Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PIEZO1_chr16_88710338_88790220	88777408	A A	AGGGTCCT others(173): Show AGGGTCCTCACTGTCACTGGCCCGCAGACACATTGCGGGGTCCTCACTGT CACTGGCCCGCAGACACATTGCGGGGTCCTCACTGTCACTGGCCCGCAGA CACATTGCGGGGTCCTCACTGTCACTGGCCCGCAGACACATTGCGGGGTC CTCACTGTCACTGGCCCGCAGACACATTGCG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0205 a0001c0008t0002g0205	1	282	0.0036	180	c.64+ others(195): Show c.64+7492_64+7493insCGCAATGTGTCTGCGGGCCAGTGACAGTGA GGACCCCGCAATGTGTCTGCGGGCCAGTGACAGTGAGGACCCCGCAATGT GTCTGCGGGCCAGTGACAGTGAGGACCCCGCAATGTGTCTGCGGGCCAGT GACAGTGAGGACCCCGCAATGTGTCTGCGGGCCAGTGACAGTGAGGACCC		PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	1/50						chr16	TogoVar
PJA2_chr5_109329722_109414974	109409106	T T	TTTAACCT others(173): Show TTTAACCTCACCATTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTATTGATCATTCTTGGGTGT TTCTCACAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAG GTCAGCAGATAAACAAGTGAACAAAGGTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0276	1	346	0.0029	180	c.-88 others(195): Show c.-88+735_-88+736insGAGACCTTTGTTCACTTGTTTATCTGCTGA CCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGA AACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAGAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAATGGTGAGGTTAA		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	1/9						chr5	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCTCCC others(173): Show GCTCTCCCTCTCCGTCTCCCTCTGCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0092 a0002c0092	a0002c0092t0004 a0002c0092t0004	a0002c0092t0004g0002 a0002c0092t0004g0002	1	134	0.0075	180	c.575 others(201): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGCAGAGGGAGACGGAGAG GGAGAG		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66						chr6	TogoVar
PLCXD1_chrX_276381_308356	280844	C C	CCGTGCAG others(173): Show CCGTGCAGGCGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGG GGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGAGG CCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGG GGAAGGGAGGCCGTGCAGGCAGAGGGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0159 a0001c0003t0002g0159	1	176	0.0057	180	c.-86 others(189): Show c.-862_-861insCGTGCAGGCGAGGGGGGTACGTGCAGGGGGCAGCGG AGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCA GGGGGAAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGGG AGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGA		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding					536		chrX	TogoVar
PLEKHN1_chr1_961482_980865	976943	C C	CCCCGGGA others(173): Show CCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCC CCACCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAA CCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCA ACCCCGAGAACCGCCTCCCACGACCCCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00642.hp2 others(28): Show HG00140.hp1 HG00438.hp1 HG00642.hp2 HG00733.hp1 HG01099.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02109.hp1 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp2 HG02738.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG04228.hp2 NA18944.hp1 NA18947.hp1 NA18999.hp1 NA19004.hp1 NA19075.hp1 NA20752.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0006 a0003c0003 a0002c0002 a0002c0006 a0003c0003	a0002c0002t0002 a0002c0002t0007 a0002c0002t0022 others(2): Show a0002c0002t0002 a0002c0002t0007 a0002c0002t0022 a0002c0006t0002 a0003c0003t0002	a0002c0002t0002g0003 a0002c0002t0002g0032 a0002c0002t0002g0047 others(12): Show a0002c0002t0002g0003 a0002c0002t0002g0032 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0086 a0002c0002t0002g0090 a0002c0002t0002g0104 a0002c0002t0002g0136 a0002c0002t0002g0147 a0002c0002t0002g0161 a0002c0002t0007g0003 a0002c0002t0022g0150 a0002c0006t0002g0087 a0003c0003t0002g0007	31	422	0.0735	180	c.23 others(191): Show c.2368_*2369insCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCC GGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTGCCCCCACC GACCAACCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCT CCCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAAT		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1079		chr1	TogoVar
