Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(185): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01433.hp2 HG01496.hp2 others(3): Show HG01081.hp1 HG01433.hp2 HG01496.hp2 HG02809.hp2 NA19043.hp2 NA20752.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0015 a0030	a0001c0089 a0002c0053 a0005c0002 others(2): Show a0001c0089 a0002c0053 a0005c0002 a0015c0024 a0030c0040	a0001c0089t0002 a0002c0053t0019 a0005c0002t0003 others(3): Show a0001c0089t0002 a0002c0053t0019 a0005c0002t0003 a0005c0002t0050 a0015c0024t0014 a0030c0040t0036	a0001c0089t0002g0194 a0002c0053t0019g0092 a0005c0002t0003g0135 others(3): Show a0001c0089t0002g0194 a0002c0053t0019g0092 a0005c0002t0003g0135 a0005c0002t0050g0086 a0015c0024t0014g0246 a0030c0040t0036g0089	6	87	0.0690	192	c.341 others(207): Show c.3413-41_3413-40insCACTCCTGGGATGGGTGACTCCTGGGACAG GTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGT GACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGT		GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998583	T T	TGTACACA others(185): Show TGTACACACATATATACATATATGTGTACACACATATATACACATATATG TGTACACACATATATACACATATATGTGTACACACATATATACACATATA TGTGTACACACATATATACACATATATGTGTACACACATATATACACATA TATATGTACACATATATACACATATATATGTACACATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0102 a0004c0004t0002g0102	1	383	0.0026	192	c.167 others(209): Show c.1678-382_1678-381insGTACACACATATATACATATATGTGTAC ACACATATATACACATATATGTGTACACACATATATACACATATATGTGT ACACACATATATACACATATATGTGTACACACATATATACACATATATGT GTACACACATATATACACATATATATGTACACATATATACACATATATAT GTACACATATATAC		GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15						chr2	TogoVar
GRK5_chr10_119202571_119464745	119313188	A A	ATGATGGT others(185): Show ATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTAAT GATGGTAGTGGTGATGGTGGTGGTAATGGTAGTGGTGGTGGTGGTGGTAA TGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTA ATGATGGTAGTGGTGATGGTGATGATGGTAATGATGGTAGTGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	200	0.0050	192	c.53- others(209): Show c.53-13315_53-13314insGATGGTGGTGGTGGTGGTGATGGTGGTG ATGGTAATGATGGTAGTGGTGATGGTGGTGGTAATGGTAGTGGTGGTGGT GGTGGTAATGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGATGGTAATGATGGTAGTGGTGATGGTGATGATGGTAATGATGGTAGTG GTGATGGTGGTGGT		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCCC others(185): Show TCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	175	0.0057	192	c.427 others(209): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCTCTTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(185): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCT CCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0007 a0007	a0007c0051 a0007c0051	a0007c0051t0002 a0007c0051t0002	a0007c0051t0002g0089 a0007c0051t0002g0089	1	207	0.0048	192	c.427 others(209): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCCCCTCCTCCT		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15						chr16	TogoVar
GSE1_chr16_85608322_85681200	85653236	C C	CCTCCTCC others(185): Show CCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCC CTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0019 a0002c0004t0001g0019	1	253	0.0040	192	c.427 others(209): Show c.427-1041_427-1040insTCCTCCTCCCCCCTCTTCCCCCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GTF2IRD2_chr7_74791151_74856605	74805699	C C	CTGCACCC others(185): Show CTGCACCCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGCACCCACCACCACACCAGCTGATTTTTGTATTTTTA GTAAAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGAC CTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0001 a0003c0005t0003g0001	1	6	0.1667	192	c.950 others(208): Show c.950-1031_950-840dupAATCCCAGCACTTTGGGAGGCTGAGGCAG GTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGA AACCCCATCTTTACTAAAAATACAAAAATCAGCTGGTGTGGTGGTGGGTG CCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACC CAGGAGGGGTGCA		GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding	12/15						chr7	TogoVar
HAUS1_chr18_46099385_46133333	46112901	T T	TATATATA others(185): Show TATATATAATATATATAATGTGTATATATATTCCATATTATATATAATAT ATATAATGTGTATATATATTCCATATTATATATAATATATATAATGTGTA TATATATTCCATATTACATATATATAATATATAATGTGTATATATATTCC ATATTATATATATAATATATATAATGTGTATATATTCCATATA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp2 NA18994.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0088 a0001c0001t0001g0101	2	266	0.0075	192	c.206 others(209): Show c.206-5273_206-5272insATATATATAATGTGTATATATATTCCAT ATTATATATAATATATATAATGTGTATATATATTCCATATTATATATAAT ATATATAATGTGTATATATATTCCATATTACATATATATAATATATAATG TGTATATATATTCCATATTATATATATAATATATATAATGTGTATATATT CCATATAATATATA		HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
