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
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(352): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGA ATACTTTTTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	170	0.0059	359	c.175 others(380): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTCTTT TTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAA AGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTA CTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTT TTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAA AGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTA CTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NSMCE1_chr16_27219994_27273772	27246963	T T	TAAAACTC others(352): Show TAAAACTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCT GGCTAACACGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0142 a0003c0004t0001g0142	1	334	0.0030	359	c.136 others(378): Show c.136+10471_136+10472insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC GGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTAGGAGTTTT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE2_chr8_125086860_125372120	125327684	T T	TAAAAGTA others(352): Show TAAAAGTAAGATTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGTAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01943.hp2 NA18946.hp1 others(4): Show HG01123.hp2 HG01943.hp2 NA18946.hp1 NA18960.hp2 NA18961.hp2 NA18974.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0083 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0039 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0206 a0001c0001t0001g0208	7	244	0.0287	359	c.419 others(378): Show c.419-29521_419-29520insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGTAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGTAAGATTTC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(352): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCTCCCCTCCCCTCCCCTCCCACCCTCCCACCCTCCCCTTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCT TCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCC CTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCTCCCCTTCCCCTCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0182	1	326	0.0031	359	c.433 others(376): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAAGGGGA GAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGG GGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGTGGGA GGGTGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56739527	A A	ACTCCCCC others(352): Show ACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCCGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGCTGACTCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACATCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGG GGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	378	0.0027	359	c.-14 others(376): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGGGCTGACC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739527	A A	ACTCCCCC others(352): Show ACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCCGGGGGCTG ACACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGCTGACTCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACATCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGG GGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	378	0.0027	359	c.-14 others(376): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCCGGGGGCTGACACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGA CTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTG ACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGGCTGACC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(352): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCCGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGACGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	186	0.0054	359	c.242 others(376): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCCGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGACGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(352): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 NA18747.hp2 others(4): Show HG00741.hp2 HG01099.hp2 NA18747.hp2 NA18994.hp2 NA19083.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0043 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0142 a0001c0001t0021g0016	7	186	0.0376	359	c.242 others(376): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSGIN1_chr16_83948240_83971332	83950478	T T	TACATGCA others(352): Show TACATGCACACATGAGCACATGTGCACACATGCACAACACGTACACGCAC ACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACAT GCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGT ACACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTG GCACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0005	1	350	0.0029	359	c.-29 others(370): Show c.