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
PEX10_chr1_2398974_2417564	2401351	T T	TCCTCCCT others(348): Show TCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCCC TCCTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCC TTCTTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTGCTTCCTCCT CCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTC CCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTC CTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCC TTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 NA20752.hp2 HG01891.hp1 HG02109.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0019 a0001c0002t0003g0045 a0001c0002t0003g0056 a0001c0002t0003g0019 a0001c0002t0003g0045 a0001c0002t0003g0056	3	358	0.0084	355	c.44 others(366): Show c.4414_*4415insGAGGAAGGAGGGAGGAGGAGGGAGGAAGGAGGGA GGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGGAGGAAGGAG GGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGAGGA GGGAGGAGGGGGAGGAGGGAGGAGGAGGAAGCAGGGAGGAGGAGGGAGGA AGAAGGGAGGAGGGAGGAAGAAGGGAGGAGGGAGGAAGAAGGGAGGAGGG AGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGG GAGGAGGAAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGG AAGAAGGGAGGAGGAGGGAGG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2622		chr1	TogoVar
PHACTR3_chr20_59599540_59852711	59821975	G G	GCAGCAAT others(348): Show GCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCC CACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCC CCAGCGATCCCACCCCTTCCCCAGCGATCCGCCCCCCAACGATCCCACCC CTTCTCCAGCGATCCCACCCCCTCCGCAGCGATCCCACCCCCTCCGCAGC GATCCCACCCCTTCCGCAGCGATCCCACCCCCTCCGCAGCCATCCCACCC CCTCCGCAGCCATCCCACCCCCTCCCCAGCAATCCCACCCCTTCCCCAGC AATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	250	0.0040	355	c.132 others(376): Show c.1329-14526_1329-14525insAATCCCACCCCTTCCCCAGCAATC CCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATC CGCCCCCCAACGATCCCACCCCTTCTCCAGCGATCCCACCCCCTCCGCAG CGATCCCACCCCCTCCGCAGCGATCCCACCCCTTCCGCAGCGATCCCACC CCCTCCGCAGCCATCCCACCCCCTCCGCAGCCATCCCACCCCCTCCCCAG CAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCGATCCCACC CCTTCCCCAGCAATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PIAS4_chr19_4002736_4044386	4011658	T T	TGGTGTGG others(348): Show TGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGT TTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGT TTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02486.hp2 others(11): Show HG02145.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0004 a0001c0004t0011 others(1): Show a0001c0004t0003 a0001c0004t0004 a0001c0004t0011 a0001c0004t0012	a0001c0004t0003g0005 a0001c0004t0003g0250 a0001c0004t0003g0251 others(8): Show a0001c0004t0003g0005 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0003g0252 a0001c0004t0003g0253 a0001c0004t0003g0254 a0001c0004t0003g0255 a0001c0004t0004g0248 a0001c0004t0004g0249 a0001c0004t0011g0004 a0001c0004t0012g0004	14	334	0.0419	355	c.28- others(370): Show c.28-1251_28-1250insTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(348): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAA AGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	312	0.0032	355	c.53 others(366): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GGGGGAAGAGGGGAAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIP4K2A_chr10_22529854_22719578	22578645	T T	TTTGTTTA others(348): Show TTTGTTTACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTGCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0017 a0001c0008t0017	a0001c0008t0017g0188 a0001c0008t0017g0188	1	206	0.0049	355	c.493 others(372): Show c.493-5189_493-5188insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGCAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAATGTAAACAA	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	4/9			chr10	TogoVar
PKD1L1_chr7_47769614_47953466	47793047	T T	TAAAAAAA others(348): Show TAAAAAAAAAACTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA AAACAA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0081 a0081	a0081c0151 a0081c0151	a0081c0151t0001 a0081c0151t0001	a0081c0151t0001g0243 a0081c0151t0001g0243	1	306	0.0033	355	c.835 others(372): Show c.8356-251_8356-250insTTGTTTTGTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAATAGTTTTTTTTTT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	55/56			chr7	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(348): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0101 a0001c0003t0001g0102	2	216	0.0093	355	c.173 others(372): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCGCTCACACCCGGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLXNC1_chr12_94143577_94312675	94215814	T T	TAAGAAAT others(348): Show TAAGAAATTGATATGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	298	0.0034	355	c.155 others(374): Show c.1555-4187_1555-4186insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAAATTGATATGT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	5/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
POLN_chr4_2066918_2247121	2226615	T T	TAACAGTC others(348): Show TAACAGTCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0012 a0001c0003t0003g0012	1	194	0.0052	355	c.133 others(372): Show c.133+2483_133+2484insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGATTGGACTGTT	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	3/25			chr4	TogoVar
