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
GAPVD1_chr9_125256826_125372207	125265636	C C	CTCCTGAC others(831): Show CTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCGGGGTTAT AGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTATGT TGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTAGA AAGGGGTATTGGTGCTAGAATTAACATTGAATTATAATCAGTATAACTGA TTAGTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGATTG AGATTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATAAA AAAAATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCCCA GCACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCGAG ACCAGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAAAT TAGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCTTG AGGCAGGAGAATCCCTTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTCAA AAAAAATTTTTTTTTTCTTTTCTTTTTTTTTTGAGGCGGAGTCTGGCTCT GTCGCCCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGCTCT GCCTCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGG ACTACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAGTAG AGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(119): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19007.hp1 NA19043.hp2 NA19055.hp2 NA19060.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0001c0013 a0002c0006 a0004c0008 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0036 a0001c0003t0004 a0001c0003t0006 a0001c0003t0018 a0001c0004t0001 a0001c0004t0002 a0001c0010t0006 a0001c0013t0002 a0002c0006t0011 a0004c0008t0002 a0007c0015t0002	a0001c0001t0001g0018 a0001c0001t0001g0052 a0001c0001t0001g0314 others(119): Show a0001c0001t0001g0018 a0001c0001t0001g0052 a0001c0001t0001g0314 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0174 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0008g0034 a0001c0001t0008g0054 a0001c0001t0008g0057 a0001c0001t0008g0115 a0001c0001t0008g0117 a0001c0001t0012g0102 a0001c0001t0012g0103 a0001c0001t0015g0063 a0001c0001t0015g0067 a0001c0001t0016g0053 a0001c0001t0017g0014 a0001c0001t0028g0113 a0001c0001t0029g0077 a0001c0001t0030g0141 a0001c0001t0031g0105 a0001c0001t0033g0039 a0001c0001t0036g0091 a0001c0003t0004g0020 a0001c0003t0004g0021 a0001c0003t0004g0130 a0001c0003t0004g0136 a0001c0003t0006g0132 a0001c0003t0006g0134 a0001c0003t0006g0135 a0001c0003t0006g0137 a0001c0003t0006g0138 a0001c0003t0018g0131 a0001c0004t0001g0038 a0001c0004t0002g0046 a0001c0004t0002g0047 a0001c0010t0006g0133 a0001c0013t0002g0048 a0002c0006t0011g0142 a0002c0006t0011g0143 a0004c0008t0002g0086 a0007c0015t0002g0049	122	281	0.4342	838	c.-19 others(857): Show c.-198-3279_-198-3278insGCCTTGGCCTCCCAAAGTGCGGGGTT ATAGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTAT GTTGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTA GAAAGGGGTATTGGTGCTAGAATTAACATTGAATTATAATCAGTATAACT GATTAGTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGAT TGAGATTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATA AAAAAAATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCC CAGCACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCG AGACCAGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAA ATTAGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCT TGAGGCAGGAGAATCCCTTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCG AGATCGCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTC AAAAAAAATTTTTTTTTTCTTTTCTTTTTTTTTTGAGGCGGAGTCTGGCT CTGTCGCCCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGCT CTGCCTCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTG GGACTACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAGT AGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATATCCTGACCT CGTGATCTGCCC	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125265636	C C	CTCCTGAC others(831): Show CTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCGGGGTTAT AGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTATGT TGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTAGA AAGGGGTATTGGTGCTAGAATTAACATTGAATTATAATCAGTATAACTGA TTAGTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGATTG AGATTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATAAA AAAAATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCCCA GCACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCGAG ACCAGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAAAT TAGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCTTG AGGCAGGAGAATCCCTTGAACCTGGGAGGTGGAGCTTGCGGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTCAA AAAAAATTTTTTTTTTCTTTTCTTTTTTTTTTGAGGCGGAGTCTGGCTCT GTCGCCCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGCTCT GCCTCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGG ACTACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAGTAG AGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18950.hp2 NA18949.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0120 a0001c0001t0002g0121	2	161	0.0124	838	c.-19 others(857): Show c.-198-3279_-198-3278insGCCTTGGCCTCCCAAAGTGCGGGGTT ATAGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTAT GTTGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTA GAAAGGGGTATTGGTGCTAGAATTAACATTGAATTATAATCAGTATAACT GATTAGTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGAT TGAGATTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATA AAAAAAATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCC CAGCACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCG AGACCAGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAA ATTAGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCT TGAGGCAGGAGAATCCCTTGAACCTGGGAGGTGGAGCTTGCGGTGAGCCG AGATCGCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTC AAAAAAAATTTTTTTTTTCTTTTCTTTTTTTTTTGAGGCGGAGTCTGGCT CTGTCGCCCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGCT CTGCCTCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTG GGACTACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAGT AGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATATCCTGACCT CGTGATCTGCCC	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAS6_chr13_113815549_113869076	113816252	G G	GGGGAGAC others(831): Show GGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTC ACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGGTTCTTT TCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGTATGGGGAGAGGTGCAG TCACTGGTCAGGGACACGGTTTCTTTTCGGGGAGGCAAGCGTGTTCGCAG CGTGTTCTGTATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGAGTTCT TTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGTATGGGGAGAGGTGC AGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGC AGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTT CTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGT GCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTC GCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGG TTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAG GTGCAGTCACTGGTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGT TCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACG GGTTCTTTTCGGGGAGGCAAGCATGTTCTAAGCGTGTTCTGGATGGGGAG GGAGGTGCAGTCACTGGTCAGGGACATGGTTTCTTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	104	0.0096	838	c.46 others(849): Show c.4611_*4612insTGAAAAGAAACCATGTCCCTGACCAGTGACTGCA CCTCCCTCCCCATCCAGAACACGCTTAGAACATGCTTGCCTCCCCGAAAA GAACCCGTGTCCCTGACCAGTGACTGCACCTCTCCCCATCCAGAACACGC TGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGACCAGTGAC TGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGTCTCCCCGAA AAGAACCCGTGTCCCTGAGCAGTGACTGCACCTCTCCCCATCCAGAACAC GCTGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGAGCAGTG ACTGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGTCTCCCCG AAAAGAACCCGTGTCCCTGAGCAGTGACTGCACCTCTCCCCATCCAGAAC ACGCTGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGAGCAG TGACTGCACCTCTCCCCATACAGAACACGCTGCGAACACGCTTGCCTCCC CGAAAAGAACTCGTGTCCCTGACCAGTGACTGCACCTCTCCCCATACAGA ACACGCTGCGAACACGCTTGCCTCCCCGAAAAGAAACCGTGTCCCTGACC AGTGACTGCACCTCTCCCCATACAGAACACGCTGCGAACACGCTTGTCTC CCCGAAAAGAACCCGTGTCCCTGACCAGTGACTGCACCTCTCCCCATCCA GAACACGCTGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGA GCAGTGACTGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGTC TCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		4296		chr13	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(831): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC ACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCAC AGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCC CCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	5	0.2000	838	c.-41 others(853): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCC CCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGC CACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAG CCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(831): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCC CCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCACCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	5	0.2000	838	c.