-2925_-2924insACATGCACACATGAGCACATGTGCACACATGCAC AACACGTACACGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACA TACTGGCACACACGTACACACACATGCACACATGAGCACATGTGCACACA TGCACATACATACTGGCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2761		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951892	C C	CCTCCCTC others(352): Show CCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTC CCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCT CCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCC TCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTC CCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTC CCTACTTCCCTCCCTCCCTGCCTCCCTCCCTCCTTCCTTCCCTCCCTCCC TGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG CCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0169 a0003c0006t0008g0169	1	350	0.0029	359	c.-15 others(370): Show c.-1511_-1510insCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCT CCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCT CCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTC CCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTC CACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCC CTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCCTCCTT CCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCC TTCCCTCCCTCCCTGCCTCCCTCCT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1347		chr16	TogoVar
PAK1_chr11_77317017_77479094	77332357	G G	GGGAAGAG others(352): Show GGGAAGAGGGGGGGGAAAGGGAAGGGAAGGGGAGGGGAGGGGGGAGGGGA GGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGG GGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGA GGGGGAGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGG AGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGA GGGGGAGGGAGGGGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGAGGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGGAG GGAAGGGGAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	302	0.0033	359	c.155 others(376): Show c.1551+372_1551+373insTTCCCCTTCCCTCCCCTTCCCTTCCTTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTC CCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTTCCCTTCCCTTTCCCCCCCCTCTTCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(352): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCC TCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0034 a0034	a0034c0045 a0034c0045	a0034c0045t0010 a0034c0045t0010	a0034c0045t0010g0122 a0034c0045t0010g0122	1	166	0.0060	359	c.633 others(376): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(352): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02132.hp2 HG02165.hp1 others(12): Show HG02015.hp2 HG02132.hp2 HG02165.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 NA18747.hp1 NA18952.hp1 NA18960.hp2 NA18965.hp1 NA18990.hp2 NA18999.hp2 NA19066.hp1 NA19087.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0003 a0001c0002t0001g0172 a0001c0002t0001g0311 others(10): Show a0001c0002t0001g0003 a0001c0002t0001g0172 a0001c0002t0001g0311 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0331 a0001c0002t0001g0333 a0002c0003t0001g0300 a0002c0003t0001g0302	15	360	0.0417	359	c.35 others(370): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCC CCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGC ACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCA CCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCAT CCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTC CCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PIMREG_chr17_6439455_6456469	6455713	G G	GGGGAGGA others(352): Show GGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGG GGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGG GAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGA GGGGATGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	312	0.0032	359	c.53 others(370): Show c.5366_*5367insGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGG AGGGAAGGGGGAAGAGGGGATGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4245		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455713	G G	GGGGAGGA others(352): Show GGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGG GGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGG GAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGA GGGGATGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	359	c.53 others(370): Show c.5366_*5367insGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGG AGGGAAGGGGGAAGAGGGGATGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4245		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455713	G G	GGGGAGGA others(352): Show GGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGG GGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGG GAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGA GGGGATGGGA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0138 a0001c0001t0045g0138	1	218	0.0046	359	c.262 others(374): Show c.2620-71_2620-70insTCCCATCCCCTCTTCCCCCTTCCCTCCTCT CCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCT CCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCC CCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCC TCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTC CCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCC TTCCCCTCTTCCCCCTCCCATCTCCTCCC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKP3_chr11_389209_409908	401882	C C	CGCTCACC others(352): Show CGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCT CACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCC CCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGAC CCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACAC CCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGC CCCGCTCACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0133 a0001c0002t0001g0134	2	216	0.0093	359	c.173 others(378): Show c.1737+1177_1737+1178insGCTCACCCCCGACCCGCTCACCCCGG GCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCTCACACCCGACCC GCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCA CCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTCACAC CCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGA CCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTC ACCCCGGCCCCGCTCACCCCGGCCCCGCTCACA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLCB1_chr20_8127266_8889900	8661945	A A	ATATATAT others(352): Show ATATATATAATTATATAATTATTTATTATATAATTATATATAATTATATA ATTATTATATAATTATATATAATTATATAATTATTTATTATATAATTATA TATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTAT TTATTATATAATTATATATAATTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATA TAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATTT ATTATATAAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0099 a0001c0008t0001g0101 a0001c0008t0001g0099 a0001c0008t0001g0101	2	106	0.0189	359	c.862 others(376): Show c.862+3296_862+3297insATATAATTATATATAATTATATAATTAT TTATTATATAATTATATATAATTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATA TAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATTT ATTATATAATTATATATAATTATATAATTATTTATTATATAATTATATAT AATTATATAATTATTTATTATATAATTATATATAATTATATAATTATTTA TTATATAATTATATATAATTATATAATTATT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8711473	T T	TAAAAGTT others(352): Show TAAAAGTTCATTAATAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAG GTCGGACTGCGGACTGCAGTAGCGCAATCTCGGCTCACTGCAAGCTCCAC TTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTGTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	106	0.0094	359	c.125 others(378): Show c.1250+2742_1250+2743insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCC AGGTCGGACTGCGGACTGCAGTAGCGCAATCTCGGCTCACTGCAAGCTCC ACTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTGTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCAAAAGTTCATTAATAATTTCT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(352): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTGTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGG ACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGC GCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	294	0.0034	359	c.550 others(376): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA CAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(352): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGG ACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGC GCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18964.hp2 NA19012.hp2 HG03654.hp1 NA18964.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0154	3	294	0.0102	359	c.550 others(376): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(352): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGAGGG GGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGG CGGGGCGGGGAGGAGGGGAGGGAGGGGAAGGGGAGGAGGGGGGGAGGGGA GGGGAGGAAGGCGGGGACGGCAGCGGCGGGCAGGGGAGCAGCGGGCGGGG CGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAGGAGGGAGGGGGAGG GGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGAGGGGGGAG GGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	354	0.0028	359	c.-27 others(368): Show c.-277_-276insTCCCCTCCCCCTCCCCCCTCCCTCCTCCCCTCCCCC CTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCG CCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCC GCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCC CTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGC CGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCC CTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133769	C C	CTCTTCCT others(352): Show CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	227	0.0044	359	c.23 others(370): Show c.2337_*2338insTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCT CTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCTC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTC CCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2057		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	504269	T T	TCCTCCTG others(352): Show TCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCAGCTCCTTGTGTACC CCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTC ACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCTTGCAC CCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGTACCCCCTCACCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCCCACCTCCTCCTGTACCCCCT CACCTCCTCTTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTG CACCCCCTCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0022 a0004c0007t0022	a0004c0007t0022g0067 a0004c0007t0022g0067	1	295	0.0034	359	c.139 others(378): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CAGCTCCTTGTGTACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCT CCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCC TCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGT GTACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCACC TCCTCCTGTACCCCCTCACCTCCTCTTGCACTCCCATCTCCTCCTGTACC CCCTCACCTCCTTGTGCACCCCCTCACCTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAI14_chr5_34651328_34837612	34717925	T T	TCCAACCC others(352): Show TCCAACCCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGGAGGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACCGG CGCCCGCCACTACGCCCGGCTAGTTTTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0224 a0002c0007t0006g0224	1	254	0.0039	359	c.36+ others(376): Show c.36+30984_36+30985insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGGAGGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACCGGCGCCCGCCACTACGCCCGGCTAGTTTTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCCCAACCCTGCTCTT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RELB_chr19_44996464_45043192	45038561	T T	TAAAAAAT others(352): Show TAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	382	0.0026	359	c.77 others(368): Show c.771_*772insAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding		370		chr19	TogoVar
RFTN1_chr3_16310845_16518699	16403682	A A	ATATAATA others(352): Show ATATAATATATTTTATATATATTTTATATATATTATATATATTTTATATA TATAATATATAAATATAATATATAATATATATTTTATATATATTATATTA TATTTTTATATAATATATAATATATATTTTATATATATTTTATATATAAT ATATAATACATATTTTATATATATTTTATATATAATATATAATACATATT TTATATATATTTTATATATAATATATAATACATATTTTATATATATTTTA TATATAATATATAATACATATTTTATATATATTTTATATATAATATATAA TACATATTTTATATATATTTTATATATATTTTATATATAATATATATTTT ATATATATTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp1 HG00099.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0054 a0001c0002t0011g0053 a0001c0002t0002g0054 a0001c0002t0011g0053	2	268	0.0075	359	c.441 others(376): Show c.441+5692_441+5693insAAATATATATAAAATATATATTATATAT AAAATATATATAAAATATATATAAAATATGTATTATATATTATATATAAA ATATATATAAAATATGTATTATATATTATATATAAAATATATATAAAATA TGTATTATATATTATATATAAAATATATATAAAATATGTATTATATATTA TATATAAAATATATATAAAATATGTATTATATATTATATATAAAATATAT ATAAAATATATATTATATATTATATAAAAATATAATATAATATATATAAA ATATATATTATATATTATATTTATATATTATATATATAAAATATATATAA TATATATAAAATATATATAAAATATATTATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(352): Show TAATATATATATAAAATATATATATATAATATATATATAAAATATATATA TATAATATATATATATAAAATATATATATATAATATATATATATAAAATA TATATATATAATATATATATATAAAATATATATATATAATATATATATAT AAAATATATATATATAATATATATATATAAAATATATATATAAAATATAT ATATAATATATATATATAAAATATATATATAAAATATATATATATAATAT ATATATAAAATATATATATATATTATATATATATATAATATATATATAAA ATATATATATAATATATATATAAAATATATATATAATATATATATAATAT ATATATATAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	410	0.0024	359	c.67- others(372): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATATTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATATTATA TATATATATTTTATATATATATATTATATATATATATTTTATATATATAT TATATATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(352): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	280	0.0036	359	c.3+2 others(374): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF223_chr1_1065967_1079306	1076609	G G	GCCGGGAG others(352): Show GCCGGGAGGCGGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTATG GGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGC TGAGGCTATGGGGACTCGTGCGGGGTGGGCTGAGGCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATG GGGACTCCATGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTATGG GGACTCCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	359	c.-26 others(370): Show c.-2604_-2603insGACGGAGTCCCCATAGCCTCAGCCTCCCCCGACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCATAGCCTCAGCCT CCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATA GCCTCAGCCTCCCCCCATGGAGTCCCCATAGACTCAGCCTCCCGGCACGG AGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCC ACCCCGCACGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATA GACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCACGG AGTCCCCGTAGACTCCGCCTCCCGG	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2304		chr1	TogoVar
RNGTT_chr6_88604897_88968618	88726765	A A	ACCCATCT others(352): Show ACCCATCTATACCAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAA CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	220	0.0046	359	c.143 others(380): Show c.1439+43008_1439+43009insGCCGGGCGCGTTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAATTGGTATAGATGGG	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
ROCK2_chr2_11174759_11349636	11286234	T T	TTAAGCAG others(352): Show TTAAGCAGATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0021 a0002c0004t0002g0021	1	320	0.0031	359	c.324 others(374): Show c.324+304_324+305insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAACATCTGCTTA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	3/32			chr2	TogoVar