HCN2_chr19_584881_622159	585322	A A	ACCCCGTC others(185): Show ACCCCGTCGGTGGGTGCCCAGCGCGGAGGGGTGCGGAGGTGGATGTCCGC CCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCC CGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCCCG TCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0118 a0001c0118	a0001c0118t0012 a0001c0118t0012	a0001c0118t0012g0060 a0001c0118t0012g0060	1	370	0.0027	192	c.-46 others(203): Show c.-4624_-4623insCCCCGTCGGTGGGTGCCCAGCGCGGAGGGGTGCG GAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGA GGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGG TGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTG GATGTCCG		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding					4558		chr19	TogoVar
HCN2_chr19_584881_622159	585441	C C	CGGAGGGG others(185): Show CGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCG GAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGA GGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGG GGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTGCCTGGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0242 a0001c0022t0001g0242	1	389	0.0026	192	c.-45 others(203): Show c.-4505_-4504insGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGG TGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTG GGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGG TGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTG CCTGGCGT		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding					4439		chr19	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(185): Show TTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	96	0.0104	192	c.221 others(211): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCCTCCCTCC		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(185): Show TTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	96	0.0104	192	c.221 others(211): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCCTCCCTCC		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HEATR4_chr14_73473484_73563947	73546924	T T	TAAAAATA others(185): Show TAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	315	0.0032	192	c.-15 others(213): Show c.-152+11826_-152+11827insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGG CTAAATTTTTGTATTTTT		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	1/17						chr14	TogoVar
HEXD_chr17_82413347_82447645	82443764	G G	GGCCACGG others(185): Show GGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTG CCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTGCC ACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTGCCAC GGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18984.hp2 NA18991.hp2 others(1): Show NA18956.hp2 NA18984.hp2 NA18991.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0184 a0001c0001t0001g0005 a0001c0001t0001g0184	4	263	0.0152	192	c.13 others(203): Show c.1380_*1381insGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGG CACACCGGGAATGTGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCA CACCGGGAATGTGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACA CCGGGAATGTGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACC GGGAATGT		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding					1120		chr17	TogoVar
HIVEP3_chr1_41501365_41923922	41544964	C C	CATCACCA others(185): Show CATCACCACCACCACCACCATCACCTCTACCACCACCATCACCACCACCA CCACCATCACCACCTCTACCACCACCATCACCACCACCACTATCACCACC TCTACCACCACCATCACCACCACCACCACCACCACCTCTACCACCACCAT CACCACCACCACCACCACCACCTCTACCACCACCATCACTACT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0066 a0005c0005t0066	a0005c0005t0066g0016 a0005c0005t0066g0016	1	119	0.0084	192	c.520 others(213): Show c.5208-20055_5208-20054insAGTAGTGATGGTGGTGGTAGAGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGAT GGTGGTGGTGGTGGTGAT		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(185): Show TCCACCACCACCACCACCACCACCCCCACCGCCACCATCCCCCTCACCAC CACCACCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCA CCACCACCACCACCACCACCACCGCCACCATCCCCCTCACCACCACCACC ACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG01109.hp1	a0009 a0009	a0009c0039 a0009c0039	