PPP2R5C_chr14_101756709_101932977	101782545	C C	CTTCCCCT others(348): Show CTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCC CTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCT TCCCCTCCCTCTCTCCCCCTTCCCTTCCCTCTCTCCCCCTTCCCCTCCCT CTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCT TCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCT CTCCCCCTTCCCTTCCCTCTCTCCCCCTTCCCTTCCCCTCCCTCTCCCCC TTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCCCTCTCTC TCCCCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	138	0.0073	355	c.94- others(370): Show c.94-3473_94-3472insTTCCCCTCCCTCTCTCCCCCTTCCCCTCCC TCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCC TTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCTTCCCTC TCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTT CCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTC TCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCTTCCCTCTCTCCCCCTTCC CTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCT TTCTCCCCTTCCCTCTCTCTCCCCT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15			chr14	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(348): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCGCGGACGGGGCAGC TGGCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(72): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00544.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02083.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03239.hp2 HG03486.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18992.hp1 NA18993.hp2 NA19000.hp1 NA19001.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19064.hp1 NA19074.hp1 NA19079.hp2 NA19082.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 others(72): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0322 a0001c0001t0001g0337 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0389 a0001c0001t0002g0122 a0001c0001t0010g0222 a0001c0002t0002g0061	75	392	0.1913	355	c.529 others(372): Show c.529-1127_529-1126insGGGGGGCTGACCCCCCCACCTCCCTCGC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGCTGACCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18888563	A A	AGGCAGAG others(348): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCTGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCGCGGACGGGGCAGC TGGCCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	392	0.0026	355	c.529 others(372): Show c.529-1127_529-1126insGGGGGGCTGACCCCCCCACCTCCCTCGC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC TGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGCTGACCCCCCACCTCCCTCGCGGACGGGGCAGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRTFDC1_chr10_24843614_24957606	24921203	A A	AAGAAATT others(348): Show AAGAAATTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	338	0.0030	355	c.339 others(374): Show c.339+15980_339+15981insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGATAATTTCT	PRTFDC1	ENSG00000099256.19	transcript	ENST00000320152.11	protein_coding	3/8			chr10	TogoVar
PTPN9_chr15_75458251_75584315	75481624	C C	CCCACCCG others(348): Show CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCC CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCT CCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CAGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCC GGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	326	0.0031	355	c.106 others(374): Show c.1063-1711_1063-1710insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGCTGACCCCCCTACCTC CCTCCCGGACGGGGCGGCTGGCCGGGTGG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75481624	C C	CCCACCCG others(348): Show CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCT CCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCAGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	326	0.0031	355	c.106 others(374): Show c.1063-1711_1063-1710insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGGCGGCTGGCCG GGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTC CCTCCCGGACGGGGCGGCTGGCCGGGTGG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
RAB11FIP4_chr17_31386675_31543211	31515456	A A	ATATTGCC others(348): Show ATATTGCCATCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0138 a0001c0003t0006g0138	1	310	0.0032	355	c.337 others(372): Show c.337-2178_337-2177insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTATTGCCATCTATTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(348): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGG GGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGA GGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGAGG GGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	318	0.0031	355	c.36 others(366): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGG GGAGGGGGGAGGAGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(348): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGG GGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGG GGGGAGAGGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGAGGAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGG GGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	318	0.0031	355	c.36 others(366): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGAGGGGGGAGAGGGGGGGAGGGGGAGAGGGGAGGAGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGAG GAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGG GGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGGAA others(348): Show AGGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGGAGGGGGAGGGGGG GAGGAGGGAGGAGGAGGGGAGGGAGGAGGGGGGGAGGAGGGGGAGGGGGG AGGAGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGGGGGGAGGAGGGGAGG GGAGGGGGAGAGGGGGAGGGGGAGGGAGGGGGAGGGGAGGGGGAGGAGGA AGGAGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGG AGGGGGAGGAGGGAAGGGGGAGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGG GAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	318	0.0031	355	c.36 others(366): Show c.3638_*3639insGGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGG GGAGGGGGAGGGGGGGAGGAGGGAGGAGGAGGGGAGGGAGGAGGGGGGGA GGAGGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGG GGGGAGGAGGGGAGGGGAGGGGGAGAGGGGGAGGGGGAGGGAGGGGGAGG GGAGGGGGAGGAGGAAGGAGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGGAGGGGGAGGAGGGAAGGGGGAGGGGAGGGGGGAGG AGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RER1_chr1_2386841_2410436	2401351	T T	TCCTCCCT others(348): Show TCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCCC TCCTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCC TTCTTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTGCTTCCTCCT CCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTC CCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTC CTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCC TTCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 NA20752.hp1 HG01891.hp2 HG02109.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	3	354	0.0085	355	c.365 others(370): Show c.365+433_365+434insTCTTCCTCCCTCCTCCCTCCCTCCTCCCTC CCTCCTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCC TCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTC CCTTCTTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTGCTTCCTC CTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCC TCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCC TCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCT CCTTCCTCCCTCCCTCCTCCTCCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(348): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	276	0.0036	355	c.132 others(372): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(348): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAAGATATATTAATATATATTTAAATATATATTAATATATA TTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTAATATA TATTTAAATTATATAATTTAAATATACATATTTAAAGATATATATATTTA AATATATATATTTTTAATATATATATTTTTAAATATATATATATTTATAT ATATATTTTTATATATATATATTTATATATATATTTTTAAATATATATAT ATATTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	408	0.0025	355	c.182 others(372): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAAGATATATTAATATATATTTAAATATATATTAA TATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATT AATATATATTTAAATTATATAATTTAAATATACATATTTAAAGATATATA TATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATAT TTATATATATATTTTTATATATATATATTTATATATATATTTTTAAATAT ATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(348): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATTAATATATATTTAAATATATATTAATATATA TTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTAATATA TATTTAAATTATATAATTTAAATATACATATTTAAAGATATATATATTTA AATATATATATTTTTAATATATATATTTTTAAATATATATATATTTATAT ATATATTTTTATATATATATATTTATATATATATTTTTAAATATATATAT ATATTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01993.hp2 others(17): Show HG00408.hp2 HG00639.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 NA18522.hp1 NA18906.hp2 NA18950.hp1 NA18960.hp2 NA18961.hp1 NA18971.hp2 NA19009.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0141 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0006g0003	20	408	0.0490	355	c.182 others(372): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATTAATATATATTTAAATATATATTAA TATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATT AATATATATTTAAATTATATAATTTAAATATACATATTTAAAGATATATA TATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATAT TTATATATATATTTTTATATATATATATTTATATATATATTTTTAAATAT ATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF17_chr13_24759169_24884921	24882133	G G	GATATATA others(348): Show GATATATAGATACATCATCTATATAGATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAA TCTATATAGATACATCTATATAGATATATAATCTATATAGATACATCTAT ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATACATCTATATAGATATATAGATACATCT ATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAT AGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0311 a0006c0009t0002g0311	1	426	0.0024	355	c.24 others(366): Show c.2407_*2408insATATATAGATACATCATCTATATAGATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTAGATATATAGA TACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATC TATATAGATATATAATCTATATAGATACATCTATATAGATATATAATCTA TATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGA TACATCTATATAGATATATAGATACATCTATATAGATACATCTATATAGA TATATAGATACATCTATATAGATATATAGATACATCTATATAGATATATA GATACATCTATATATAGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RPA3_chr7_7631518_7723607	7678988	A A	AATATATA others(348): Show AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTT ATAGAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp2 NA18906.hp2 HG02257.hp1 HG02965.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0169 a0001c0001t0007g0187 a0001c0001t0007g0010 a0001c0001t0007g0169 a0001c0001t0007g0187	3	308	0.0097	355	c.-75 others(374): Show c.-758+6841_-758+6842insATCTATAAATTAAATATATAAATATA TTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATA TATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATAAATATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	356241	C C	CCACACAC others(348): Show CCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACA CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	1	133	0.0075	355	c.-37 others(366): Show c.-3743_-3742insTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGT GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3435		chr17	TogoVar