RPH3AL_chr17_207389_357807	242591	A A	ACCTTCCT others(352): Show ACCTTCCTCTATTGCCTACCTTCCTCTATTGACTACCTTCCTCTATTGAC TACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGA CTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTG ATTACCTTCCTCTATTGCCTACCTTCCTCTATTGACTACCTTCCTCTATT GATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTAT TGATTCCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTA TTGATTCCCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTC TATTGATTAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	359	c.613 others(376): Show c.613+4519_613+4520insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGGGAATCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAGTCAATAGAGGAAGGGAATCAATAGAGGAAGGTAGTCAA TAGAGGAAGGTAGTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCA ATAGAGGAAGGTAGGCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATC AATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGT CAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAG TCAATAGAGGAAGGTAGGCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
SCN11A_chr3_38840764_39056944	38877630	A A	ATATATAT others(352): Show ATATATATGGTGTATATATGGTGTATATACTATATATATGGTGTATATAT GGTGTATATACTATATATATGGTGTATATATGGTGTATATACTATATATA TGGTGTATATATGGTGTATATACTATATATATGGTGTATATATGGTGTAT ATACTATATATATGGTGTATATATGGTGTATATACTATATATATGGTGTA TATATGGTGTATATACTATATATATGGTGTATATATGGTGTATATACTAT ATATATGGTGTATATATGGTGTATATACTATATATATGGTGTATATACTA TATATATGGTGTATATATGGTGTATATACTATATATATGGTATATATATG GTGTATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0308 a0001c0006t0003g0308	1	314	0.0032	359	c.339 others(378): Show c.3393+2319_3393+2320insGTATATACACCATATATATACCATAT ATATAGTATATACACCATATATACACCATATATATAGTATATACACCATA TATATAGTATATACACCATATATACACCATATATATAGTATATACACCAT ATATACACCATATATATAGTATATACACCATATATACACCATATATATAG TATATACACCATATATACACCATATATATAGTATATACACCATATATACA CCATATATATAGTATATACACCATATATACACCATATATATAGTATATAC ACCATATATACACCATATATATAGTATATACACCATATATACACCATATA TATAGTATATACACCATATATACACCATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SIDT1_chr3_113527555_113634575	113558223	T T	TCATGGCT others(352): Show TCATGGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	318	0.0031	359	c.223 others(376): Show c.223-8182_223-8181insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCATGGCTTCTTTTTT	SIDT1	ENSG00000072858.11	transcript	ENST00000264852.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SIGIRR_chr11_400716_419999	401671	C C	CACCCGGC others(352): Show CACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCC GCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCC GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCCGC CCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	242	0.0041	359	c.42 others(370): Show c.4224_*4225insTGTGAGCGGGGCGGGGTGTGAGCGGGGCCGGGGG TGAGCGGGGCCGGGGGTGAGCGGGGCGGGGTGTGAGCGGGGCGGGTGTGA GCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGG CGGGTGTGAGCGGGGCGGGTGTGAGCGGGGGCCGGGGGTGAGCGGGGCCG GGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGT GAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGC GGGTCGGGTGTGAGCGGGGCCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4044		chr11	TogoVar
SIGIRR_chr11_400716_419999	401882	C C	CGCTCACC others(352): Show CGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCT CACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCC CCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGAC CCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACAC CCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGC CCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	242	0.0041	359	c.40 others(370): Show c.4013_*4014insTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTG AGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCG GGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGT CGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGG TGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGT GAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCG GGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCC CGGGGTGAGCGGGTCGGGGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3833		chr11	TogoVar