PODNL1_chr19_13926187_13943417	13936945	A A	ACAATCGA others(173): Show ACAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCA CAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACC CCACATGCCACAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCC GCAATCAACCCCACATGCCACAACACCCCCG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	432	0.0023	180	c.226 others(195): Show c.226-486_226-485insCGGGGGTGTTGTGGCATGTGGGGTTGATTG CGGGGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTG GGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTT GTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTG		PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9						chr19	TogoVar
PODNL1_chr19_13926187_13943417	13937005	A A	ACAATCGA others(173): Show ACAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCA CAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACC CCACATGCCACAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCC GCAATCAACCCCACATGCCACAACACCCCCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02698.hp1 HG02735.hp2 others(7): Show HG02602.hp1 HG02698.hp1 HG02735.hp2 HG03225.hp2 HG03688.hp1 HG03710.hp1 NA18944.hp1 NA18983.hp2 NA19012.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0052 a0001c0001t0001g0113 a0001c0001t0001g0116 others(3): Show a0001c0001t0001g0052 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0003g0016 a0001c0001t0003g0139 a0001c0001t0013g0138	10	432	0.0232	180	c.226 others(195): Show c.226-546_226-545insCGGGGGTGTTGTGGCATGTGGGGTTGATTG CGGGGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTG GGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTT GTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTG		PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9						chr19	TogoVar
POLN_chr4_2066918_2247121	2080410	G G	GGGGGTGG others(173): Show GGGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGTGGC AGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCATGGGGCACACTGCCTGG CACTGGTGGCAGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGGGCA CACTGCCTGGCACTGGTGGCAGCAACAGGTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG01243.hp2 others(19): Show HG01167.hp2 HG01243.hp1 HG01243.hp2 HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG03540.hp2 NA18522.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0005c0005 a0006c0006	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0002c0001t0001 a0005c0005t0001 a0006c0006t0001	a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 others(19): Show a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0074 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0008 a0002c0001t0001g0088 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0166 a0002c0001t0001g0180 a0002c0001t0001g0181 a0005c0005t0001g0084 a0005c0005t0001g0176 a0006c0006t0001g0001	22	194	0.1134	180	c.238 others(197): Show c.2387+547_2387+548insTACCTGTTGCTGCCACCAGTGCCAGGCA GTGTGCCCCACGCCCAGCTCTGCCCCCACCCCTACCTGTTGCTGCCACCA GTGCCAGGCAGTGTGCCCCATGCCCAGCTCTGCCCCCACCCCTACCTGTT GCTGCCACCAGTGCCAGGCAGTGTGCCCCACGCCCAGCTCTGCCCCCACC CC		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	23/25						chr4	TogoVar
POLN_chr4_2066918_2247121	2080410	G G	GGGGGTGG others(173): Show GGGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGTGGC AGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGG CACTGGTGGCAGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGGGCA CACTGCCTGGCACTGGTGGCAGCAACAGGTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01891.hp1 HG02055.hp1 others(14): Show HG00597.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02647.hp2 HG02723.hp2 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA19030.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0014 a0004c0007 a0006c0006	a0001c0002t0001 a0001c0003t0003 a0002c0001t0001 others(3): Show a0001c0002t0001 a0001c0003t0003 a0002c0001t0001 a0002c0014t0001 a0004c0007t0001 a0006c0006t0001	a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 others(14): Show a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0003t0003g0011 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0182 a0002c0001t0001g0183 a0002c0014t0001g0169 a0004c0007t0001g0177 a0004c0007t0001g0178 a0004c0007t0001g0179 a0006c0006t0001g0003	17	194	0.0876	180	c.238 others(197): Show c.2387+547_2387+548insTACCTGTTGCTGCCACCAGTGCCAGGCA GTGTGCCCCACGCCCAGCTCTGCCCCCACCCCTACCTGTTGCTGCCACCA GTGCCAGGCAGTGTGCCCCACGCCCAGCTCTGCCCCCACCCCTACCTGTT GCTGCCACCAGTGCCAGGCAGTGTGCCCCACGCCCAGCTCTGCCCCCACC CC		POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	23/25						chr4	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCCCCT others(173): Show TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	312	0.0032	180	c.306 others(199): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT CCTC		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PRAM1_chr19_8485056_8507640	8499451	