-41 others(853): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCC CCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGC CACCCCCCCACAGCCACCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAG CCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF25_chr6_167992671_168050091	167997264	G G	GCGGGGGA others(831): Show GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGC GACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGACGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	296	0.0034	838	c.-22 others(849): Show c.-2205_-2204insCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAAT CTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGACGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGG GCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		406		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997395	A A	ATCTGCAG others(831): Show ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAG AGATGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGA GATGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAGTCTGCAGAGAT GGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 NA18990.hp1 NA18995.hp2 HG02074.hp2 NA18990.hp1 NA18995.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0203 a0001c0001t0001g0206 a0003c0004t0001g0224 a0001c0001t0001g0203 a0001c0001t0001g0206 a0003c0004t0001g0224	3	315	0.0095	838	c.-20 others(849): Show c.-2074_-2073insTCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTC GGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGG GGAGTCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		275		chr6	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGC others(831): Show CTGTGTGCATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTGTGT GCATGTGTGTATCTCTGTGTGTGCATGTGTGTATCTGTGTGCATGTGTGT ATCTCTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGC ATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTG CGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTG TGTGCATGTGCATGTGATGTGTGTATCTGTGTGTGCATATATCTGTGTGT GCATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTAT CTATGTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCAT GTGCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATC TGGGTGTGTGCATGTGTGTGCATGTGTGTGCATGTGTGTGCATATGTGTA TCTGTGTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTG TGCATGTGCGTATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGT ATCTGTGTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTGTGTG TATTCATGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTGTGCA TGTATCTGTGTGTGCGCATGTGTGTATCTGTGTTTGCATGTGTGTATCTG TGTGTGTGCATGTGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01106.hp1 others(17): Show HG00280.hp1 HG00738.hp2 HG01106.hp1 HG01123.hp1 HG01192.hp1 HG01255.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01952.hp2 HG02083.hp2 HG02615.hp1 HG02738.hp2 NA18948.hp2 NA18999.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0011 a0001c0012 a0002c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 a0001c0001t0032 a0001c0001t0041 a0001c0001t0042 a0001c0002t0003 a0001c0002t0016 a0001c0003t0001 a0001c0003t0035 a0001c0004t0027 a0001c0009t0031 a0001c0011t0001 a0001c0012t0001 a0002c0013t0001	a0001c0001t0002g0092 a0001c0001t0003g0047 a0001c0001t0004g0095 others(17): Show a0001c0001t0002g0092 a0001c0001t0003g0047 a0001c0001t0004g0095 a0001c0001t0011g0016 a0001c0001t0015g0061 a0001c0001t0032g0097 a0001c0001t0041g0064 a0001c0001t0042g0099 a0001c0002t0003g0081 a0001c0002t0003g0086 a0001c0002t0003g0114 a0001c0002t0016g0091 a0001c0003t0001g0067 a0001c0003t0001g0094 a0001c0003t0035g0088 a0001c0004t0027g0013 a0001c0009t0031g0028 a0001c0011t0001g0112 a0001c0012t0001g0072 a0002c0013t0001g0054	20	53	0.3774	838	c.55+ others(857): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGCGC ACACACAGATACATGCACACACAGATATGTGTACACACAGATACACACAT GCACACATGAATACACACACGCAGATACATGCACACACACAGATACCACG TGCACACACAGATACATGCACACACACAGATACACACATGCACAACACAG ATACGCACATGCACACACAGATATACACATGCACACACACAGATACACAC ATGCACACACAGATACACATATGCACACACATGCACACACATGCACACAC ATGCACACACCCAGATACCACGTGCACATGCACACAGATACACACATGCA CAGATACATGCACATGCACAGATACATGCACATGCACACACAGACACACA CATGCACACATAGATACATGCACATATGCAGATACACATATGCACACACA GATACACACATGCACACACAGATATATGCACACACAGATACACACATCAC ATGCACATGCACACAGATACACACATGTGCACATGGATACACACATATGC AGATACACATGCGCACACACAGATACCACATGCACACAGATACATGCACA CACACAGCTACATGCACATACACAGATACACACATTCACACACAGACACA TACATGCACACAGTGATACACACATGCACACATACAGATATACACATGCA CATGCACAGAGATACACACATGCACACAGATACACACATGCACACACAGA GATACACACATGCACACACACATACACACATGCACATGCCTACAGGTACA CACATGCACACA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGC others(831): Show CTGTGTGCATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTGTGT GCATGTGTGTATCTCTGTGTGTGCATGTGTGTATCTGTGTGCATGTGTGT ATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGCAT GTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTGCG CATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTGTG TGCATGTGCATGTGATGTGTGTATCTGTGTGTGCATATATCTGTGTGTGC ATGTGTGTATCTGTGTGTGCATGTGTATCTGCATATGTGCATGTATCTAT GTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCATGTGC ATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATCTGGG TGTGTGCATGTGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTATCTG TGTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTGTGCA TGTGCGTATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTGT ATCTGTGTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTGTGTG TATTCATGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTGTGCA TGTATCTGTGTGTGCACATGTGTGTATCTGTGTTTGCATGTGTGTATCTG TGTGTGTGCATGTGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0004 a0001c0002t0021g0004	1	34	0.0294	838	c.55+ others(857): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGTGC ACACACAGATACATGCACACACAGATATGTGTACACACAGATACACACAT GCACACATGAATACACACACGCAGATACATGCACACACACAGATACCACG TGCACACACAGATACACACATGCACACACACAGATACACACATGCACAAC ACAGATACGCACATGCACACACAGATATACACATGCACACACACAGATAC ACACATGCACACACAGATACACATATGCACACACAGATACACACATGCAC ACACATGCACACACCCAGATACCACGTGCACATGCACACAGATACACACA TGCACAGATACATGCACATGCACAGATACATGCACATGCACACACAGACA CACACATGCACACATAGATACATGCACATATGCAGATACACATGCACACA CAGATACACACATGCACACACAGATATATGCACACACAGATACACACATC ACATGCACATGCACACAGATACACACATGTGCACATGGATACACACATAT GCAGATACACATGCGCACACACAGATACCACATGCACACAGATACATGCA CACACACAGCTACATGCACATACACAGATACACACATTCACACACAGACA TACATGCACACAGTGATACACACATGCACACATACAGATATACACATGCA CATGCACACAGATACACACATGCACACAGATACACACATGCACACACAGA GATACACACATGCACACACACATACACACATGCACATGCCTACAGGTACA CACATGCACACA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGC others(831): Show CTGTGTGCATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTGTGT GCATGTGTGTATCTCTGTGTGTGCATGTGTGTATCTGTGTGCATGTGTGT ATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGC ATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTG CGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTG TGTGCATGTGCATGTGATGTGTGTATCTGTGTGTGCATATATCTGTGTGT GCATGTGTGTATCTGTGTGTGCATGTGTATCTGCATATGTGCATGTATCT ATGTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGCATGTGC ATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATCTGGG TGTGTGCATGTGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTATCTG TGTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTGTGCA TGTGCGTATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTGT ATCTGTGTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTGTGTG TATTCATGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTGTGCA TGTATCTGTGTGTGCACATGTGTGTATCTGTGTTTGCATGTGTGTATCTG TGTGTGTGCATGTGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0057 a0001c0002t0008g0057	1	34	0.0294	838	c.55+ others(857): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGTGC ACACACAGATACATGCACACACAGATATGTGTACACACAGATACACACAT GCACACATGAATACACACACGCAGATACATGCACACACACAGATACCACG TGCACACACAGATACACACATGCACACACACAGATACACACATGCACAAC ACAGATACGCACATGCACACACAGATATACACATGCACACACACAGATAC ACACATGCACACACAGATACACATATGCACACACAGATACACACATGCAC ACACATGCACACACCCAGATACCACGTGCACATGCACACAGATACACACA TGCACAGATACATGCACATGCAGATACATGCACATGCACACACAGACACA CACATGCACACATAGATACATGCACATATGCAGATACACATGCACACACA GATACACACATGCACACACAGATATATGCACACACAGATACACACATCAC ATGCACATGCACACAGATACACACATGTGCACATGGATACACACATATGC AGATACACATGCGCACACACAGATACCACATGCACACAGATACATGCACA CACACAGCTACATGCACATACACAGATACACACATTCACACACAGACACA TACATGCACACAGTGATACACACATGCACACATACAGATATACACATGCA CATGCACACAGATACACACATGCACACAGATACACACATGCACACACAGA GATACACACATGCACACACACATACACACATGCACATGCCTACAGGTACA CACATGCACACA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(831): Show TATATATCCATATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATCCATATATATA TATATCCATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATCCA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATCCATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0260 a0002c0002t0002g0260	1	207	0.0048	838	c.126 others(855): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATGGATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATGGATATATATATATATGGATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT ATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(831): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATATCCATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATCCATATATATATATATCCATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATCCATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATC CATATATATATATATCCATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0254 a0002c0002t0002g0254	1	207	0.0048	838	c.126 others(855): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATGGATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATGGATATATATATATATGGAT ATATATATGGATATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT ATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LORICRIN_chr1_153254687_153267124	153256713	A A	AGTCACAT others(831): Show AGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACT ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATAT GTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATAT ATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTAT AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATATAGTTATATATGTATATAAAA CTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACT ATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTAAAACTATAGTTATATATGTATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01099.hp1 others(15): Show HG00099.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG02145.hp1 HG02622.hp1 HG02809.hp2 HG02965.hp2 HG03831.hp1 NA18951.hp2 NA19001.hp2 NA19003.hp2 NA19060.hp2 NA19074.hp1 NA19083.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	18	391	0.0460	838	c.-30 others(849): Show c.-3044_-3043insGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATA AAACTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATG TATATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATA TGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTA AAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2973		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256763	A A	ATATATAG others(831): Show ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATAGTCACATATGTAT ATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATAT GTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATAT GTATATAAAACTATATACAGTCATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTC ATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGT ATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTAT GTATGTAAAACTATATACAGTTATGTATGTATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	409	0.0024	838	c.-29 others(849): Show c.-2994_-2993insTATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAAC TATATATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAAA ACTATAGTCATATATGTATATAAAACTATATACAGTCATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTAAAAC TATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTA TATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTA AAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2923		chr1	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(831): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGAAGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGG AGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGG GAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGG GAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGG AGGAAGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGAGTGAG GAGGGGAAGGATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAGGAAGA GAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAGGAGAA GGGTGAGGACAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAGAGAA GAGAGAGAAGGAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGGGAGA GAAGGGAGAGGAGGAACAGGAGGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	8	0.1250	838	c.641 others(853): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCC CTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCC CTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACT CCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(831): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGG GAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCG GGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGG GGGAAGGGGGGAAGGGGAAAGGGGTGGGGGAAGGGGGGAAGGGGAAAGGG GTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGGGGAGGGGGAG GGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAA GGGAGGGGGAGGGAGGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAG GGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGG GGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGG AGGGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGG GAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0016 a0005c0006t0016	a0005c0006t0016g0124 a0005c0006t0016g0124	1	8	0.1250	838	c.250 others(853): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCCTCCCT CCCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTC CCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCCTCCCCTC ACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCT TCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCACCCCTTTCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCC CCCTTCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCC CTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTC CTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT TCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(831): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT ATAAAATCTTATTTTATATATATTTTATATATATTTTATATATATATAAA ATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATATTTTA TATATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTA TTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTA TATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTT TATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAAAT AAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATAT TTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAA ATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATAT ATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATAT AAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGA TTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATTTTA TATATATATAAAATCTTATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	210	0.0048	838	c.-5+ others(853): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATA TAAAATCTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATCTTATTTTATATATATATAAAATATATATA AAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATAT ATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATATA TAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTAT ATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATA TATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATAAAATATATATAAAGTAAGATTTT ATATATATATAAAATATATATAAAGTAAGATTTCATATATATAAAATATA AAGTAAGATTTTATATATATATAAAATATATATAAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAAAAAA TATATATCAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MXRA8_chr1_1347691_1363555	1351426	G G	GGAGGGGG others(831): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGGAGTGAGGAGGGGGC CTGGACCGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCGGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCGGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCGGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCGGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGG CGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCGGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCGGGAGCGACGGGGGGAGTG AGGAGGGGGCCTGGACCGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGC CTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGG CGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCGGGAGCGAC GGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGGTGGGGGGAGTG AGGAGGGGGCCTGGACGGGGCTGGAGCGGTGGGGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	312	0.0032	838	c.21 others(849): Show c.2177_*2178insACTCTCCCCACCGCTCCAGCCCCGTCCAGGCCCC CTCCTCACTCCCCCCACCGCTCCAGCCCCGTCCAGGCCCCCTCCTCACTC CCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCCG TCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCGGTCCAGGCCCC CTCCTCACTCCCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTC CCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCCGCCCGGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCCG TCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCCGTCCAGGCCCC CTCCTCACTCCCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTC CCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCCG TCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCCGTCCAGGCCCC CTCCTCACTCCCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTC CCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCGG TCCAGGCCCCCTCCTCACTCCCCCCCGTCGCTCCTGCCCGGTCCAGGCCC CCTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1264		chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCCCTCC others(831): Show TCCCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCCCTCCCACCCTCCCCCCCTCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCC TTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0058 a0001c0001t0013g0058	1	206	0.0049	838	c.433 others(855): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGG GAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGG GGAGGGGAAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGGGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	948807	G G	GGCCTCCT others(831): Show GGCCTCCTCCTCTCTCCCCGCGGCCGCCTCCTCTCCCCCCGGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCGCCCCCCTGCCTCCTCGCTCTCCCCCTGC CTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCGCCTCTCCC CCCTGCCTCCTCCTCTCCCCCCCTGCCTCCGCCTCTCCCCCTGCCTCCTC CTCTCCCCGCGGCCTCCTCCTCTCCCCCCCGGCCTCCTCCTCTCCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCGCCCCGCGGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCGGCCTGCCTCCTCCTCTCCCCGCGGCC TCCTCCGTCGCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCCGGCCTCCGCCTCTCCCCCCTGCCTCCGCCTCTCCCCCCTGC CTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCCTGCCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTCTC CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	238	0.0042	838	c.360 others(857): Show c.360+30511_360+30512insAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAG GAGGAGGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG GGGAGAGGAGGAGGCAGGGGGGAGAGGCGGAGGCAGGGGGGAGAGGCGGA GGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGCGACGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGCCGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGCGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGGAGAGGAGGAG GCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGCGGAGGCAGGGGGGGAGA GGAGGAGGCAGGGGGGAGAGGCGGAGGCAGGGGGAGAGGAGGAGGCCACG GGGAGAGGAGGAGGCAGGGGGAGAGCGAGGAGGCAGGGGGGCGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGCGGCCGCGGGGAG AGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952442	G G	GGTCAGAG others(831): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTG GAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCA GACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGG GGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGG ACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCC GGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGAC CAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCT GGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCAC ACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTA CCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTT GGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTC AGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTG GGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGG ACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCC GGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	135	0.0074	838	c.360 others(857): Show c.360+26876_360+26877insTCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTCTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTA CCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCA GCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCG GGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCA ACCTTGGTCTGTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGT GTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCC AGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTT GGTCTCTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(831): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGCATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTATATATGCATATATGCATATGCATATGTGTGTATATATACATAT ATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATAT GTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACAT ATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCAT ATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATACATGTATATGCATATGTGTGTATATATACATATACATGTATAT GCATGTGTGTATATATACATATACATGTATATGCATGTGTGTATATATAC ATATACATGTATATGCATATGTGTGTATATATACATATACATGTATATGC ATATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATAT ACACATATACATGTATATGCATATGTGTGTATATATACACATATACATGT ATATGCATATGTGTGTATACATATACATATATATGCATATATGTGTATAC ATATACATATATATGCATATATGTGTATATATACACATATATATGTGTGT GTATATATATGTGTGTGTATATATACACATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG00438.hp1 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	2	136	0.0147	838	c.31 others(849): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGCATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTATATATGCATATATGCATATGCATATGTG TGTATATATACATATATATGCATATGCATATGTGTGTATATATACATATA TATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATATG TGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACATA TATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATA TGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACA TATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATATA CATATACATGTATATGCATGTGTGTATATATACATATACATGTATATGCA TGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATATACA TATACATGTATATGCATATGTGTGTATATATACATATACATGTATATGCA TATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTATATA TACACATATACATGTATATGCATATGTGTGTATACATATACATATATATG CATATATGTGTATACATATACATATATATGCATATATGTGTATATATACA CATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATG TGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OR11H4_chr14_20234286_20249349	20237753	A A	ACTATAGT others(831): Show ACTATAGTATATATAGTATATATACTATATGTAATATAGTATATATAGTA TATATATATACTACTATATATATAATAGTATATATAGGATATATATATAC TACTATATATAGTATATATAGTAGATATACTATATATACTATATAGTATA TATAGTATATCTACTATATAGTACATATAGTATATACGGTATATCTACTA TATAGTATATATACTATATCTACTATATAGTATATATAGTATATATACTA TATAGTATATAGTATATATACTATATATACTATAGAGTATATATAGTATA TATAGTATATATACTATATACAGTATATATAGTATATATAGTATATATAC TATATATAGTATATATAGTATATATACTATATACAGTATATATAGTATAT ATAGTATATACAGTATATATAGTATATATAGTATATACAGTATATATAGT ATATATAGTATATACAGTATATATAGTATATATAGTATATATAGTATATA TACTATATATAGTATATATAGTATATATACTATATATACTATATATAGTA TATATACTATATATACTATATATAGTATATATAGTATATATAGTATATAT ACTCTATAGTATATATAGTATATATAGTATATATAGTATATATACTCTAT AGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATAT ATAGTATATATAGTATATGTACTATATAGTACATATACTATATATAGTAT ATGTACTATATAGTACATATAGTATATATACTATATATACTATATATATA GTGTATATACTATATATACTATATATATAGTGTATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03486.hp1 HG02258.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0242 a0001c0001t0002g0239 a0001c0001t0001g0242 a0001c0001t0002g0239	2	244	0.0082	838	c.-15 others(849): Show c.-1590_-1589insCTATAGTATATATAGTATATATACTATATGTAAT ATAGTATATATAGTATATATATATACTACTATATATATAATAGTATATAT AGGATATATATATACTACTATATATAGTATATATAGTAGATATACTATAT ATACTATATAGTATATATAGTATATCTACTATATAGTACATATAGTATAT ACGGTATATCTACTATATAGTATATATACTATATCTACTATATAGTATAT ATAGTATATATACTATATAGTATATAGTATATATACTATATATACTATAG AGTATATATAGTATATATAGTATATATACTATATACAGTATATATAGTAT ATATAGTATATATACTATATATAGTATATATAGTATATATACTATATACA GTATATATAGTATATATAGTATATACAGTATATATAGTATATATAGTATA TACAGTATATATAGTATATATAGTATATACAGTATATATAGTATATATAG TATATATAGTATATATACTATATATAGTATATATAGTATATATACTATAT ATACTATATATAGTATATATACTATATATACTATATATAGTATATATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATAGTATATATAGTATATGTACTATATAGTACATA TACTATATATAGTATATGTACTATATAGTACATATAGTATATATACTATA TATACTATATATATAGTGTATATACTATATATACTATATATATAGTGTAT ATAG	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1532		chr14	TogoVar