a0009c0039t0003 a0009c0039t0003	a0009c0039t0003g0000 a0009c0039t0003g0000	1	310	0.0032	192	c.316 others(199): Show c.316_317insACCACCCCCACCGCCACCATCCCCCTCACCACCACCAC CACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCA CCACCACCACCACCACCGCCACCATCCCCCTCACCACCACCACCACCACC ACCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCAC CACC	p.His others(205): Show p.His105_Pro106insHisHisProHisArgHisHisProProHisHi sHisHisHisHisHisHisHisHisProHisHisThrProHisHisLeuH isHisHisHisHisHisHisHisArgHisHisProProHisHisHisHis HisHisHisHisHisHisProHisHisThrProHisHisLeuHisHisHi sHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(185): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCG CCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	28	0.0357	192	c.124 others(207): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCC CGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCG CCTCCCCGCCTC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
HTR2C_chrX_114579086_114915061	114807369	C C	CTATACCA others(185): Show CTATACCATGTATATACGCCATATCTATACCATGTATATACGCCATATCT ATACCATGTATATACGCCATATATATACCATGTATATACGCCATATATAT ACCATATATATACGCCATATATATACCATATATATACGCCATATATATAC CATATATATACGCCATATATATACCATATATATACGCCATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	164	0.0061	192	c.350 others(211): Show c.350-40626_350-40625insGTATATACGCCATATCTATACCATGT ATATACGCCATATCTATACCATGTATATACGCCATATATATACCATGTAT ATACGCCATATATATACCATATATATACGCCATATATATACCATATATAT ACGCCATATATATACCATATATATACGCCATATATATACCATATATATAC GCCATATATATACCAT		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114807369	C C	CTATACCA others(185): Show CTATACCATGTATATACGCCATATCTATACCATGTATATACGCCATATCT ATACCATGTATATACGCCATATCTATACCATGTATATACGCCATATATAT ACCATATATATACGCCATATATATACCATATATATACGCCATATATATAC CATATATATACGCCATATATATACCATATATATACGCCATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	164	0.0061	192	c.350 others(211): Show c.350-40626_350-40625insGTATATACGCCATATCTATACCATGT ATATACGCCATATCTATACCATGTATATACGCCATATCTATACCATGTAT ATACGCCATATATATACCATATATATACGCCATATATATACCATATATAT ACGCCATATATATACCATATATATACGCCATATATATACCATATATATAC GCCATATATATACCAT		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
ICA1_chr7_8108184_8267167	8152835	C C	CCCACCAC others(185): Show CCCACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCAC CACCACTACCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCA CTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATC TCCTTCATCACCACTACCCCCACCACTATCACCATCACCTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	272	0.0037	192	c.804 others(209): Show c.804+4280_804+4281insAAGAGGTGATGGTGATAGTGGTGGGGGT AGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGG AGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTG GTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGAT GGTGGTAGTGGTGG		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13						chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33321391	G G	ATGGAACC others(185): Show ATGGAACCAATACATATATGGAACATATGTATGTGGAACCAATACATATA TGGAACATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGG AACCAATACATATATGGAACATATGTATGTGGAACCAATACATATATGGA ACATATGTATGTGGAACCAATACATATATGCAACATATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	277	0.0036	192	c.-36 others(203): Show c.-3666_-3665insATGGAACCAATACATATATGGAACATATGTATGT GGAACCAATACATATATGGAACATATGTATGTGGAACCAATACATATATG GAACATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGGAA CCAATACATATATGGAACATATGTATGTGGAACCAATACATATATGCAAC ATATGTAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					3579		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321391	G G	ATGGAACC others(185): Show ATGGAACCAATACATATATGGAACATATGTATGTGGAACCAATACATATA TGGAACATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGG AACCAATACATATATGGAACATATGTATGTGGAACCAATACATATATGGA ACATATGTATGTGGAACCAATACATATATGGAACATATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01175.hp2 others(5): Show HG00741.hp2 HG01099.hp1 HG01175.hp2 HG02055.hp2 HG02602.hp1 HG03239.hp2 HG03834.hp2 HG04115.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0021 a0003c0003t0009 others(1): Show a0001c0001t0005 a0001c0001t0021 a0003c0003t0009 a0003c0003t0032	a0001c0001t0005g0018 a0001c0001t0005g0110 a0001c0001t0005g0113 others(4): Show a0001c0001t0005g0018 a0001c0001t0005g0110 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0021g0142 a0003c0003t0009g0102 a0003c0003t0032g0115	8	284	0.0282	192	c.-36 others(203): Show c.-3666_-3665insATGGAACCAATACATATATGGAACATATGTATGT GGAACCAATACATATATGGAACATATGTATGTGGAACCAATACATATATG GAACATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGGAA CCAATACATATATGGAACATATGTATGTGGAACCAATACATATATGGAAC ATATGTAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					3579		chr21	TogoVar