SAMD11_chr1_918923_949574	934148	A A	AGGGGCGG others(348): Show AGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTA CAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0004 a0008c0014t0004	a0008c0014t0004g0257 a0008c0014t0004g0257	1	434	0.0023	355	c.843 others(372): Show c.843-1620_843-1619insCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934693	C C	CCGTTACA others(348): Show CCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTCCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGG CGGCTG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0028 a0028	a0028c0048 a0028c0048	a0028c0048t0004 a0028c0048t0004	a0028c0048t0004g0244 a0028c0048t0004g0244	1	434	0.0023	355	c.843 others(372): Show c.843-1060_843-1059insGGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTCCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTCCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGG GGCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCG3_chr15_51676503_51726026	51689151	T T	TCCACATT others(348): Show TCCACATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	402	0.0025	355	c.541 others(368): Show c.541-54_541-53insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCACATTATTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCN7A_chr2_166398573_166499249	166490600	T T	TAAAAAAG others(348): Show TAAAAAAGGAGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	394	0.0025	355	c.-12 others(374): Show c.-128+3367_-128+3368insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCGCCTCCTTTTTT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	1/25			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(348): Show GGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGG TTGGGTGAGGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGG TTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTGTT GGGTGA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0101 a0002c0003t0002g0101	1	290	0.0035	355	c.464 others(368): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTG TTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTG GGGTGTTGGGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280764	A A	AGCTACCC others(348): Show AGCTACCCTGTCACCTCCCTCAGCCATCCTGTCACCTCCCTCTTTGGCCA CTCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCC TTCTGTCTTCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCC TGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCCTCTTTGGCCACCCTC CTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTG TCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCA CCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCA CCTCCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0030 a0001c0054t0030	a0001c0054t0030g0017 a0001c0054t0030g0017	1	280	0.0036	355	c.484 others(374): Show c.484+10281_484+10282insGGGAGGTGACAGGGTGACTGAGGAGG AGGTGACAGGAGGGTGGCCAAAGAGGGAGGTGACAGGAGGATGGCTGAGG GAGGTGACAGGATAGCTGAGGAGGAGATGACAGAAGGGTGGCCAAGGGAG GTGACAGGGTGACTGAGGAGGAGGTGACAGGAGGGTGGCCAAAGAGGGAG GTGACAGGAGGGTGGCCAAGGGAGGTGACAGGAGGATGGCTGAGGGAGGT GACAGGATAGCTGAGGAGGAGAAGACAGAAGGGTGGCCAAGGGAGGTGAC AGGGTGACTGAGGAGGAGGTGACAGGAGAGTGGCCAAAGAGGGAGGTGAC AGGATGGCTGAGGGAGGTGACAGGGTAGC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(348): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCCTAT ATATATATTCCATATATATATATTCCCTATATATATATTCCATATATATA TATTCCCTATATATATATTCCCTATATATATATTCCATATATATATATTC CATATATATATTCCATATATATATATTCCATATATATATATTTCATATAT ATATATTCCATATATATATTCCATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATATAT ATATATTCCATATATATATATATATATATATTCCATATATATATATATAT ATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	324	0.0031	355	c.115 others(372): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATATATATATATGGAATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATATGAAATATATATATATG GAATATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATAGGGAATATATATATAGGGAATATATATATATGGAATATATATAT AGGGAATATATATATATGGAATATATATATAGGGAATATATATATATGGA ATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(348): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0132 a0001c0001t0001g0135	2	242	0.0083	355	c.43 others(366): Show c.4343_*4344insGCCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCG GGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGG TGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAG CGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCG GGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGC CGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGT GTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SLC16A9_chr10_59645764_59714850	59706205	T T	TTGTAAAT others(348): Show TTGTAAATCTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTAAGCAGAGTCTGGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCC TGGTTCATGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	352	0.0028	355	c.