PJA2_chr5_109329722_109414974	109353988	T T	TGTCTATG others(831): Show TGTCTATGATATCTAGAGATATCTATAGATTAGATATCTATATCTAGAGA TATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGAT ATCTATATCAAGAGATGTCTATAGATTAGATATCTATATCAAGAGATGTC TATAGATTAGATATCTATGATATCTAGAGATGTCTATAGAGTAGATATCT ATGATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATA TCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATAT CTATGATGTCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGA TATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGAT ATCTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGA GATATCTATAGATTAGATATCTATGCTATCTAGAGATATCTATAGATTAG ATATCTCTGATATCTAGAGATATCTATAGATTGGATATCTATATCTAGAG ATATCTATAGATTGGATATCTATGATATCTAGAGATATCTATAGATTAGA TATCTATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAG AGATATCTATAGATTAGATAGATATCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGA TATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGAT ATCTATGATATCTAGAGATATCTATAGATTAGATATCTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0118 a0003c0003t0002g0118	1	264	0.0038	838	c.176 others(857): Show c.1764+1926_1764+1927insTAGATATCTAATCTATAGATATCTCT AGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATC TAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCTATCTAA TCTATAGATATCTCTAGATATCATAGACATCTAATCTATAGATATCTCTA GATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCC AATCTATAGATATCTCTAGATATAGATATCCAATCTATAGATATCTCTAG ATATCAGAGATATCTAATCTATAGATATCTCTAGATAGCATAGATATCTA ATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCT AGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATC TAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCT CTAGACATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATA TCTAATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGAAAT CTCTAGACATCATAGATATCTACTCTATAGACATCTCTAGATATCATAGA TATCTAATCTATAGACATCTCTTGATATAGATATCTAATCTATAGACATC TCTTGATATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATC TAATCTATAGATATCTCTAGATATAGATATCTAATCTATAGATATCTCTA GATATCATAGAC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PPP1R14C_chr6_150138044_150255392	150167962	C C	CCTCTTTC others(831): Show CCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCC TCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCT CCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCT CCCCTCTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCT CTTTCTCTCTCCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	310	0.0032	838	c.306 others(857): Show c.306+24465_306+24466insTCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTCTCTCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTC TCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCTCCTTCTTCTTC CCTCTTTCTCCCCTTCTCTCCTCCCCTCTTCTCTCCTTCTTCTTCCCTCT TTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCTCCCCCTTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB11FIP3_chr16_420649_528011	504279	C C	CTCCCATC others(831): Show CTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGT GCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACC TCTTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTAC CCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTCCTATACCCCCTCACCTCCTCCTATACCCCCTCACCTCCT CCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTC ACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTC CTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCT GTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0172 a0001c0002t0002g0172	1	147	0.0068	838	c.139 others(857): Show c.1395+1182_1395+1183insTCCCATCTCCTCCTGTACCCCCTCAC CTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACC CCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCA CCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCAC CTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTAC CACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTG TACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCACC TCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTAC CCCCTCACCTCCTTGTGCACCCCCTCACCTCCTCCTATACCCCCTCACCT CCTCCTATACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCAT CTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACC CCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC TCACCTCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(831): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATAAT ATGTAATACACAATATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CATTATACATTATTATATAAGTATATGTAATACATTATACATTATTATAT AAGTATATGTAATATATATTATACATTATTATATAAGTATATGTAATATA TATTATACATTATTATATAAGCATATATAATACATAATA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0046 a0001c0001t0076g0046	1	19	0.0526	838	c.24+ others(855): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATAATATGTAATACACAATATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACATTATACATTATTATATAAGTATATGTA ATACATTATACATTATTATATAAGTATATGTAATATATATTATACATTAT TATATAAGTATATGTAATATATATTATACATTATTATATAAGCATATATA ATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(831): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATAATATGTAATACACAATATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ATTATACATTATTATATAAGTATATGTAATACATTATACATTATTATATA AGTATATGTAATATATATTATACATTATTATATAAGTATATGTAATATAT ATTATACATTATTATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0049 a0001c0001t0028g0049	1	19	0.0526	838	c.24+ others(855): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATAATA TGTAATACACAATATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACATTATACATTATTATATAAGTATATGTAA TACATTATACATTATTATATAAGTATATGTAATATATATTATACATTATT ATATAAGTATATGTAATATATATTATACATTATTATATAAGCATATAACA ATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(831): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATATG TAATACACAATATATTATATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTA TACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAG TATATGTAATATATATTATACATTATTATATAAGCATATAATATATAATA CATAATACATTATATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp2 NA20129.hp2 HG00597.hp2 HG00639.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0054 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0054	3	21	0.1429	838	c.24+ others(855): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATATGTAATACACAATATATTATATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACATTATACATTATTAT ATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATA TATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTAT ATAAGCATATAATATATAATACATAATACATTATATATAAGCATATAACA ATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(831): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACATTA TACATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTA TATGTAATATATATTATACATTATTATATAAGTATATGTAATATATATTA TACATTATTATATAAGCATATAATATATAATACATAATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02451.hp1 others(4): Show HG01884.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02965.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0021 others(2): Show a0001c0001t0006 a0001c0001t0016 a0001c0001t0021 a0001c0001t0044 a0001c0001t0072	a0001c0001t0006g0041 a0001c0001t0016g0039 a0001c0001t0016g0040 others(4): Show a0001c0001t0006g0041 a0001c0001t0016g0039 a0001c0001t0016g0040 a0001c0001t0021g0059 a0001c0001t0021g0060 a0001c0001t0044g0172 a0001c0001t0072g0038	7	25	0.2800	838	c.24+ others(855): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACATTATACATTATTATATAAGTATATGTAATACA TTATACATTATTATATAAGTATATGTAATATATATTATACATTATTATAT AAGTATATGTAATATATATTATACATTATTATATAAGCATATAATATATA ATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RGS12_chr4_3288021_3444913	3341567	G G	GTGGGGGG others(831): Show GTGGGGGGAGGGAGGGTGGAGAGATGGGGGTATGGCGGGGAGGGGACAAG GGTGGAGAGATGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGT GGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTG GAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGG GTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAG GGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGG GGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGAT GGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGAGGGA GGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGTTTGGAGAGATGAGGGT GTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGA GAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGA GGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATG GGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGT TTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGG GGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGA GATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0016 a0004c0008t0001g0016	1	310	0.0032	838	c.188 others(857): Show c.1882-1366_1882-1365insGGGAGGGAGGGTGGAGAGATGGGGGT ATGGCGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGAG GGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTG TGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAG GGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGAG GGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGT GGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGG GGAGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAG ATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGG AGTTTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTG TGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGG AGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGAGG GGACAAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGG GGTGTGGGCGGAGGGGAGTTTGGAGAGATGAGGGTGTGGGGAGGGGACAA GGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGG GGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGA TGGGGGTATGGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(831): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	27	0.0370	838	c.