IGF1_chr12_102390874_102485563	102441940	C C	CTTCTTCT others(185): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0340 a0001c0001t0019g0340	1	354	0.0028	192	c.221 others(211): Show c.221-22251_221-22250insAGAAGAAGAAGAAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAA		IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3						chr12	TogoVar
IGHMBP2_chr11_68898891_68945601	68929806	C C	CGGAGACA others(185): Show CGGAGACACCGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTG GAGACACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGA GACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGA CACTGGAGTCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0170 a0005c0005t0002g0170	1	372	0.0027	192	c.123 others(209): Show c.1235+588_1235+589insCTGGTGGAGACACTGGAGTCCTGATGCG GTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACCGGAGCCCTGATGCAGT GGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGTCCTGATGCGGTGG CCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCC TGGCCCAGGCTGTC		IGHMBP2	ENSG00000132740.10	transcript	ENST00000255078.8	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
IGHMBP2_chr11_68898891_68945601	68929815	C C	CGGAGCCC others(185): Show CGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTG GAGCCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGA GCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGC CCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp1 others(79): Show HG00099.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01978.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02155.hp1 HG02257.hp1 HG02300.hp1 HG02559.hp2 HG02698.hp2 HG02922.hp2 HG03017.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18940.hp1 NA18943.hp2 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19085.hp1	a0001 a0002 a0008 others(5): Show a0001 a0002 a0008 a0015 a0016 a0017 a0021 a0022	a0001c0001 a0002c0002 a0002c0026 others(6): Show a0001c0001 a0002c0002 a0002c0026 a0008c0009 a0015c0019 a0016c0032 a0017c0028 a0021c0025 a0022c0023	a0001c0001t0001 a0002c0002t0002 a0002c0002t0009 others(10): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0019 a0002c0002t0020 a0002c0026t0002 a0008c0009t0002 a0015c0019t0002 a0016c0032t0002 a0017c0028t0002 a0021c0025t0002 a0022c0023t0002	a0001c0001t0001g0095 a0001c0001t0001g0117 a0002c0002t0002g0219 others(78): Show a0001c0001t0001g0095 a0001c0001t0001g0117 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0258 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0009g0228 a0002c0002t0009g0252 a0002c0002t0010g0240 a0002c0002t0010g0294 a0002c0002t0019g0232 a0002c0002t0020g0230 a0002c0026t0002g0226 a0008c0009t0002g0023 a0008c0009t0002g0295 a0008c0009t0002g0302 a0015c0019t0002g0247 a0016c0032t0002g0239 a0017c0028t0002g0223 a0021c0025t0002g0257 a0022c0023t0002g0278	82	361	0.2271	192	c.123 others(209): Show c.1235+510_1235+511insCCCTGATGCGGTGGCCTGGCCCAGGCTG TCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTC CTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCT GGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGG TGGAGACACTGGAG		IGHMBP2	ENSG00000132740.10	transcript	ENST00000255078.8	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
IGHMBP2_chr11_68898891_68945601	68929815	C C	CGGAGCCC others(185): Show CGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTG GAGCCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGA GCCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGC CCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01433.hp1 NA20805.hp1 HG01255.hp2 HG01433.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0291 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0291 a0002c0002t0002g0307 a0002c0002t0002g0308	3	282	0.0106	192	c.123 others(209): Show c.1235+510_1235+511insCCCTGATGCGGTGGCCTGGCCCAGGCTG TCCTGGTGGAGACACTGGAGCCCTGATGCGGTGGCCTGGCCCAGGCTGTC CTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCT GGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGCTGTCCTGG TGGAGACACTGGAG		IGHMBP2	ENSG00000132740.10	transcript	ENST00000255078.8	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
