGTATATGAGTATATACACGTGTATAT ATACTCATGTATATGAGTATATATACACGTGTATATATACTCATGTATAT GAGTATATATACACGTGTATATATACTCATGTATATGAGTATATATACAC GTGTATATATACTCATGTATATGAGTATATATACACGTGTATATATACTC ATGTATATGAGTATATATACACGTGTATATATACTCATGTATATGAGTAT ATATACACGTGTATATACTCATGTATATGAGTATATATACACGTGTATAT ACACATGTATATGAGTATATATACACGTGTATATACACATGTATATGAGT ATATATACACGTGTATATACACATGTATATGAGTATATATACACGTGTAT ATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLCN6_chr1_11801191_11848130	11829529	T T	TGAACAAC others(377): Show TGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCA CAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAA CAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGA GGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAAC CCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGG AACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTG GCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACC TGGGAACAACCCTGGCGTCACAGAGGGGAACCTGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	238	0.0042	384	c.124 others(401): Show c.1248+380_1248+381insGTCACAGAGGGGAACCTGGGAACAACCC TGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAA CCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGC GTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTG GGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCA CAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAA CAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGA GGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAAC CCTGGC	CLCN6	ENSG00000011021.23	transcript	ENST00000346436.11	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(377): Show AATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATAAATATATATATAAATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATGTA AATATATATATAAATATATATAAATATATAAATATATATATAAATATATA AATATATAAATATATATGTAAATATATAAATATATAAATATATATGTAAA TATATAAATATATATAAATATATAAATATATATAAATATATAAATATATA TAAATACATATGTAAATATATAAATATATATAAATATATAAATATATATA GATATATATGTAAATATATATAAATATATATAGAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	120	0.0083	384	c.181 others(403): Show c.1812+3031_1812+3032insATCTATATATATTTATATATATTTAC ATATATATCTATATATATTTATATATTTATATATATTTATATATTTACAT ATGTATTTATATATATTTATATATTTATATATATTTATATATTTATATAT ATTTATATATTTACATATATATTTATATATTTATATATTTACATATATAT TTATATATTTATATATTTATATATATATTTATATATTTATATATATTTAT ATATATATTTACATATTTATATATATTTATATATATATTTATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATTTATATATATTT ATATATATATTTATATATTTATATATATTTATATATATTTATATATATAT TTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(377): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGA TGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTGGTG ATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGGTGGTGGTGA TGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTG GTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGT GGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGG TGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGCA GGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0139 a0001c0139	a0001c0139t0002 a0001c0139t0002	a0001c0139t0002g0088 a0001c0139t0002g0088	1	20	0.0500	384	c.371 others(403): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGGT GATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATG GCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGAT GATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGA TGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTG GTGATGTTGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGT GGTGGTGATGATGATGGCAGGGGTGGTGGTGGTGGTGATGATGGTGGGGG TGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(377): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGA TGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTGGTG ATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGGTGGTGGTGA TGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTG GTGATGTTGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGT GGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGG TGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGCG GGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03139.hp2 HG01243.hp1 HG03139.hp2	a0001 a0005 a0001 a0005	a0001c0134 a0005c0056 a0001c0134 a0005c0056	a0001c0134t0003 a0005c0056t0002 a0001c0134t0003 a0005c0056t0002	a0001c0134t0003g0069 a0005c0056t0002g0029 a0001c0134t0003g0069 a0005c0056t0002g0029	2	21	0.0952	384	c.371 others(403): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGGT GATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATG GCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGAT GATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGA TGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTG GTGATGTTGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGT GGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTGGGGG TGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AAGGGGGA others(377): Show AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0048 a0001c0007t0001g0048	1	294	0.0034	384	c.85- others(401): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar

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