C C	CGGCTTCT others(173): Show CGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGA GGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCA GGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTT CTTGGGGAGGTCAGTGACCTCAGGCGGCGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18970.hp1 NA19007.hp1 NA19011.hp2 others(1): Show NA18970.hp1 NA19007.hp1 NA19011.hp2 NA19074.hp2	a0017 a0017	a0017c0011 a0017c0011	a0017c0011t0001 a0017c0011t0001	a0017c0011t0001g0019 a0017c0011t0001g0125 a0017c0011t0001g0019 a0017c0011t0001g0125	4	422	0.0095	180	c.356 others(187): Show c.356_357insCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCC CGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTC ACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAA GAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCC	p.Pro others(193): Show p.Pro119_Ser120insProProProGluValThrAspLeuProLysLy sProProProProGluValThrAspLeuProLysLysProProProProG luValThrAspLeuProLysLysProProProProGluValThrAspLeu ProLysLysProProProProGluValThrAspLeuProLysLysPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	405/2195	356/2013	119/670			chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(173): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGA CCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGG GGCTTCTTGGGGAGGTCAGTGAACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp2 HG02280.hp1 HG02280.hp2 others(8): Show HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp1	a0008 a0039 a0008 a0039	a0008c0015 a0008c0027 a0008c0028 others(3): Show a0008c0015 a0008c0027 a0008c0028 a0008c0029 a0008c0075 a0039c0037	a0008c0015t0002 a0008c0027t0002 a0008c0028t0002 others(3): Show a0008c0015t0002 a0008c0027t0002 a0008c0028t0002 a0008c0029t0002 a0008c0075t0002 a0039c0037t0001	a0008c0015t0002g0047 a0008c0015t0002g0258 a0008c0027t0002g0054 others(4): Show a0008c0015t0002g0047 a0008c0015t0002g0258 a0008c0027t0002g0054 a0008c0028t0002g0044 a0008c0029t0002g0043 a0008c0075t0002g0184 a0039c0037t0001g0058	11	422	0.0261	180	c.217 others(187): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGA CCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGC CCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGC	p.Pro others(191): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProProProProGluVal ThrAspLeuProLysLysProProProProGluValThrAspLeuProLy sLysProProProProGluValThrAspLeuProLysLysProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670			chr19	TogoVar
PRDM15_chr21_41793225_41884344	41835896	A A	ACCCACAG others(173): Show ACCCACAGCCCTCGCCCACTCTCCTCCCTCCCCCACAGGGTTTGGCCGCT CTCCTCCCTCCCCCACAGGCCTCGCCCGCTCTCCTCCCTCCCCCACAGGC CTCGCCCGCTCTCCTCCCTCCCCCACAGGCCTCGCCCGCTCTCCTCCCTC CCCCACAGGCCTCGCCCGCTCTCCTCCCTCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	406	0.0025	180	c.127 others(197): Show c.1278+216_1278+217insGGAGGGAGGAGAGCGGGCGAGGCCTGTG GGGGAGGGAGGAGAGCGGGCGAGGCCTGTGGGGGAGGGAGGAGAGCGGGC GAGGCCTGTGGGGGAGGGAGGAGAGCGGGCGAGGCCTGTGGGGGAGGGAG GAGAGCGGCCAAACCCTGTGGGGGAGGGAGGAGAGTGGGCGAGGGCTGTG GG		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	10/23						chr21	TogoVar
PRIM2_chr6_57312630_57651850	57470391	G G	GCCTCTCC others(173): Show GCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTC TCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCC CTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTC CCCTCTCCCCCTCTCCCCTCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02451.hp1 HG02615.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0279 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0279	3	300	0.0100	180	c.694 others(199): Show c.694-36927_694-36926insCTCTCCCCTCTCCCCCTCTCCCCTCT CCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCC TCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCC CCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCT CCCC		PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIM2_chr6_57312630_57651850	57470413	C C	CCCCTCTC others(173): Show CCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCT CTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCC CTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTC CCCCTCTCCCCTCTCCCCCTCTCCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0299 a0001c0002t0001g0299	1	300	0.0033	180	c.694 others(199): Show c.694-36927_694-36926insCTCTCCCCTCTCCCCCTCTCCCCTCT CCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCC TCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCC CCTCTCTCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCT CCCC		PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIMPOL_chr4_184644738_184699952	184676424	C C	CCCTTCCC others(173): Show CCCTTCCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTC TCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCC CTTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCT TCTCCCTTCCCTTCCCCTCCCCTTCCTCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	328	0.0031	180	c.845 others(197): Show c.845-1799_845-1798insCTTCCCTTCTCCCTTCCCTTCTCCCTTC CCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTC TCTCCTTCCCCCCTTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCT TCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCC CC		PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCA_chr17_66297613_66815743	66799583	A A	ATGGTGGT others(173): Show ATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0039 a0001c0001t0042g0039	1	178	0.0056	180	c.185 others(199): Show c.1855-4282_1855-4281insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGT GGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2122933	C C	CTGTAGTT others(173): Show CTGTAGTTAGGGTCACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACAGCGATAGTTAGCATCATGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02486.hp1 HG00140.hp2 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0262 a0001c0003t0001g0263	2	286	0.0070	180	c.335 others(199): Show c.335-12329_335-12328insTGTAGTTAGGGTCACGGCGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCA TGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123190	C C	CGGTGGTA others(173): Show CGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGCGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGATCATGGCTGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG01243.hp1 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0128 a0001c0003t0002g0020 a0001c0003t0001g0128 a0001c0003t0002g0020	2	286	0.0070	180	c.335 others(199): Show c.335-12066_335-12065insAGTTAGGGTCATGGTGGTAGTTAGGG TCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGG TGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123570	C C	CGGTGGTA others(173): Show CGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGC GTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCGGTAGTTAGGATCATGGCTG TAGTTAGGATCATGGCTGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG01243.hp1 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0128 a0001c0003t0002g0020 a0001c0003t0001g0128 a0001c0003t0002g0020	2	286	0.0070	180	c.335 others(199): Show c.335-11675_335-11674insTGGTGGTAGTTAGGGTCATGGTGGTA GTTAGCGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCGGTAGTTAGGATCA TGGCTGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	492460	G G	GGGAGACC others(173): Show GGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCA GAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCG AGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCC CGGGAGACCCGAGGCCGTCCAGAGCCCTCCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0126 a0001c0001t0041g0126	1	295	0.0034	180	c.126 others(199): Show c.1265+3462_1265+3463insAGACCCGAGGCCGCCCAGAGCCCTCC CGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCC GAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTC CCGG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB27A_chr15_55197966_55294813	55209927	T T	TATGTGTG others(173): Show TATGTGTGTATATATACGTATACACACATATGTGTGTATATACGTATATA TACACACATATGTGTGTATATACGTATATATACACACATATGTGTGTATA TACGGATATACACACACGTATATACACACATGTGTGTATATACGTATATA CACACATGTGTGTATATACGTATATACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	320	0.0031	180	c.468 others(197): Show c.468-4223_468-4222insGTGTGTATATACGTATATACACACATGT GTGTATATACGTATATACACACATGTGTGTATATACGTGTGTGTATATCC GTATATACACACATATGTGTGTATATATACGTATATACACACATATGTGT GTATATATACGTATATACACACATATGTGTGTATACGTATATATACACAC AT		RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6						chr15	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(173): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCAC CAGGCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	330	0.0030	180	c.397 others(193): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGC CTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGT GGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(173): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCATCCCCACCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCAC CAGGCCCACCATCCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	330	0.0030	180	c.397 others(193): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGGGC CTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGT GGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(173): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCTCA CCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCATCCCCACCAGG CCCACCATCCCCACCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCAC CAGGCCCACCATCCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0028 a0001c0003t0013g0028	1	330	0.0030	180	c.397 others(193): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGGGC CTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGT GAGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAD51C_chr17_58687602_58740611	58726417	T T	TATATGTA others(173): Show TATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATATG TGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATAGA TGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATATG TATATATGTGTATACGTATAGATGTATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01168.hp1 HG01346.hp2 others(20): Show HG00280.hp2 HG01168.hp1 HG01346.hp2 HG02148.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG03098.hp1 HG03239.hp2 NA18612.hp2 NA18943.hp2 NA18952.hp2 NA18954.hp1 NA18964.hp1 NA18980.hp1 NA18981.hp2 NA18998.hp1 NA19000.hp1 NA19063.hp2 NA19064.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0043 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0002g0004 a0001c0001t0002g0048 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0003g0171	23	330	0.0697	180	c.965 others(197): Show c.965+2444_965+2445insCGTATAGATGTATATACATATGTATATA TGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATA GATGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATA TGTATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTA TA		RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAD51C_chr17_58687602_58740611	58726509	C C	CGTATAGA others(173): Show CGTATAGATGTATATACATATGTATATATGTGTATACGTATAGATGTATA TACATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATA TGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATA GATGTATATACATATGTATATATGTGTATAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	330	0.0030	180	c.965 others(197): Show c.965+2444_965+2445insCGTATAGATGTATATACATATGTATATA TGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATA GATGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATA TGTATATATGTGTATAAGTATAGATGTATATACATATGTATATATGTGTA TA		RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAD51C_chr17_58687602_58740611	58726581	C C	CGTATAGA others(173): Show CGTATAGATGTATATACATATGTATATATGTGTATACGTATAGATGTATA TACATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATA TGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATA GATGTATATACATATGTATATATGTGTATAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	330	0.0030	180	c.965 others(197): Show c.965+2481_965+2482insGTATAGATGTATATACATATGTATATAT GTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATAG ATGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATAT GTATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTAT AA		RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8						chr17	TogoVar
RALGAPA2_chr20_20384530_20717644	20458760	A A	ATATATAT others(173): Show ATATATATATAGACCTATATATATAGACCTATATATATATAGACCTATAT ATATATAGACCTATATATATATAGACCTATATATATAGACCTATATATAT ATAGATCTATATATATAGACCTATATATATATAGACCTATATATATAGAC CTATATATATATAGACCTATATATATAGACC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0035	1	122	0.0082	180	c.549 others(201): Show c.5495+14068_5495+14069insGGTCTATATATATAGGTCTATATA TATATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATA GATCTATATATATATAGGTCTATATATATAGGTCTATATATATATAGGTC TATATATATATAGGTCTATATATATATAGGTCTATATATATAGGTCTATA TATATA		RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39						chr20	TogoVar
RASGEF1B_chr4_81421393_81476907	81466761	A A	AGAAAGAA others(173): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAG AAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGAAAGAAAGGAAGAAAGGA AGAAAGAAAGAAAGAAAGAAAGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	316	0.0032	180	c.-7+ others(195): Show c.-7+5008_-7+5009insCTTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTTTCTTCCTTTCTTTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTT TCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC		RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13						chr4	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(173): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGACGGGGACTGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0019 a0001c0032t0019	a0001c0032t0019g0067 a0001c0032t0019g0067	1	432	0.0023	180	c.