IGHMBP2_chr11_68898891_68945601	68929868	T T	TCCTGATG others(185): Show TCCTGATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCC CTGATGCAGTGGCCTGGCCCAGGCTGTCTTGGTGGAGACACTGGAGCCCT GATGCGGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGA TGCAGTGGCCTGGCCCAGGCTGTCCTGGTGGAGACACTGGAGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	275	0.0036	192	c.123 others(209): Show c.1235+598_1235+599insCACTGGAGCCCTGATGCGGTGGCCTGGC CCAGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCC AGGCTGTCCTGGTGGAGACACTGGAGCCCTGATGCGGTGGCCTGGCCCAG GCTGTCCTGGTGGAGACACTGGAGCCCTGATGCAGTGGCCTGGCCCAGGC TGTCTTGGTGGAGA		IGHMBP2	ENSG00000132740.10	transcript	ENST00000255078.8	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
IGSF21_chr1_18102798_18383483	18330520	A A	AGAGAAGG others(185): Show AGAGAAGGGAAGGTGGGAGACATGGCTGGAGGAAGGGGCAGGGGCGTGGG AGAAGGGAAGGTGGGAGACATGGCTGGAGGAAGGGGCAGGGGCGTGGGAG AAGGGAAGGTGGGAGACATGGCTGGAGGAAGGGGCAGGGGCGTGGGAGAA GGGAAGGTGGGAGACATGGCTGGAGGAAGGGGCAGGGGCGTGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	162	0.0062	192	c.306 others(209): Show c.306-4234_306-4233insGCGTGGGAGAAGGGAAGGTGGGAGACAT GGCTGGAGGAAGGGGCAGGGGCGTGGGAGAAGGGAAGGTGGGAGACATGG CTGGAGGAAGGGGCAGGGGCGTGGGAGAAGGGAAGGTGGGAGACATGGCT GGAGGAAGGGGCAGGGGCGTGGGAGAAGGGAAGGTGGGAGACATGGCTGG AGGAAGGGGCAGGG		IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
IHO1_chr3_49194498_49263106	49200475	A A	AAAAAAAA others(185): Show AAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	45	0.0222	192	c.-16 others(207): Show c.-16+905_-16+906insAAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA		IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568116	T T	TATTTAAA others(185): Show TATTTAAAGATCAAAAATAACAGATTATTCTTGATTTAAAGATCAAGAGT AACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATT TAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACA GATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00673.hp1 others(25): Show HG00140.hp1 HG00642.hp1 HG00673.hp1 HG01074.hp1 HG01167.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01928.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02486.hp1 HG02622.hp2 HG02738.hp1 HG02922.hp1 HG03098.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG04199.hp1 HG04228.hp1 NA18948.hp1 NA18959.hp1 NA19000.hp1 NA19082.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0002c0003t0001	a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0079 others(25): Show a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0002g0012 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0003g0025 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0004g0125 a0001c0001t0004g0129 a0001c0001t0005g0009 a0001c0001t0005g0057 a0001c0001t0005g0075 a0001c0001t0005g0097 a0001c0001t0006g0108 a0001c0001t0007g0039 a0001c0001t0008g0061 a0001c0001t0009g0090 a0001c0001t0009g0131 a0001c0001t0010g0017 a0001c0001t0011g0036 a0001c0001t0012g0095 a0002c0003t0001g0089	28	41	0.6829	192	c.704 others(213): Show c.704-100301_704-100300insAAATAACAGATTATTCTTGATTTA AAGATCAAGAGTAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGA TTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGA TCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTAT TCTTGATTTAAAGATCAA		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IPCEF1_chr6_154149496_154361803	154354415	A A	ACCTCCAC others(185): Show ACCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTC CTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCT CCACAACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCC ACCACCACCTCCACCATCTCCTCCACAACCACCTCCACCATCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0024 a0001c0002t0016g0024	1	147	0.0068	192	c.-62 others(209): Show c.-62+2256_-62+2257insAGATGGTGGAGGTGGTTGTGGAGGAGAT GGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGG TGGAGGTGGTTGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTG GAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGA GGTGGTGGTGGAGG		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11						chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154354423	C C	CACCACCT others(185): Show CACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCA CCACCTCCACCATCACCTCCACCACCACCTCCACCATCTCCTCCACCACC ACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACCAC CTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	249	0.0040	192	c.