SIGIRR_chr11_400716_419999	401882	C C	CGCTCACC others(352): Show CGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCT CACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCC CCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGAC CCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACAC CCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGC CCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0079 a0001c0001t0001g0083	2	242	0.0083	359	c.40 others(370): Show c.4013_*4014insTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTG AGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCG GGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGT CGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGG TGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGT GAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCG GGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCC CGGGGTGAGCGGGTCGGGGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3833		chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(352): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGCGGCAGGGGGGAGGCGGG GGGGCGGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGG GCGGGAGGGGGAGGAGTCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGG GAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGC GGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGA GGGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAG GGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGG GGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02622.hp1 others(4): Show HG02258.hp1 HG02280.hp1 HG02622.hp1 HG02630.hp1 HG02976.hp1 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0005 a0001c0001t0007 a0001c0001t0021 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0021 a0001c0001t0036 a0001c0001t0056 a0001c0010t0026	a0001c0001t0005g0027 a0001c0001t0005g0052 a0001c0001t0007g0191 others(4): Show a0001c0001t0005g0027 a0001c0001t0005g0052 a0001c0001t0007g0191 a0001c0001t0021g0185 a0001c0001t0036g0118 a0001c0001t0056g0207 a0001c0010t0026g0021	7	222	0.0315	359	c.914 others(378): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCCCTCCCGCCCCCCCGCCT CCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCC CGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCC CCCCTCCCGCCCCCCCGACTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCC CCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGC CGCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(352): Show AAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAAATATAAATATAATATATATTATATATAAATATAAATATA TTATATATTATATAAATATAAATATATTATATATTATATAAATATAAATA TATTATATATTATATATAAATATAAATATATTATATATTATATATAAATA TAAATATATTATATATATTATATATAATATAAATATATTAATATATTATA TATAATATAAATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp1 HG02615.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0226 a0001c0001t0002g0123 a0001c0001t0002g0226	2	346	0.0058	359	c.-70 others(376): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTTATATATAATATAT AATATATTTATATTTATATATAATATATAATATATTTATATTTATATAAT ATATAATATATTTATATTTATATAATATATAATATATTTATATTTATATA TAATATATATTATATTTATATTTATATATAATATATATAATATATTTATA TTATATATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC66A2_chr18_79897420_79956653	79952592	A A	AAGTGTGA others(352): Show AAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGT GAGGGGCGCGCGGGTGAGGGGTGAGGGGTGAGGGGCGCGCGAGTGAAGAG TGAGGGGAGCGTGGGTGAGGGGTGAGGGGAGCGCGGGTGAAGAGTGAGGG GAGCGCGGGTGAAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGC GGGTGAGGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAGTGAGGGGAGCG TGGGTGAGGGGTGAGGGGAGCGCGGGTGAAGGGTGAGGGGAGCGTGGGTG AGGGGTGAGGGGAGCGCGGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGT GAGGGGAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	352	0.0028	359	c.-11 others(370): Show c.-1112_-1111insCGCTCCCCTCACCCCTCACCCACGCTCCCCTCAC CCTTCACCCGCGCTCCCCTCACCCCTCACCCACGCTCCCCTCACCCTTCA CCCGCGCTCCCCTCACCCCTCACCCACGCTCCCCTCACTCTTCACCCGCG CGCCCCTCACCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGC GCTCCCCTCACACTTCACCCGCGCTCCCCTCACTCTTCACCCGCGCTCCC CTCACCCCTCACCCACGCTCCCCTCACTCTTCACTCGCGCGCCCCTCACC CCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCAC CCCTCACCCGCGCTCCCCTCACACT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		940		chr18	TogoVar
SLC6A19_chr5_1196595_1230111	1222062	G G	GATATGTA others(352): Show GATATGTATCGTGTGTGCATGTACATGCATGGGCACTGTGTGAGTGGTAG TGTGGTTGTTTTTAATAAATATATATATTCGATATTTTTATTATTATATT ATATATATAAGAAATATATGATTATAGTTAATTATAATGTAAGATATTTG ATAATGAACTATTAAATAATTTAATATAATTTTTTTATGAAATATATTGA TTTTAATTGTAAATAAAGATTTTTTATTGTTATAAAATATAATTTAATAA ATTATATTAGAATAATATTTAATTATATTTTAAATTATGATAATTATGAT TAAATAATGTTAAAATAAATTAATATATAAATGATTAAATATTATAAATA ATTAATTATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0024 a0002c0006t0024	a0002c0006t0024g0307 a0002c0006t0024g0307	1	458	0.0022	359	c.20 others(368): Show c.203_*204insGTAGTGTGGTTGTTTTTAATAAATATATATATTCGA TATTTTTATTATTATATTATATATATAAGAAATATATGATTATAGTTAAT TATAATGTAAGATATTTGATAATGAACTATTAAATAATTTAATATAATTT TTTTATGAAATATATTGATTTTAATTGTAAATAAAGATTTTTTATTGTTA TAAAATATAATTTAATAAATTATATTAGAATAATATTTAATTATATTTTA AATTATGATAATTATGATTAAATAATGTTAAAATAAATTAATATATAAAT GATTAAATATTATAAATAATTAATTATAATATGTATCGTGTGTGCATGTA CATGCATGGGCACTGTGTGAGTG	SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding	12/12	204	INFO_REALIGN_3_PRIME	chr5	TogoVar