-83 others(197): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCATCCCCACCCCGGGCCC CGTCCCCACCCCGGGCCCCGTCCCCACCCCAGTCCCCGTCCCCACCCCGG GCCCCGTCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCATCCCCACC CC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(173): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGACGG GGCCTGGGGTGGGGACGGGGCCTGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	432	0.0023	180	c.-83 others(197): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCC CGTCCCCACCCCGGGCCCCGTCCCCACCCCAGGCCCCGTCCCCACCCCAG GCCCCGTCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCATCCCCACC CC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(173): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGACTGGGGTGGGGATGGGGACTGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02486.hp2 others(14): Show HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03098.hp1 HG03195.hp1 HG03239.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0031 a0002c0002 others(3): Show a0001c0001 a0001c0031 a0002c0002 a0003c0003 a0005c0005 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0031t0003 a0002c0002t0001 a0003c0003t0002 a0005c0005t0001 a0005c0005t0002 a0007c0007t0002	a0001c0001t0001g0037 a0001c0001t0001g0129 a0001c0001t0001g0144 others(13): Show a0001c0001t0001g0037 a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0265 a0001c0001t0003g0218 a0001c0001t0004g0111 a0001c0001t0004g0145 a0001c0001t0004g0147 a0001c0031t0003g0146 a0002c0002t0001g0127 a0002c0002t0001g0128 a0003c0003t0002g0152 a0005c0005t0001g0069 a0005c0005t0001g0126 a0005c0005t0002g0143 a0007c0007t0002g0130	17	432	0.0394	180	c.-83 others(197): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCC CGTCCCCACCCCGGGCCCCGTCCCCACCCCAGTCCCCATCCCCACCCCAG TCCCCGTCCCCACCCCGGGCCCCATCCCCACCCCGGGCCCCATCCCCACC CC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(173): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGACGGGGACCGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01071.hp2 others(1): Show HG00323.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0002	a0001c0001t0001g0024 a0004c0004t0002g0254 a0001c0001t0001g0024 a0004c0004t0002g0254	4	432	0.0093	180	c.-83 others(197): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCC CGTCCCCACCCCGGGCCCCGTCCCCACCCCGGTCCCCGTCCCCACCCCGG GCCCCGTCCCCACCCCGGGCCCCATCCCCACCCCGGGCCCCATCCCCACC CC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(173): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGACGGGGACTGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01074.hp2 others(18): Show HG00639.hp2 HG01070.hp2 HG01074.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02970.hp2 HG03225.hp2 NA20752.hp1 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0015 a0019	a0001c0001 a0003c0003 a0004c0004 others(3): Show a0001c0001 a0003c0003 a0004c0004 a0007c0007 a0015c0023 a0019c0018	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0007c0007t0002 a0015c0023t0004 a0019c0018t0002	a0001c0001t0001g0253 a0001c0001t0002g0252 a0003c0003t0002g0011 others(11): Show a0001c0001t0001g0253 a0001c0001t0002g0252 a0003c0003t0002g0011 a0004c0004t0001g0023 a0004c0004t0001g0148 a0004c0004t0001g0255 a0004c0004t0002g0034 a0004c0004t0002g0053 a0004c0004t0002g0250 a0004c0004t0002g0251 a0007c0007t0002g0262 a0007c0007t0002g0263 a0015c0023t0004g0075 a0019c0018t0002g0249	21	432	0.0486	180	c.-83 others(197): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCC CGTCCCCACCCCGGGCCCCGTCCCCACCCCAGTCCCCGTCCCCACCCCGG GCCCCGTCCCCACCCCGGGCCCCATCCCCACCCCGGGCCCCATCCCCACC CC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(173): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGATGGGGACTGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02559.hp2 others(12): Show HG02145.hp2 HG02257.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02818.hp1 HG02897.hp1 HG02922.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03669.hp2 HG04199.hp1 HG06807.hp2 NA20905.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0008 a0013	a0001c0001 a0001c0011 a0002c0002 others(5): Show a0001c0001 a0001c0011 a0002c0002 a0005c0005 a0007c0007 a0008c0010 a0008c0036 a0013c0014	a0001c0001t0005 a0001c0001t0013 a0001c0011t0003 others(7): Show a0001c0001t0005 a0001c0001t0013 a0001c0011t0003 a0002c0002t0005 a0005c0005t0002 a0005c0005t0003 a0007c0007t0002 a0008c0010t0006 a0008c0036t0005 a0013c0014t0014	a0001c0001t0005g0223 a0001c0001t0013g0116 a0001c0011t0003g0243 others(12): Show a0001c0001t0005g0223 a0001c0001t0013g0116 a0001c0011t0003g0243 a0001c0011t0003g0246 a0002c0002t0005g0113 a0005c0005t0002g0244 a0005c0005t0003g0112 a0007c0007t0002g0114 a0007c0007t0002g0115 a0008c0010t0006g0221 a0008c0010t0006g0222 a0008c0036t0005g0068 a0013c0014t0014g0154 a0013c0014t0014g0155 a0013c0014t0014g0156	15	432	0.0347	180	c.