-62 others(209): Show c.-62+2248_-62+2249insTGTGGAGGAGATGGTGGAGGTGGTGGTG GAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGA GGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGG TGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAG ATGGTGGAGGTGGT		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11						chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154354447	C C	CACCACCT others(185): Show CACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACAA CCACCTCCACCATCTCCTCCACAACCACCTCCACCATCTCCTCCACCACC ACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACAACCAC CTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0141 a0001c0001t0007g0141	1	200	0.0050	192	c.-62 others(209): Show c.-62+2224_-62+2225insTGTGGAGGAGATGGTGGAGGTGGTGGTG GAGGAGATGGTGGAGGTGGTTGTGGAGGAGATGGTGGAGGTGGTGGTGGA GGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTTGTGGAGG AGATGGTGGAGGTGGTTGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAG ATGGTGGAGGTGGT		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11						chr6	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(185): Show TAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp1 HG02257.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0143 a0002c0003t0001g0165 a0002c0003t0001g0143 a0002c0003t0001g0165	2	234	0.0085	192	c.127 others(211): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCT TTTCTTTTCTTTTCTT		IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14						chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224732	C C	CCATCCAC others(185): Show CCATCCACCCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCC ACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCAC CCACCCACCCATCCATCCACCCACCCACCTGTCCACCCATGTACCCACCC TCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01123.hp1 others(21): Show HG00438.hp2 HG00558.hp1 HG01123.hp1 HG01261.hp2 HG02040.hp2 HG02135.hp2 HG02683.hp1 HG03239.hp2 NA18747.hp2 NA18942.hp2 NA18960.hp2 NA18961.hp1 NA18971.hp1 NA18980.hp2 NA18989.hp1 NA18998.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp2 NA19079.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0021 a0001c0003t0001g0022 others(21): Show a0001c0003t0001g0012 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0038 a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0090 a0001c0003t0001g0097 a0001c0003t0001g0109 a0001c0003t0001g0143 a0001c0003t0001g0201 a0001c0003t0001g0227 a0001c0003t0001g0234 a0001c0003t0001g0245 a0001c0003t0001g0252 a0001c0003t0001g0270	24	269	0.0892	192	c.121 others(211): Show c.1210-1633_1210-1632insCCCACCCACCCACCCACCCACCCACC CATCCATCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCCA CCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTC CACCCATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCA CCTACCCACACATCCA		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224735	T T	TCCATCCA others(185): Show TCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATC CACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCA CCCATCCATCCACCTACCCACCTGTCCACCCATGTACCCACCCTCCCACC AACCCACCCACCCATCCATTTATCCACCTACCCACACATCCAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp1 NA19043.hp1 HG01069.hp1 HG02055.hp1 NA19043.hp1	a0004 a0011 a0004 a0011	a0004c0005 a0011c0022 a0004c0005 a0011c0022	a0004c0005t0003 a0011c0022t0003 a0004c0005t0003 a0011c0022t0003	a0004c0005t0003g0071 a0004c0005t0003g0264 a0011c0022t0003g0126 a0004c0005t0003g0071 a0004c0005t0003g0264 a0011c0022t0003g0126	3	182	0.0165	192	c.121 others(211): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCCACCCATCCACCCATCCATCCACCCACCCACCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCTACCCACCTGTCCACCCATG TACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCA CACATCCACCCATCCA		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(185): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCAC TCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTC AAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	179	0.0056	192	c.130 others(211): Show c.1303-2572_1303-2571insAACCTGGAGCTCAGGGGGGTGACCTG TGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTG TGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTG TGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTGTG CAGAAGAGCTTGAGTG		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20						chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067662	A A	ACCCCCTG