-37 others(372): Show c.-37+3273_-37+3274insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAAGAGAATGGCATGAACCAGGGAGGCAGAGCTTGCAGTGAG CCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCTGC TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAAAAATAGATTTACA	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(348): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGAGGGAGGGGA AGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGC AGGAGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp1 HG02257.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0053 a0001c0001t0005g0139 a0001c0001t0004g0053 a0001c0001t0005g0139	2	222	0.0090	355	c.914 others(374): Show c.914-32089_914-32088insCCTCCTGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCC CTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCC CCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCT CCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCC CGCCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCC CCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(348): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGAAGGGGGGAGGCGGGGGGGC GGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGG GAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGA AGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGC GGGAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0141 a0001c0001t0010g0141	1	222	0.0045	355	c.914 others(374): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCC TCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCC CCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTT CCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCCTCC CGCCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCC CCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(348): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGG CGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	410	0.0024	355	c.-26 others(374): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT ATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(348): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGG CGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	410	0.0024	355	c.-26 others(374): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(348): Show CTATCCTTGCTTTTATTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGG CGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0375 a0001c0001t0005g0375	1	410	0.0024	355	c.-26 others(374): Show c.-263-2255_-263-2254insTTATTTATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTGTATAT others(348): Show GTGTATATATATACACATAGTATATATATTCTACGTATATATATACACAT AGTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGT ATATATATACACACGTAGTATATATATTCTATGTGTATATATATACACAT AGTATATATATTCTACGTGTGTATATATATACACATAGTATATATATTCT ACGTGTATGTATACACATATATACATAGAATATATATACTATGTGTATAT ATATACACGTAGAATATATATACTATGTGTATATATACGTAGAATATATA TACTATGTGTATATATACGTAGAATATATATACTATGTGTATATATATAC GTAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00733.hp1 HG00735.hp1 others(15): Show HG00609.hp2 HG00733.hp1 HG00735.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG02886.hp1 HG03453.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp1 NA18945.hp1 NA18972.hp2 NA19005.hp1 NA19070.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0026 a0001c0001t0034 a0001c0001t0049 a0001c0001t0061	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0003g0069 others(15): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0003g0069 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0164 a0001c0001t0009g0057 a0001c0001t0009g0058 a0001c0001t0009g0091 a0001c0001t0011g0086 a0001c0001t0012g0038 a0001c0001t0019g0147 a0001c0001t0026g0099 a0001c0001t0034g0136 a0001c0001t0049g0062 a0001c0001t0061g0067	18	182	0.0989	355	c.174 others(374): Show c.174-83380_174-83379insGTATATATATACACATAGTATATATA TTCTACGTATATATATACACATAGTATATATATTCTACGTATATATATAC ACATAGTATATATATTCTACGTATATATATACACACGTAGTATATATATT CTATGTGTATATATATACACATAGTATATATATTCTACGTGTGTATATAT ATACACATAGTATATATATTCTACGTGTATGTATACACATATATACATAG AATATATATACTATGTGTATATATATACACGTAGAATATATATACTATGT GTATATATACGTAGAATATATATACTATGTGTATATATACGTAGAATATA TATACTATGTGTATATATATACGTAGAAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTGTATAT others(348): Show GTGTATATATATACACATAGTATATATATTCTACGTATATATATACACAT AGTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGT ATATATATACACACGTAGTATATATATTCTATGTGTATATATATACACAT AGTATATATATTCTATGTGTGTATATATATACACATAGTATATATATTCT ACGTGTATGTATACACATATATACATAGAATATATATACTATGTGTATAT ATATACACGTAGAATATATATACTATGTGTATATATACGTAGAATATATA TACTATGTGTATATATACGTAGAATATATATACTATGTGTATATATATAC GTAGAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0063 a0001c0001t0003g0064	2	182	0.0110	355	c.174 others(374): Show c.174-83380_174-83379insGTATATATATACACATAGTATATATA TTCTACGTATATATATACACATAGTATATATATTCTACGTATATATATAC ACATAGTATATATATTCTACGTATATATATACACACGTAGTATATATATT CTATGTGTATATATATACACATAGTATATATATTCTATGTGTGTATATAT ATACACATAGTATATATATTCTACGTGTATGTATACACATATATACATAG AATATATATACTATGTGTATATATATACACGTAGAATATATATACTATGT GTATATATACGTAGAATATATATACTATGTGTATATATACGTAGAATATA TATACTATGTGTATATATATACGTAGAAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTGTATAT others(348): Show GTGTATATATATACACATAGTATATATATTCTACGTGTATATATACACAT AGTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGT ATATATATACACACGTAGTATATATATTCTATGTGTATATATATACACAT