-75 others(857): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAACTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATA TATATTTATCTATAAACTAAATATATAAATATATATTTATAAACTAAATA TATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAACTA AATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAA ACTAAATATGTAAATATTTATAAACTAAATATGTAAATATGTATTTATAA ACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTATAA ACTAAATAAATATATATTTATAAACTAAATATATAAATATATATTTATAA ACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATATTT ATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATAT GTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAAT ATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATAT AAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAAT ATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	305059	A A	AGAGGGGA others(831): Show AGAGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGA CAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACA GGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGG CGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCG AGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGA CAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACA GGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCG GGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGG GGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGAC AGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	76	0.0132	838	c.351 others(857): Show c.351+14360_351+14361insCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCC CCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTC TCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCG CCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCC CCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCC TCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCG CCCTGTCCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SAMD11_chr1_918923_949574	934741	A A	AGGCGGCT others(831): Show AGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGG GGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCT CCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18969.hp1 NA18948.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	2	383	0.0052	838	c.843 others(855): Show c.843-1024_843-1023insCCGTTACAGGTGGGCGGGGGGGGCTGCT CCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTA CAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(831): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGACGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAGGAAC AGGTGCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGAC AGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAA CAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGA GGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0183 a0001c0013t0001g0183	1	2	0.5000	838	c.-12 others(857): Show c.-127+9348_-127+9349insTCCTCCTGTGCCTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTCCTCCTGTGCCT CCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCT GTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCC TCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAG TGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCT CCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCA CCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT GTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCGTCCTCCTGTTCT TCGTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCGGCATCT GGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTCCTCCTCCTCCTCCTC CTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(831): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAG GAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGGCAG TGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGC AGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGA GGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0188 a0001c0010t0001g0188	1	2	0.5000	838	c.-12 others(857): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCC TGCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGC ACCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTC CTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCT CCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTA GCACCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT GTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCGTCCTCCTGTTCT TCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCGGCATCT GGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTCCTCCTCCTCCTCCTC CTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1288569	C C	CCGTGTCT others(831): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGTTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGTTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGTTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGT TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	260	0.0038	838	c.166 others(855): Show c.1662+533_1662+534insGTGTCTCTGCCCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGTTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGTTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGTTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGTTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGAGTCT CTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289615	T T	TCCCCCGT others(831): Show TCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	239	0.0042	838	c.166 others(855): Show c.1663-653_1663-652insCCGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(831): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGT TTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATAT ATATACATATGTTTTATATGTATATATACATATAAAATATATATACATAT GTTTTATATGTATATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAATATATATACATATAAAATATATACATATA AAATATATATGTTTTATATGTATATATACATATAAAATATATATACATAT GTTTTATATGTATATATATACATATAAAACATATATACATATGTTTTATA TGTATATATACATATAAAACATATATATATGTTTTATATGTATATATATA CATATAAATATATATACATATGTTTTATATGTGTATATATACATAGAAAA TATATATAATATATATACATATGTTTTATATGTATATATATACATAGAAA ATATATATACATATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	158	0.0063	838	c.626 others(855): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTA TATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATA TACACATATAAAATATATATACATATGTTTTATATGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTT TATATGTATATATATACATATAAAATATATATACATATGTTTTATATGTA TATATATACATATAAAATATATATACATATAAAATATATACATATAAAAT ATATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTT TATATGTATATATATACATATAAAACATATATACATATGTTTTATATGTA TATATACATATAAAACATATATATATGTTTTATATGTATATATATACATA TAAATATATATACATATGTTTTATATGTGTATATATACATAGAAAATATA TATAATATATATACATATGTTTTATATGTATATATATACATAGAAAATAT ATATACATATGTTTTATATGTATATATATACATAGAAAATATATATACAT ATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC6A3_chr5_1387794_1450440	1414431	A A	ACTGGGTG others(831): Show ACTGGGTGGGGGGCCGGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGC AGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGG GGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGG GCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGA AGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTG GGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAG GGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG GAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGG TGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG AGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCG GGGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	315	0.0032	838	c.115 others(855): Show c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGT GCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCC CTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCG GCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCC AGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC GCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTC CCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCC CTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCC TCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT CTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCC CCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCC CCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCCGGCC CCCCACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168614052	G G	GCACAGGG others(831): Show GCACAGGGCCTCTTCATACCTACAGCCAGCACATGGAGCCTCTTCACACC TACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCC TCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACGGCCAGCAC ATGGAGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATACCTACA GCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATA CCTACAGCCAGCACAGGACCTCTTCACACCTACAGCCAGCACAGGGGCCC TCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCAC AGGGGGCCTCTTCACACCTACAGCCATCACAGGGCCTCTTCACACCTACA GCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCA CACCTACAGCCAGCACAGGGGGCCTCTTCATACCTACAGCCAGCACAGGG CCTCTTCATACTTACAGCTTGCACAGGGCCTCTTTACATCTACAGCCAGC ACAGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCACACCTACA GCCAGCACATGGAGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCA CACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGG CCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCA TCACAGGGCCTCTTCACACCTAAAGCCAGCACAGGGGGCCTCTTCACATC TACAGCCAGCACAGGGTCTCTTCATACTTACAGCCGGCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	135	0.0074	838	c.907 others(855): Show c.907+5815_907+5816insCAGGGCCTCTTCATACCTACAGCCAGCA CATGGAGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCT ACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCT TCACACCTACGGCCAGCACATGGAGCCTCTTCACACCTACAGCCAGCACA GGGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCC AGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGACCTCTTCACACCT ACAGCCAGCACAGGGGCCCTCTTCACACCTACAGCCAGCACAGGGCCTCT TCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCATCACA GGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCC AGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCAT ACCTACAGCCAGCACAGGGCCTCTTCATACTTACAGCTTGCACAGGGCCT CTTTACATCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACA GGGCCTCTTCACACCTACAGCCAGCACATGGAGCCTCTTCACACCTACAG CCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCAC ACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGC CTCTTCACACCTACAGCCATCACAGGGCCTCTTCACACCTAAAGCCAGCA CAGGGGGCCTCTTCACATCTACAGCCAGCACAGGGTCTCTTCATACTTAC AGCCGGCACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(831): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGATGGTAGTATTCC CGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTA TTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACAGT AGTACTCCCAGTGATGGTGTCATGGTGGGGATGGTGATGGTGGTGGTGAT GGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTG GTGGTGACGGTAGTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGTGAT GGTGGTGGTGATGGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGATGG TGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTATTC CCAGTGATAGTGTCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGTGGT ATTCCTGGTGATGGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGGTAG TACCCCTGGTGGTGGTGATTATGAAAATGGCTATGTCAGTGATGCTGATT GTGATGGTGACTGAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTGATG GCTATGGTGGTGATGGTGGAGATAATGGAGATGGTGGTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	121	0.0083	838	c.-78 others(857): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTG ATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGG GATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGG TGGGGATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCA GTGGTGGGGATGGTGATGGTGGTGGTGACGGTAGTACTCCTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCAGTGA TGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTG GGGATGGTGATGGTGGTATTCCCAGTGATAGTGTCAGTGGTGGGGATGGT GATGGTGGTGGCGATGGTGGTATTCCTGGTGATGGTGTCAGTGGTGGGGA GAGTGGTGGTGATGATGGTAGTACCCCTGGTGGTGGTGATTATGAAAATG GCTATGTCAGTGATGCTGATTGTGATGGTGACTGAAGTTCTGGAGGTGAT GGGGTAATGAAGGTAGTGATGGCTATGGTGGTGATGGTGGAGATAATGGA GATGGTGGTCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMEM255B_chr13_113754226_113821995	113816252	G G	GGGGAGAC others(831): Show GGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTC ACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGGTTCTTT TCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGTATGGGGAGAGGTGCAG TCACTGGTCAGGGACACGGTTTCTTTTCGGGGAGGCAAGCGTGTTCGCAG CGTGTTCTGTATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGAGTTCT TTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGTATGGGGAGAGGTGC AGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGC AGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTT CTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGT GCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTC GCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGG TTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAG GTGCAGTCACTGGTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGT TCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACG GGTTCTTTTCGGGGAGGCAAGCATGTTCTAAGCGTGTTCTGGATGGGGAG GGAGGTGCAGTCACTGGTCAGGGACATGGTTTCTTTTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0114 a0001c0002t0050g0114	1	178	0.0056	838	c.43 others(849): Show c.4354_*4355insACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAG AGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGT GTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACA CGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGTATGGGG AGAGGTGCAGTCACTGGTCAGGGACACGGTTTCTTTTCGGGGAGGCAAGC GTGTTCGCAGCGTGTTCTGTATGGGGAGAGGTGCAGTCACTGGTCAGGGA CACGAGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGTATGG GGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAA GCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGG GACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGAT GGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGAC AAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCA GGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGG ATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGGTTCTTTTCGGGGAG ACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGT CAGGGACACGGGTTCTTTTCGGGGAGGCAAGCATGTTCTAAGCGTGTTCT GGATGGGGAGGGAGGTGCAGTCACTGGTCAGGGACATGGTTTCTTTTCAG GGAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4355	INFO_REALIGN_3_PRIME	chr13	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(831): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCGGAACCCAGAACAGTCTTCATTCGCGTATCAGGAAA CAAGATTTAGGGACAGCTGATGTTTCTCTTTATTCTTTTTCTGAGACCCA CGTGCCACTTTCCTGCAGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGG GGCTGCAGACCACAGAACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATC AAAGCCATTCCCAGTCAAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCAC CGAGGAGGTGCTGCTGAGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGAT GGCCTGGAGTGAAATGCCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCT GGGGGGGATTGCCCTGGGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGG GGAGGGGGATTCCCCGGGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0250 a0001c0001t0004g0250	1	97	0.0103	838	c.-5+ others(853): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCGACTG TTCTGGGTTCCATGTTTCTCCTTTAACTGTGCAAGCACAACTGAATTGCG AATTGTAATTTAATGTCTAAATGTCCAAATGCATGACTTCTTTTGGGGAA GAAATATGAAAAATCTTTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGT CTTTGCATCATACCAACTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCG GGCTTCTCCCCTCCGTCGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCA GTCAGGCTGACGTCATTTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTC TTAACCTTTCTTTAAGCCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCG TTCAGCGCGGCTCAGGGAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGAC TCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(831): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATATACTATATCATCATATGATA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0123 a0001c0001t0007g0123	1	125	0.0080	838	c.41- others(855): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATAT ACTATATCATCATATGATATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL8_chr22_50013575_50063298	50028600	C C	CCCCCATC others(831): Show CCCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCC ATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCCATCAC ACCGTCCTGAAGACCCACACATACCCTCGTAAAGACCCCCATCACACCGT CCTGAAGACCCACACATACCCTCGTAAAGACCCCCATCACACCGTCCTGA AGACCCACACATACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACC CACACATACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACA TACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACATACCCT CGTAAAGACCCCCATCACACCGTCCTGAAGACCCACACATACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATA CCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCC TGAAGACCCCCACATACCCTCGTGAAGATCCCCATCACACCATCCTAAAG ACCCCCACACACACTCGTAGAGACCCCCATCACACCATCCTAAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCC ATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0200 a0005c0005t0002g0200	1	216	0.0046	838	c.225 others(857): Show c.2251+1829_2251+1830insTCTTTACGAGGGTGTGTGGGGTCTTC AGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGG TGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGGGTGTGTGGGGTCTTTAGGATGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTTAGGATGGTGTGATGGGGGTCTCTACGAG TGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGATCTTCACGAGGGTAT GTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGG GTCTTTAGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGG TGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGACGGTGTGAT GGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGT CTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTAC GAGGGTATGTGTGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGG TATGTGTGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTATGT GTGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTATGTGTGGG TCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTC AGGACGGTGTGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGAC GGTGTGATGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