others(185): Show ACCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAGGTCACC CCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACGCAGGTCACCCC CCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCC TGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAGGTCAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	221	0.0045	192	c.130 others(211): Show c.1303-2655_1303-2654insGTGACCTGTGTGTGCAGAAGAGCTTG AGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAG TGAACGTGGAGCTCAGGGGGGTGACCTGCGTGTGCAGAAGAGCTTGAGTG AACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAA CCTGGAGCTCAGGGGG		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20						chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067677	G G	GGTTCACT others(185): Show GGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACG TTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTT CACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGTTCA CTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	158	0.0063	192	c.130 others(211): Show c.1303-2670_1303-2669insGTGGAGCTCAGGGGGGTGACCTGCGT GTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGT GCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGCGTGTGC AGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCAG AAGAGCTTGAGTGAAC		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20						chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067702	A A	ACAGGTCA others(185): Show ACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACGC AGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCCGCACACACAG GTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACACAGGT CACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02895.hp2 HG02976.hp1 others(1): Show HG02280.hp2 HG02895.hp2 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0153 a0001c0001t0001g0202 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0153 a0001c0001t0001g0202 a0001c0001t0001g0219	4	227	0.0176	192	c.130 others(211): Show c.1303-2695_1303-2694insCGTGTGCAGAAGAGCTTGAGTGAACG TGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACGTG GAGCTCAGGGGGGTGACCTGTGTGTGCGGAAGAGCTTGAGTGAACGTGGA GCTCAGGGGGGTGACCTGCGTGTGCAGAAGAGCTTGAGTGAACGTGGAGC TCAGGGGGGTGACCTG		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20						chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067750	G G	GCAGGTCA others(185): Show GCAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCCGCACACAC AGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACGCAG GTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACACAGGT CACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG02109.hp2 others(9): Show HG00639.hp2 HG01167.hp1 HG02109.hp2 HG02559.hp1 HG02809.hp2 HG03139.hp1 HG03209.hp2 HG03490.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0090 others(9): Show a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0090 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0217 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0003t0001g0005	12	222	0.0541	192	c.130 others(211): Show c.1303-2743_1303-2742insTGTGTGCAGAAGAGCTTGAGTGAACG TGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACGTG GAGCTCAGGGGGGTGACCTGCGTGTGCAGAAGAGCTTGAGTGAACGTGGA GCTCAGGGGGGTGACCTGTGTGTGCGGAAGAGCTTGAGTGAACGTGGAGC TCAGGGGGGTGACCTG		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20						chr4	TogoVar
KCNK10_chr14_88175108_88328269	88310205	G G	GATATACC others(185): Show GATATACCATATCATATGGTATATCATATACCATATCATATGGTATATGA TATACCATATCATATGGTATATCATATACCATATCATATGGTATATGATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATGATATA CCATATCATATGGTATATGATATACCATATGATATGGTATATC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0137 a0001c0005t0002g0137	1	117	0.0085	192	c.52+ others(209): Show c.52+12541_52+12542insGATATACCATATCATATGGTATATCATA TACCATATGATATGGTATATCATATACCATATGATATGGTATATGATATA CCATATGATATGGTATATCATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATCATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATAT		KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6						chr14	TogoVar