SLCO1B1_chr12_21126194_21244796	21166661	A A	ACAAGAAC others(352): Show ACAAGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18959.hp1 NA18942.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0131 a0001c0001t0003g0132	2	318	0.0063	359	c.85- others(374): Show c.85-5978_85-5977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAAGAACTCTT	SLCO1B1	ENSG00000134538.3	transcript	ENST00000256958.3	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMIM36_chr17_55444856_55516452	55500977	A A	ACATTATA others(352): Show ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATACATTATATTTTATGATATA TAATATACATTATATTTTATGATATATAATATACATTATATTTTATGATA TATAATATACATTATATTTTATGATATATAATATACATTATATTTTATGA TATATAATATACATTATATTTTATGATATATAATATACATTATATTTTAT GATATATAATATACATTATATTTTATGATATATAATATACATTATATTTT ATGATATATT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03098.hp1 HG02895.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0006 a0001c0003t0004g0007 a0001c0003t0004g0006 a0001c0003t0004g0007	2	340	0.0059	359	c.17 others(378): Show c.174+9901_*174+9902insAATATATCATAAAATATAATGTATAT TATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTAT ATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGT ATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAAT GTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATA ATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55500977	A A	ATTTTATA others(352): Show ATTTTATATTATAATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATACATTATATTTTATGATATA TAATATATATTATATTTTATGATATATAATATATATTATATTTTATGATA TATAATATATATTATATTTTATGATATATAATATATATTATATTTTATGA TATATAATATATATTATATTTTATGATATATAATATATATTATATTTTAT GATATATAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0334 a0002c0002t0002g0334	1	340	0.0029	359	c.17 others(378): Show c.174+9901_*174+9902insATTATATATCATAAAATATAATATAT ATTATATATCATAAAATATAATATATATTATATATCATAAAATATAATAT ATATTATATATCATAAAATATAATATATATTATATATCATAAAATATAAT ATATATTATATATCATAAAATATAATATATATTATATATCATAAAATATA ATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATTATAATATAAAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SPDYE10_chr7_73099008_73160431	73126039	T T	TAGAAGGG others(352): Show TAGAAGGGTCCAGACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTGATGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	216	0.0046	359	c.-63 others(380): Show c.-639-10498_-639-10497insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCACCATCACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTGTCTGGACCCTTCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPPL3_chr12_120757510_120909358	120866973	T T	TAAAACAT others(352): Show TAAAACATTAGTGCTTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	320	0.0031	359	c.23+ others(376): Show c.23+36871_23+36872insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTCAAGCACTAATGTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
STOML3_chr13_38960925_38995831	38988362	T T	TTATATAA others(352): Show TTATATAAAATATATTATATTTTATATCATATATTTTATATATAATATAT TATATTTTATATCATATATTTTATATCATATATATTATATTTTATATAAA ATATATTATATTTTATATAAAATATAATATATTTTATATCATATATTTTA TAAATAATATATTATATTTTATATCATATATTTTATATATAATATATTAT ATTTTATATCATATATTTTATATATAATATATTATATTTTATATCATATA TTTTATATATAATATATTATATTTTATATCATATATTTTATATATAATAT ATTATATTTTATATCATATATTTTATATCATATATATTATATTTTATATC ATATATTTTA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	396	0.0025	359	c.52+ others(374): Show c.52+2307_52+2308insTAAAATATATGATATAAAATATAATATATA TGATATAAAATATATGATATAAAATATAATATATTATATATAAAATATAT GATATAAAATATAATATATTATATATAAAATATATGATATAAAATATAAT ATATTATATATAAAATATATGATATAAAATATAATATATTATATATAAAA TATATGATATAAAATATAATATATTATTTATAAAATATATGATATAAAAT ATATTATATTTTATATAAAATATAATATATTTTATATAAAATATAATATA TATGATATAAAATATATGATATAAAATATAATATATTATATATAAAATAT ATGATATAAAATATAATATATTTTATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STXBP4_chr17_54963765_55178632	55038729	T T	TCATAGTA others(352): Show TCATAGTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC AGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0070 a0003c0004t0070	a0003c0004t0070g0277 a0003c0004t0070g0277	1	378	0.0027	359	c.855 others(376): Show c.855+4484_855+4485insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCATAGTATGATTTT	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TGTGTGTA others(352): Show TGTGTGTATATACATATACACACATATGTGTGTATATACATATATACATA TATACATATATACATATATACACATATGTGTACATATGTGTATATATACA TATATATACACATATATATGTATATATACACATATGTGTACATATGTGTA TATATACATATATACACATATATATGTATATATACACATATGTGAATATA TATGTGTTATATATACACATATGTGTATATGTATATATGTATATATACAC ATATGTGAATATATACATATATACATATACACATATGTGTATATATAACA CATATATATACACATATGTGTATATATACATATATACATATACACATATG TGTATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	376	0.0027	359	c.158 others(378): Show c.1582-2869_1582-2868insGTGTGTATATACATATACACACATAT GTGTGTATATACATATATACATATATACATATATACATATATACACATAT GTGTACATATGTGTATATATACATATATATACACATATATATGTATATAT ACACATATGTGTACATATGTGTATATATACATATATACACATATATATGT ATATATACACATATGTGAATATATATGTGTTATATATACACATATGTGTA TATGTATATATGTATATATACACATATGTGAATATATACATATATACATA TACACATATGTGTATATATAACACATATATATACACATATGTGTATATAT ACATATATACATATACACATATGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar

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