UNC13B_chr9_35157009_35410335	35372601	C C	CCCCTGTG others(831): Show CCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAG CAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACAT GGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACT TAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCT AGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATAC ATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAG ACTTAACTCTCTGGGCTTGGCAGATACATGGGCCCTGTGCAAGAGTGTGG CTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGAT ACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCA GACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTG TGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCA GATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTC TCAGACTTAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAG TGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGG CAGATACATGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGC TCTCAGACTTAACTCTCTGTGCTTGGCAGATACATGGGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0173 a0004c0005t0001g0173	1	222	0.0045	838	c.954 others(857): Show c.9540+2285_9541-1609dupCTGTGCAAGAGTGTGGCTAGCAAGGC AGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGCCC CTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTC TCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAG GCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGG CCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGCCCTGTGCAAGAGTGTGGCTAGCA AGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATACATGG GGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTA ACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTA GCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACA TGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGAC TTAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGC TAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATA CATGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAG ACTTAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTG GCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGA TACATGGGGCCC	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UROS_chr10_125783586_125828258	125824766	G G	GCCTCTGC others(831): Show GCCTCTGCTTAGATTGCTGCATTGGCTTTCTAGTTCATTTACAAGAAAAT CAAGAGTCTTCACAATTGAGGGACGGAAAGGCAGCCTAGATGGCTGGATC AGAATAAGGAAGAGAGAGTGATAGGAAATAAAATCAGAGAGGTAATCATG AGTCATGATGAGCATGGAGGGGAGCATGGAGAGAAGCATGGATGCAGGAT TAGAGGTGACACCATGGTGTGGGTATGTGATCAATCTTCCTTCCCTTACA AATTTTACTTTGGCTCTATGCCTTGAATGCCATCTCACCATTTTTCACTT AGAACTTTGACTGGCTCTTTTATTACTTTTGGGTTATAGAAATCAATGCT GCTTGTGTTAACATGGGAAATCTATCACACCACCACAGTCTTAATTCTAA ATCACCTGGGAATGAGGGACCCTCTGCTTAGATTGCTGCATTGGCTTTCT AGTTCATTTACAAGAAAATCAAGAGTCTTCACAATTGAGGGACGGAAAGG CAGCCTAGATGGCTGGATCAGAATAAGGAAGAGAGAGTGATAGGAAATAA AATCAGAGAGGTAATCATGAGTCATGATGAGCATGGAGGGGAGCATGGAG AGAAGCATGGATGCAGGATTAGAGGTGACACCATGGTGTGGGTATGTGAT CAATCTTCCTTCCCTTACAAATTTTACTTTGGCTCTATGCCTTGAATGCC ATCTCACCATTTTTCACTTAGAACTTTGACTGGCTCTTTTATTACTTTTG GGTTATAGAAATCAATGCTGCTTGTGTTAACATGGGAAATCTATCACACC ACCACAGTCTTAATTCTAAATCACCTGGGAATGAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02630.hp1 others(4): Show HG02145.hp1 HG02615.hp1 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0061 a0001c0001t0002g0063 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065	7	297	0.0236	838	c.-17 others(849): Show c.-1765_-1764insGTCCCTCATTCCCAGGTGATTTAGAATTAAGACT GTGGTGGTGTGATAGATTTCCCATGTTAACACAAGCAGCATTGATTTCTA TAACCCAAAAGTAATAAAAGAGCCAGTCAAAGTTCTAAGTGAAAAATGGT GAGATGGCATTCAAGGCATAGAGCCAAAGTAAAATTTGTAAGGGAAGGAA GATTGATCACATACCCACACCATGGTGTCACCTCTAATCCTGCATCCATG CTTCTCTCCATGCTCCCCTCCATGCTCATCATGACTCATGATTACCTCTC TGATTTTATTTCCTATCACTCTCTCTTCCTTATTCTGATCCAGCCATCTA GGCTGCCTTTCCGTCCCTCAATTGTGAAGACTCTTGATTTTCTTGTAAAT GAACTAGAAAGCCAATGCAGCAATCTAAGCAGAGGGTCCCTCATTCCCAG GTGATTTAGAATTAAGACTGTGGTGGTGTGATAGATTTCCCATGTTAACA CAAGCAGCATTGATTTCTATAACCCAAAAGTAATAAAAGAGCCAGTCAAA GTTCTAAGTGAAAAATGGTGAGATGGCATTCAAGGCATAGAGCCAAAGTA AAATTTGTAAGGGAAGGAAGATTGATCACATACCCACACCATGGTGTCAC CTCTAATCCTGCATCCATGCTTCTCTCCATGCTCCCCTCCATGCTCATCA TGACTCATGATTACCTCTCTGATTTTATTTCCTATCACTCTCTCTTCCTT ATTCTGATCCAGCCATCTAGGCTGCCTTTCCGTCCCTCAATTGTGAAGAC TCTTGATTTTCTTGTAAATGAACTAGAAAGCCAATGCAGCAATCTAAGCA GAGG	UROS	ENSG00000188690.16	transcript	ENST00000368797.10	protein_coding		1509		chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(832): Show AACCACCCCTCCTAATCCCACCAGACAACCTGCCCGCCGTGAGCACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCATCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0025 a0002c0005t0025	a0002c0005t0025g0258 a0002c0005t0025g0258	1	300	0.0033	839	c.401 others(856): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACAAC CTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCAC CACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGA CCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACGGGCATCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACA GGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTC CCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCA GACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
BAHCC1_chr17_81390457_81471331	81426451	T T	TAGTGGTG others(832): Show TAGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGT GGGTGATGTGGTTGGTGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGAT GTGGTTGGTGGTGATGTGGTTGGTGATGATGTGGTTGGTGGTGATAGTGG TGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGA TAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGG TGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGT GGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGG TGATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGG TTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTG ATGTGGTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGTGATGTGG TTGGTGGTTATGTGGTTGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGT GATAGTGGTGGGTGATGTGCTTGGGGGTGATAGTGGTGGGTGATGTGGTT GGTGTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGA TAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGG TGGTAATGTGGTTGGTGGTGATGTGGTTGGTGTGATGTGGTTGGTGGTTA TGTGGTTGGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTGGTG GGTGATGTGGTTGGTGGTGATGTGGTTGGTGGTGATAGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0050 a0002c0050	a0002c0050t0001 a0002c0050t0001	a0002c0050t0001g0288 a0002c0050t0001g0288	1	227	0.0044	839	c.179 others(854): Show c.179-349_179-348insAGTGGTGGGTGATGTGGTTGGTGGTGATGT GGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGG GGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTGATGATG TGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGG GTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAG TGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGG TGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGT TGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGTGATGTGGTTGGTGGTG ATAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTG GGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTAATGTGGTTGGTGGTGA TGTGGTTGGTGTGATGTGGTTGGTGGTTATGTGGTTGGTGATGTGGTTGG TGGTGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGCTTGGGGGTGAT AGTGGTGGGTGATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGGTGG GTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATAG TGGTGGGTGATGTGGTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGT GTGATGTGGTTGGTGGTTATGTGGTTGGTGATGTGGTTGGTGGTGATGTG GTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATGTGGTTGGTG GTGATAGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27			chr17	TogoVar

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