KCNK2_chr1_215077737_215242090	215209700	T T	TATTATAT others(185): Show TATTATATAATATATAATATATATTATATATTATATAATATATATTATAT ATTATATATTATATATTATATATTATATATTATATATTATATAATATATA TTATATATATATAATATATATTATATATTATATAATATATATTATATATA TATAATATATATTATATATATTAAATATATATAATATATATTA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	255	0.0039	192	c.963 others(211): Show c.963+14609_963+14610insTTATATAATATATAATATATATTATA TATTATATAATATATATTATATATTATATATTATATATTATATATTATAT ATTATATATTATATAATATATATTATATATATATAATATATATTATATAT TATATAATATATATTATATATATATAATATATATTATATATATTAAATAT ATATAATATATATTAA		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178758782	T T	TATATCCA others(185): Show TATATCCAAGGGGATATATATATATATATATCCAAGGGGTTTTATATATA TATATATCCAAGGGGATATATATATATATATATATATCCAAGGGGATATA TATATATATATATATATCCAAGGGGATATATATATATATATATATATATA TCCAAGGGGATATATATATATATATATATATATCTCCAAGGGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03540.hp1 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0006 a0001c0001t0003 a0001c0002t0006	a0001c0001t0003g0088 a0001c0002t0006g0086 a0001c0001t0003g0088 a0001c0002t0006g0086	2	193	0.0104	192	c.-67 others(211): Show c.-67-48557_-67-48556insCCAAGGGGATATATATATATATATAT CCAAGGGGTTTTATATATATATATATCCAAGGGGATATATATATATATAT ATATATCCAAGGGGATATATATATATATATATATATCCAAGGGGATATAT ATATATATATATATATATATCCAAGGGGATATATATATATATATATATAT ATCTCCAAGGGGATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63442752	T T	TCACCATC others(185): Show TCACCATCACCACCATCACCATCACCACCATCACCATTACCACCACCATT ACCACCACCATCACCATCACCATCACCACCACCACCACCACCACCATCAC CATCACCACCACCATCACCATTATCACCACCACCATCACCACCATCACCA CCACCACCATCACCATCACCACCACCATCACCATTATCACCAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0054 a0001c0002t0020g0054	1	314	0.0032	192	c.691 others(207): Show c.691-222_691-221insGTGGTGATAATGGTGATGGTGGTGGTGATG GTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGG TGATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442767	T T	TCACCATT others(185): Show TCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCAT CACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCA CCACCATCACCACCACCACCACCATCACCACCATCACCATCAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18973.hp1 HG03041.hp1 NA18973.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0062 a0002c0001t0002 a0001c0002t0062 a0002c0001t0002	a0001c0002t0062g0048 a0002c0001t0002g0018 a0001c0002t0062g0048 a0002c0001t0002g0018	2	321	0.0062	192	c.691 others(207): Show c.691-237_691-236insGTGATGGTGATGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTG GTGGTAATGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45229126	C C	CCAACCAC others(185): Show CCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCAC CACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCC GAGAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCA CCCCCCCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0347 a0001c0001t0040g0347	1	326	0.0031	192	c.64+ others(209): Show c.64+11513_64+11514insCGGGGTGGAGAGGGATCTCTCGGGTGAG TGTTTGGTGGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGT GGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGA TCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGA GTGTTTGGTGGTTG		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(185): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02451.hp1 NA19007.hp2 HG01361.hp2 HG02451.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0056 a0001c0001t0002 a0002c0004t0056	a0001c0001t0002g0071 a0001c0001t0002g0077 a0002c0004t0056g0030 a0001c0001t0002g0071 a0001c0001t0002g0077 a0002c0004t0056g0030	3	226	0.0133	192	c.-25 others(211): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCT		KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF25_chr6_167992671_168050091	167997234	G G	GGGGTCGG others(185): Show GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	362	0.0028	192	c.-22 others(203): Show c.-2235_-2234insGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCT GCAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					436		chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(185): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCG GGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp2 HG02451.hp1 HG02895.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0016 a0009c0013t0018 a0009c0013t0016 a0009c0013t0018	a0009c0013t0016g0168 a0009c0013t0018g0273 a0009c0013t0016g0168 a0009c0013t0018g0273	2	61	0.0328	192	c.317 others(209): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGC GCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGC GGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGG		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr6	TogoVar

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