-83 others(197): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCATCCCCACCCCGGGCCC CGTCCCCACCCCGGGCCCCGTCCCCACCCCAGTCCCCATCCCCACCCCGG GCCCCGTCCCCACCCCGGGCCCCATCCCCACCCCGGGCCCCATCCCCACC CC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(173): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGATGGGGACTGGGGTGGGGATGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02723.hp2 others(3): Show HG01891.hp2 HG02615.hp2 HG02723.hp2 HG03041.hp1 HG03139.hp2 HG06807.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0015 a0024	a0001c0001 a0001c0011 a0002c0002 others(3): Show a0001c0001 a0001c0011 a0002c0002 a0005c0005 a0015c0022 a0024c0025	a0001c0001t0010 a0001c0011t0015 a0002c0002t0008 others(3): Show a0001c0001t0010 a0001c0011t0015 a0002c0002t0008 a0005c0005t0016 a0015c0022t0010 a0024c0025t0016	a0001c0001t0010g0182 a0001c0011t0015g0245 a0002c0002t0008g0118 others(3): Show a0001c0001t0010g0182 a0001c0011t0015g0245 a0002c0002t0008g0118 a0005c0005t0016g0258 a0015c0022t0010g0120 a0024c0025t0016g0259	6	432	0.0139	180	c.-83 others(197): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCC CGTCCCCACCCCGGGCCCCATCCCCACCCCAGTCCCCATCCCCACCCCGG GCCCCGTCCCCACCCCGGGCCCCATCCCCACCCCGGGCCCCATCCCCACC CC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(173): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGATGGGGACTGGGGTGGGGATGGGGCCCGGGGTGGGG ATGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01071.hp1 others(1): Show HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01175.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0009 a0010c0012t0009	a0010c0012t0009g0022 a0010c0012t0009g0241 a0010c0012t0009g0022 a0010c0012t0009g0241	4	432	0.0093	180	c.-83 others(197): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCC CATCCCCACCCCGGGCCCCATCCCCACCCCAGTCCCCATCCCCACCCCGG GCCCCGTCCCCACCCCGGGCCCCATCCCCACCCCGGGCCCCATCCCCACC CC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(173): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCTGGGGTGGGGACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGCCACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	432	0.0023	180	c.-83 others(197): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTGGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCC CGTCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCGTCCCCACCCCAG GCCCCGTCCCCACCCCGGGCCCCATCCCCACCCCGGGCCCCATCCCCACC CC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(173): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCTGGGGTGGGGACGGGGCCTGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0257 a0002c0002t0001g0257	1	432	0.0023	180	c.-83 others(197): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCC CGTCCCCACCCCGGGCCCCGTCCCCACCCCAGGCCCCGTCCCCACCCCAG GCCCCGTCCCCACCCCGGGCCCCATCCCCACCCCGGGCCCCATCCCCACC CC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422629	G G	GATGGGGC others(173): Show GATGGGGCCCGGGGTGGGGACGGGGCCCAGGGTGGGGATGGGGACTGGGG TGGGGACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGGGCCC GGGGTGGGGATGGCCACTGGGGTGGGGATGGCCACTGGGGTGGGAATGGG GCCCGGGGTGGGGATGGGGCCCGGAGTGGGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02809.hp1 others(4): Show HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02976.hp2 HG03471.hp1 HG03516.hp2 NA18906.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0011 a0005c0005t0012 a0005c0005t0021 a0001c0001t0011 a0005c0005t0012 a0005c0005t0021	a0001c0001t0011g0090 a0001c0001t0011g0091 a0001c0001t0011g0181 others(4): Show a0001c0001t0011g0090 a0001c0001t0011g0091 a0001c0001t0011g0181 a0005c0005t0012g0088 a0005c0005t0012g0092 a0005c0005t0012g0232 a0005c0005t0021g0089	7	432	0.0162	180	c.-83 others(197): Show c.-83-2900_-83-2899insCCCCACTCCGGGCCCCATCCCCACCCCG GGCCCCATTCCCACCCCAGTGGCCATCCCCACCCCAGTGGCCATCCCCAC CCCGGGCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCGTCC CCACCCCAGTCCCCATCCCCACCCTGGGCCCCGTCCCCACCCCGGGCCCC AT		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422629	G G	GATGGGGC others(173): Show GATGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGGGACTGGGG TGGGGACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGGGCCC GGGGTGGGGATGGCCACTGGGGTGGGGATGGCCACTGGGGTGGGAATGGG GCCCGGGGTGGGGATGGGGCCCGGAGTGGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	432	0.0023	180	c.