AGTATATATATTCTACGTGTGTATATATATACACATAGTATATATATTCT ACGTGTATGTATACACATATATACATAGAATATATATACTATGTGTATAT ATATACACGTAGAATATATATACTATGTGTATATATACGTAGAATATATA TACTATGTGTATATATACGTAGAATATATATACTATGTGTATATATATAC GTAGAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0080 a0001c0001t0057g0080	1	182	0.0055	355	c.174 others(374): Show c.174-83380_174-83379insGTATATATATACACATAGTATATATA TTCTACGTGTATATATACACATAGTATATATATTCTACGTATATATATAC ACATAGTATATATATTCTACGTATATATATACACACGTAGTATATATATT CTATGTGTATATATATACACATAGTATATATATTCTACGTGTGTATATAT ATACACATAGTATATATATTCTACGTGTATGTATACACATATATACATAG AATATATATACTATGTGTATATATATACACGTAGAATATATATACTATGT GTATATATACGTAGAATATATATACTATGTGTATATATACGTAGAATATA TATACTATGTGTATATATATACGTAGAAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC44A1_chr9_105239651_105402346	105318764	A A	AATGTTTT others(348): Show AATGTTTTGCCAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0127 a0002c0002t0020g0127	1	142	0.0070	355	c.269 others(372): Show c.269+8914_269+8915insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCATGTTTTGCCAATTCT	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC4A4_chr4_71182259_71577083	71333881	T T	TGCCAGGC others(348): Show TGCCAGGCCTGGGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	152	0.0066	355	c.254 others(372): Show c.254-5472_254-5471insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCAGGCCTGGGTTTCT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC9A3_chr5_465456_529449	502907	C C	CGCCGTAA others(348): Show CGCCGTAACGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTC ACTACCAGTGAGGCCGAAAGCCGCCGTAACGACACAGATGGGCGCTGTGT TCCAGTGAAACTTTACCACTCACTACCACTGAGGCCGAAAGCCGCCGTAA CGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTACCAG TGAGGCCGAAAGCCGCCGTAACGACACAGATGGGCGCTGTGTTCCAGTGA AACTTTACCACTCACTACCAGTGAGGCCGAAAGCCGCCGTAACGACACAG ATGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTACCACTGAGGCCG AAAGCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0007 a0006c0015t0007	a0006c0015t0007g0004 a0006c0015t0007g0004	1	218	0.0046	355	c.212 others(374): Show c.212-10837_212-10836insAGCTTTCGGCCTCAGTGGTAGTGAGT GGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCGTTACGGCGGCTT TCGGCCTCACTGGTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCA TCTGTGTCGTTACGGCGGCTTTCGGCCTCACTGGTAGTGAGTGGTAAAGT TTCACTGGAACACAGCGCCCATCTGTGTCGTTACGGCGGCTTTCGGCCTC AGTGGTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTC GTTACGGCGGCTTTCGGCCTCACTGGTAGTGAGTGGTAAAGTTTCACTGG AACACAGCGCCCATCTGTGTCGTTACGGC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	502924	T T	TGGGCGCT others(348): Show TGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTACCACTGAGGCCGA AAGCCGCCGTAACGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACC ACTCACTACCAGTGAGGCCGAAAGCCGCCGTAACGACACAGATGGGCGCT GTGTTCCAGTGAAACTTTACCACTCACTACCACTGAGGCCGAAAGCCGCC GTAACGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTA CCACTGAGGCCGAAAGCCGCCGTAACGACACAGATGGGCGCTGTGTTCCA GTGAAACTTTACCACTCACTACCACTGAGGCCGAAAGCCGCCGTAACGAC ACAGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	218	0.0046	355	c.212 others(374): Show c.212-10854_212-10853insGTCTGTGTCGTTACGGCGGCTTTCGG CCTCAGTGGTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCATCTG TGTCGTTACGGCGGCTTTCGGCCTCAGTGGTAGTGAGTGGTAAAGTTTCA CTGGAACACAGCGCCCATCTGTGTCGTTACGGCGGCTTTCGGCCTCAGTG GTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCGTTA CGGCGGCTTTCGGCCTCACTGGTAGTGAGTGGTAAAGTTTCACTGGAACA CAGCGCCCATCTGTGTCGTTACGGCGGCTTTCGGCCTCAGTGGTAGTGAG TGGTAAAGTTTCACTGGAACACAGCGCCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(348): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATATAAAATATATATATTATATAA TATATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATGTAATATT ATATATAATATATATATTATATATATTATATATTATATATATTATATATA TTATATATAATATATATTATATATATTATATATAATATATTATATATAAT ATATATAATATATATAATATATATATTATATATAATATATATAATATATA TAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	190	0.0053	355	c.151 others(374): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATATAAAATATATATATTATATAATA TATATATAAAATATATATATTATATAATATATATATAAAATATATATATT ATATAATATATATATAAAATATATATATTATATAATATATGTAATATTAT ATATAATATATATATTATATATATTATATATTATATATATTATATATATT ATATATAATATATATTATATATATTATATATAATATATTATATATAATAT ATATAATATATATAATATATATATTATATATAATATATATAATATATATA AAAAATATATATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMC5_chr9_70253978_70359873	70358709	A A	AAATATTT others(348): Show AAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	366	0.0027	355	c.63 others(366): Show c.6378_*6379insAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding		3837		chr9	TogoVar
SPNS3_chr17_4428940_4493204	4462381	C C	CCACCAAT others(348): Show CCACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCC ATCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCAT CCATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTC ATCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCAT CCATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCC ATCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCAT CCATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCA ATCTAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	362	0.0028	355	c.111 others(374): Show c.1113+9178_1113+9179insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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