-83 others(197): Show c.-83-2900_-83-2899insCCCCACTCCGGGCCCCATCCCCACCCCG GGCCCCATTCCCACCCCAGTGGCCATCCCCACCCCAGTGGCCATCCCCAC CCCGGGCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCGTCC CCACCCCAGTCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCC AT		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422629	G G	GATGGGGC others(173): Show GATGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGGGACTGGGG TGGGGATGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGACGGGGCCC GGGGTGGGGATGGCGACTGGGGTGGGGATGGCCACTGGGGTGGGAATGGG GCCCGGGGTGGGGATGGGGCCCGGAGTGGGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp1 HG02818.hp2 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0032 a0002c0002t0008g0119 a0002c0002t0008g0032 a0002c0002t0008g0119	2	432	0.0046	180	c.-83 others(197): Show c.-83-2900_-83-2899insCCCCACTCCGGGCCCCATCCCCACCCCG GGCCCCATTCCCACCCCAGTGGCCATCCCCACCCCAGTCGCCATCCCCAC CCCGGGCCCCGTCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCATCC CCACCCCAGTCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCC AT		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422631	T T	TGGGGCCC others(173): Show TGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGGGACTGGGGTG GGGATGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGACGGGGCCCGG GGTGGGGATGGCGACTGGGGTGGGGATGGCCACTGGGGTGGGAATGGGGC CCGGGGTGGGGATGGGGCCCGGAGTGGGGAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0032 a0002c0002t0008g0032	1	432	0.0023	180	c.-83 others(197): Show c.-83-2902_-83-2901insATCCCCACTCCGGGCCCCATCCCCACCC CGGGCCCCATTCCCACCCCAGTGGCCATCCCCACCCCAGTCGCCATCCCC ACCCCGGGCCCCGTCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCAT CCCCACCCCAGTCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCC CC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
RBCK1_chr20_403299_437139	420669	A A	ACCCCATC others(173): Show ACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCC CCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCC ATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCC CCATCCCCCGTCCCCCGTCCCCCATCTCCTG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	452	0.0022	180	c.757 others(195): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTG		RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11						chr20	TogoVar
RBFOX3_chr17_79084345_79616051	79555355	G G	GCAATGGT others(173): Show GCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTAGT GATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGATGG CAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGATGGCA GTGGTGGTGGTAACGGTGGTGATAATAGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp1 HG02109.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0002g0124 a0001c0001t0001g0067 a0001c0001t0002g0124	2	154	0.0130	180	c.-32 others(201): Show c.-320+55470_-320+55471insTCACTATTATCACCACCGTTACCA CCACCACTGCCATCACCACCATTATCACTATTATCACCACCGTTACCACC ACCACTGCCATCACCACCATCATCGCCATTATCACCATTACCATTGCCAT CACCATCACTACTATCATAATCACCCTCACCGCCATCACTGCCATCATCA CCATTG		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(173): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18975.hp2 HG00408.hp1 NA18975.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0001 a0001c0001t0001 a0007c0009t0001	a0001c0001t0001g0120 a0007c0009t0001g0237 a0001c0001t0001g0120 a0007c0009t0001g0237	2	412	0.0049	180	c.205 others(195): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513804	G G	GAGGGGTC others(173): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0064 a0003c0003t0001g0064	1	412	0.0024	180	c.205 others(195): Show c.2059-93_2059-92insACTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(173): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG TAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0060 a0003c0003t0001g0060	1	412	0.0024	180	c.205 others(192): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTACTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(173): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACATACGTATGTGTATACATACATACGTATGTATG TGTATACATACATACGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	180	c.-23 others(191): Show c.-2310_-2309insGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATGTATACACATACGTATGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGTATACACATACATATGTATGCATACACATACATACATAC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2085		chr3	TogoVar

Search by Variant

Search

Search Results